12-56572292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572292
    reference: chr 12
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1206C>T
  hgvsp: ENST00000550164.1:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1206C>T
  hgvsp: ENST00000267064.4:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*869C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11565C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1206C>T
  hgvsp: ENST00000394023.3:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1206C>T
  hgvsp: ENST00000347471.4:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.550C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.124C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn402Asn
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: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-56572295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572295
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572295
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*866G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1203G>A
  hgvsp: ENST00000550164.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.547G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1203G>A
  hgvsp: ENST00000267064.4:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1203G>A
  hgvsp: ENST00000394023.3:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1203G>A
  hgvsp: ENST00000347471.4:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.121G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11562G>A
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly401Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-56572299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572299
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572299
    reference: chr 12
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.543C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1199C>T
  hgvsp: ENSP00000377591.3:p.Thr400Met
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.117C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11558C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1199C>T
  hgvsp: ENSP00000449396.1:p.Thr400Met
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1199C>T
  hgvsp: ENSP00000302919.4:p.Thr400Met
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1199C>T
  hgvsp: ENSP00000267064.4:p.Thr400Met
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*862C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr400Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-56572302-CTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572302
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572299
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1193_1195delACA
  hgvsp: ENSP00000449396.1:p.Asn398del
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.537_539delACA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1193_1195delACA
  hgvsp: ENSP00000302919.4:p.Asn398del
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.111_113delACA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*856_*858delACA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1193_1195delACA
  hgvsp: ENSP00000377591.3:p.Asn398del
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11552_212+11554delACA
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1193_1195delACA
  hgvsp: ENSP00000267064.4:p.Asn398del
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39270
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn398del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: CTGT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-56572304-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572304
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572304
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*857C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1194C>T
  hgvsp: ENST00000394023.3:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1194C>T
  hgvsp: ENST00000267064.4:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1194C>T
  hgvsp: ENST00000550164.1:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1194C>T
  hgvsp: ENST00000347471.4:c.1194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11553C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.112C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.538C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn398Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-56572306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572306
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572306
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.110A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11551A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.536A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1192A>G
  hgvsp: ENSP00000449396.1:p.Asn398Asp
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1192A>G
  hgvsp: ENSP00000302919.4:p.Asn398Asp
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1192A>G
  hgvsp: ENSP00000267064.4:p.Asn398Asp
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1192A>G
  hgvsp: ENSP00000377591.3:p.Asn398Asp
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*855A>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn398Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-56572307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572307
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572307
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1191G>A
  hgvsp: ENST00000550164.1:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11550G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1191G>A
  hgvsp: ENST00000267064.4:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*854G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1191G>A
  hgvsp: ENST00000394023.3:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.109G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1191G>A
  hgvsp: ENST00000347471.4:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.535G>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu397Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-56572316-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572316
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572316
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1182T>A
  hgvsp: ENSP00000377591.3:p.Asp394Glu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*845T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1182T>A
  hgvsp: ENSP00000302919.4:p.Asp394Glu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1182T>A
  hgvsp: ENSP00000267064.4:p.Asp394Glu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.100T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1182T>A
  hgvsp: ENSP00000449396.1:p.Asp394Glu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11541T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.526T>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp394Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-56572322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572322
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572322
    reference: chr 12
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1180-4G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*843-4G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1180-4G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1180-4G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.94G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.520G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1180-4G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11535G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1180-4G>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-56572323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572323
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572323
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*843-5C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11534C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1180-5C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1180-5C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.519C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.93C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1180-5C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1180-5C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1180-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

12-56572336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572336
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1180-18C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.506C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1180-18C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1180-18C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11521C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.80C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1180-18C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*843-18C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

12-56572337-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572337
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572338
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1180-20dupA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1180-20dupA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1180-20dupA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*843-20dupA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.504dupA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.78dupA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1180-20dupA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11519dupA
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

12-56572340-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572340
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572340
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11517C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1180-22C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.76C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*843-22C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1180-22C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1180-22C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1180-22C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.502C>G
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-56572344-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572344
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572344
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.72G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1180-26G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1180-26G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1180-26G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*843-26G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1180-26G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11513G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.498G>C
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-56572346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572346
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572346
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*843-28G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.496G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1180-28G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1180-28G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11511G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.70G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1180-28G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1180-28G>A
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-56572361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572361
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572361
    reference: chr 12
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.55G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.481G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1180-43G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1180-43G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1180-43G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11496G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*843-43G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1180-43G>A
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-56572370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572370
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572370
    reference: chr 12
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1180-52T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000552566
  gene symbol: SMARCC2
  hgvsc: ENST00000552566.1:n.46T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.472T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*843-52T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1180-52T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11487T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1180-52T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1180-52T>C
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-56572543-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572543
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572543
    reference: chr 12
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.299A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11314A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1179+51A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1179+51A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1179+51A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1179+51A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*842+51A>T
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-56572561-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572561
    reference: chr 12
allele count: 3
allele frequency: 2.483197033407277e-5
allele num: 120812
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11296A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1179+33A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.281A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1179+33A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*842+33A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1179+33A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1179+33A>G
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-56572561-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572562
    reference: chr 12
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.280dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1179+32dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*842+32dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11295dupT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1179+32dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1179+32dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1179+32dupT
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

12-56572569-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572569
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572569
    reference: chr 12
allele count: 2
allele frequency: 1.655409879486161e-5
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*842+25A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1179+25A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.273A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1179+25A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1179+25A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1179+25A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11288A>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

12-56572574-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572574
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572572
    reference: chr 12
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1179+18_1179+19delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11281_212+11282delAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.266_267delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1179+18_1179+19delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1179+18_1179+19delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*842+18_*842+19delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1179+18_1179+19delAG
  variant of: http://identifiers.org/hgnc/11105
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14737
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: CCT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-56572582-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572582
    reference: chr 12
allele count: 2
allele frequency: 1.655026314918407e-5
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1179+12T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1179+12T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*842+12T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1179+12T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.260T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1179+12T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11275T>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

12-56572591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572591
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572591
    reference: chr 12
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1179+3G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*842+3G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1179+3G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1179+3G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1179+3G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.251G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11266G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1179+3G>A
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-56572600-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572600
    reference: chr 12
allele count: 2
allele frequency: 1.654807214959457e-5
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*836G>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1173G>T
  hgvsp: ENST00000550164.1:c.1173G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1173G>T
  hgvsp: ENST00000347471.4:c.1173G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1173G>T
  hgvsp: ENST00000394023.3:c.1173G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1173G>T
  hgvsp: ENST00000267064.4:c.1173G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11257G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.242G>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14734
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr391Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-56572601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572601
    reference: chr 12
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*835C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1172C>T
  hgvsp: ENSP00000267064.4:p.Thr391Met
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11256C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1172C>T
  hgvsp: ENSP00000449396.1:p.Thr391Met
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1172C>T
  hgvsp: ENSP00000377591.3:p.Thr391Met
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1172C>T
  hgvsp: ENSP00000302919.4:p.Thr391Met
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.241C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr391Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-56572601-GTCGTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572596
    reference: chr 12
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.236_240delGACGA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1167_1171delGACGA
  hgvsp: ENSP00000302919.4:p.Glu389AspfsTer5
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1167_1171delGACGA
  hgvsp: ENSP00000449396.1:p.Glu389AspfsTer5
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1167_1171delGACGA
  hgvsp: ENSP00000267064.4:p.Glu389AspfsTer5
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*830_*834delGACGA
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1167_1171delGACGA
  hgvsp: ENSP00000377591.3:p.Glu389AspfsTer5
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu389AspfsTer5
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: GTCGTC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-56572603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572603
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572603
    reference: chr 12
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*833G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1170G>A
  hgvsp: ENST00000550164.1:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1062G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1170G>A
  hgvsp: ENST00000347471.4:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11254G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1170G>A
  hgvsp: ENST00000267064.4:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.239G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1170G>A
  hgvsp: ENST00000394023.3:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr390Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-56572605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572605
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572605
    reference: chr 12
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1168A>G
  hgvsp: ENSP00000449396.1:p.Thr390Ala
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*831A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1168A>G
  hgvsp: ENSP00000267064.4:p.Thr390Ala
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.237A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1168A>G
  hgvsp: ENSP00000302919.4:p.Thr390Ala
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1060A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11252A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1168A>G
  hgvsp: ENSP00000377591.3:p.Thr390Ala
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr390Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-56572609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572609
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572609
    reference: chr 12
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1164G>A
  hgvsp: ENSP00000302919.4:p.Met388Ile
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11248G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*827G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1164G>A
  hgvsp: ENSP00000267064.4:p.Met388Ile
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1056G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1164G>A
  hgvsp: ENSP00000449396.1:p.Met388Ile
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.233G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1164G>A
  hgvsp: ENSP00000377591.3:p.Met388Ile
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14733
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met388Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

12-56572610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572610
    reference: chr 12
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1163T>C
  hgvsp: ENSP00000302919.4:p.Met388Thr
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1055T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1163T>C
  hgvsp: ENSP00000267064.4:p.Met388Thr
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11247T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1163T>C
  hgvsp: ENSP00000449396.1:p.Met388Thr
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.232T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1163T>C
  hgvsp: ENSP00000377591.3:p.Met388Thr
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*826T>C
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met388Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

12-56572611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572611
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572611
    reference: chr 12
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1162A>G
  hgvsp: ENSP00000302919.4:p.Met388Val
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1162A>G
  hgvsp: ENSP00000377591.3:p.Met388Val
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1162A>G
  hgvsp: ENSP00000267064.4:p.Met388Val
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11246A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1162A>G
  hgvsp: ENSP00000449396.1:p.Met388Val
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*825A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1054A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.231A>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14731
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met388Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-56572611-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572611
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572611
    reference: chr 12
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1054A>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1162A>C
  hgvsp: ENSP00000267064.4:p.Met388Leu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1162A>C
  hgvsp: ENSP00000377591.3:p.Met388Leu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1162A>C
  hgvsp: ENSP00000302919.4:p.Met388Leu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1162A>C
  hgvsp: ENSP00000449396.1:p.Met388Leu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*825A>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.231A>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11246A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met388Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-56572615-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572615
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572615
    reference: chr 12
allele count: 77
allele frequency: 6.367214633016902e-4
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11242A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.227A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1158A>G
  hgvsp: ENST00000550164.1:c.1158A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1158A>G
  hgvsp: ENST00000267064.4:c.1158A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*821A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1158A>G
  hgvsp: ENST00000394023.3:c.1158A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1050A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1158A>G
  hgvsp: ENST00000347471.4:c.1158A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 15600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16498
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu386Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-56572620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572620
    reference: chr 12
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.222G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1045G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1153G>A
  hgvsp: ENSP00000449396.1:p.Asp385Asn
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1153G>A
  hgvsp: ENSP00000377591.3:p.Asp385Asn
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1153G>A
  hgvsp: ENSP00000267064.4:p.Asp385Asn
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1153G>A
  hgvsp: ENSP00000302919.4:p.Asp385Asn
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*816G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11237G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp385Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-56572621-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572621
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572621
    reference: chr 12
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1152A>G
  hgvsp: ENST00000267064.4:c.1152A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11236A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*815A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.221A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1152A>G
  hgvsp: ENST00000394023.3:c.1152A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1152A>G
  hgvsp: ENST00000347471.4:c.1152A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1152A>G
  hgvsp: ENST00000550164.1:c.1152A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1044A>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu384Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-56572630-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572630
    reference: chr 12
allele count: 2
allele frequency: 1.653329806229747e-5
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1035T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1143T>A
  hgvsp: ENSP00000267064.4:p.Asp381Glu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1143T>A
  hgvsp: ENSP00000449396.1:p.Asp381Glu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*806T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.212T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11227T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1143T>A
  hgvsp: ENSP00000302919.4:p.Asp381Glu
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1143T>A
  hgvsp: ENSP00000377591.3:p.Asp381Glu
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp381Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-56572640-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572640
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572641
    reference: chr 12
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-10dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-10dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-10dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-10dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11216dupT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-10dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-10dupT
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-10dupT
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

12-56572647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572647
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572647
    reference: chr 12
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-16G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-16G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-16G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-16G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-16G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-16G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-16G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11210G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-56572653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572653
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572653
    reference: chr 12
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-22C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-22C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-22C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11204C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-22C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-22C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-22C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-22C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-56572654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572654
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572654
    reference: chr 12
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11203A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-23A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-23A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-23A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-23A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-23A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-23A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-23A>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-56572656-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572656
    reference: chr 12
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-25T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-25T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-25T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11201T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-25T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-25T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-25T>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-25T>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5499
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

12-56572656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572656
    reference: chr 12
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-25T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-25T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-25T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-25T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-25T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11201T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-25T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-25T>C
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-56572657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572657
    reference: chr 12
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-26C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-26C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11200C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-26C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-26C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-26C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-26C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-26C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

12-56572657-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572657
    reference: chr 12
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-26C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11200C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-26C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-26C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-26C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-26C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-26C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-26C>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15199
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14684
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-56572658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572658
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572658
    reference: chr 12
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11199C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-56572663-AGCCTCCTGAGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572663
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572651
    reference: chr 12
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13189
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: AGCCTCCTGAGGG
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

12-56572664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572664
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572664
    reference: chr 12
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-33C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-33C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11193C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-33C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-33C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-33C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-33C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-33C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13431
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-56572666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572666
    reference: chr 12
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-35G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-35G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-35G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-35G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-35G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-35G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11191G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-35G>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

12-56572670-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572670
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572670
    reference: chr 12
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-39A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-39A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-39A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11187A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-39A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-39A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-39A>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-39A>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13416
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-56572671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572671
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572671
    reference: chr 12
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-40C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-40C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-40C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-40C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-40C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11186C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-40C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-40C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14670
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-56572672-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572672
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572672
    reference: chr 12
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-41T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-41T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-41T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-41T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-41T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11185T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-41T>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-41T>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12864
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-56572676-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572676
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572676
    reference: chr 12
allele count: 1
allele frequency: 8.325978718798394e-6
allele num: 120106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-45C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-45C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-45C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-45C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11181C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-45C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-45C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-45C>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14669
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-56572681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572681
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572681
    reference: chr 12
allele count: 15
allele frequency: 1.248252446574795e-4
allele num: 120168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*805-50T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.211-50T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1034-50T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1142-50T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11176T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1142-50T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1142-50T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1142-50T>C
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14689
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5415
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-56572734-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572734
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572734
    reference: chr 12
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+47G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+47G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+47G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+47G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+47G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+47G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+47G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11123G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17832
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

12-56572736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572736
    reference: chr 12
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+45G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+45G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+45G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+45G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+45G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+45G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11121G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+45G>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-56572740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572740
    reference: chr 12
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+41G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+41G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+41G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+41G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+41G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+41G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11117G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+41G>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

12-56572742-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572742
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572742
    reference: chr 12
allele count: 6
allele frequency: 4.948208748433067e-5
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+39A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+39A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11115A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+39A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+39A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+39A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+39A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+39A>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17821
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5581
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-56572745-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572745
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572745
    reference: chr 12
allele count: 8
allele frequency: 6.597394029358403e-5
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+36C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+36C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+36C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+36C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+36C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11112C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+36C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+36C>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17816
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13976
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

12-56572745-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572745
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572743
    reference: chr 12
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+34_1141+35delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11110_212+11111delAG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+34_*804+35delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+34_1033+35delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+34_1141+35delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+34_210+35delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+34_1141+35delAG
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+34_1141+35delAG
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: GCT
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/12-56572746-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572746
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572746
    reference: chr 12
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+35G>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+35G>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+35G>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+35G>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+35G>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+35G>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+35G>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11111G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

12-56572749-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572749
    reference: chr 12
allele count: 5
allele frequency: 4.122623307663132e-5
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11108A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+32A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+32A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+32A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+32A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+32A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+32A>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+32A>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7750
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

12-56572752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572752
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572752
    reference: chr 12
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+29G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+29G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+29G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+29G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+29G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+29G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11105G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+29G>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5026
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-56572754-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572754
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572754
    reference: chr 12
allele count: 4
allele frequency: 3.297554863069035e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11103C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+27C>G
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+27C>G
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-56572756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572756
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572756
    reference: chr 12
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+25G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+25G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+25G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+25G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11101G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+25G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+25G>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+25G>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10367
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-56572757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572757
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572757
    reference: chr 12
allele count: 75
allele frequency: 6.182507625092738e-4
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+24C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+24C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+24C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+24C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11100C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+24C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+24C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+24C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 14541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

12-56572757-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572757
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572757
    reference: chr 12
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+24C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+24C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+24C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+24C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11100C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+24C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+24C>A
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+24C>A
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

12-56572764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572764
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572764
    reference: chr 12
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+17T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+17T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+17T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+17T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+17T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+17T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+17T>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11093T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-56572768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572768
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572768
    reference: chr 12
allele count: 10
allele frequency: 8.241169586787757e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+13C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+13C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+13C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+13C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+13C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+13C>T
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11089C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+13C>T
  variant of: http://identifiers.org/hgnc/11105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11128
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

12-56572770-T-TGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572770
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572772
    reference: chr 12
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: TGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+10_210+11insTC
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+10_1141+11insTC
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+10_1141+11insTC
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+10_1141+11insTC
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+10_1141+11insTC
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+10_1033+11insTC
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+10_*804+11insTC
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11086_212+11087insTC
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17771
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

12-56572771-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56572771
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 56572771
    reference: chr 12
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000302919
  ensembl transcript: ENST00000347471
  gene symbol: SMARCC2
  hgvsc: ENST00000347471.4:c.1141+10G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000447680
  ensembl transcript: ENST00000552674
  gene symbol: SMARCC2
  hgvsc: ENST00000552674.1:c.*804+10G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000548130
  gene symbol: SMARCC2
  hgvsc: ENST00000548130.1:n.210+10G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000377591
  ensembl transcript: ENST00000394023
  gene symbol: SMARCC2
  hgvsc: ENST00000394023.3:c.1141+10G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000267064
  ensembl transcript: ENST00000267064
  gene symbol: SMARCC2
  hgvsc: ENST00000267064.4:c.1141+10G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl protein: ENSP00000449396
  ensembl transcript: ENST00000550164
  gene symbol: SMARCC2
  hgvsc: ENST00000550164.1:c.1141+10G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139613
  ensembl transcript: ENST00000549757
  gene symbol: SMARCC2
  hgvsc: ENST00000549757.1:n.1033+10G>C
  variant of: http://identifiers.org/hgnc/11105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258199
  ensembl transcript: ENST00000553176
  gene symbol: RP11-977G19.5
  hgvsc: ENST00000553176.1:n.212+11086G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 3549
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5056
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2926
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39275
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1661
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.239e1

VQSLOD
type: SiteQuality
SIO_000300: -3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.73e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.865e0

MQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

DP
type: SiteQuality
SIO_000300: 3.377783e6

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

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

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

GenotypeQuality
all individuals: 1661
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5055
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39275
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 8.75e1
variant carriers: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

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

Other
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 66722
num of homozygotes: 0

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

Other
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
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MQ
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FS
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele num: 66724
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Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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QD
type: SiteQuality
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
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VQSLOD
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SIO_000300: -1.327e0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 8654
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

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

African
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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Other
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QD
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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MQ
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: -1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 5.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

DP
type: SiteQuality
SIO_000300: 2.215347e6

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeQuality
all individuals: 2368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14740
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.734906315058987e-4
allele num: 11528
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.785e0

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.58e-1

DP
type: SiteQuality
SIO_000300: 2.215925e6

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 302
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

QD
type: SiteQuality
SIO_000300: 5.87e0

FS
type: SiteQuality
SIO_000300: 2.398e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 2.216337e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 311
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 14737
bin: 9.75e1
variant carriers: 2

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.297e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

FS
type: SiteQuality
SIO_000300: 5.4e0

DP
type: SiteQuality
SIO_000300: 2.216906e6

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2369
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variant carriers: 0

GenotypeQuality
all individuals: 8146
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.105e1

MQRankSum
type: SiteQuality
SIO_000300: -8.71e-1

FS
type: SiteQuality
SIO_000300: 4.662e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 2.217195e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.242e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.135e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4682
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 9.92e0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 2.479e0

DP
type: SiteQuality
SIO_000300: 2.217549e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.217749e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 1.273e0

QD
type: SiteQuality
SIO_000300: 9.82e0

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
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bin: 2.5e0
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: 4.75e1
variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
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: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.273e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 9.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

DP
type: SiteQuality
SIO_000300: 2.217749e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.292e0

DP
type: SiteQuality
SIO_000300: 2.217681e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5581
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

DP
type: SiteQuality
SIO_000300: 2.217774e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
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GenotypeQuality
all individuals: 3792
bin: 7.25e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele frequency: 3.009238361770636e-5
allele num: 66462
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ClippingRankSum
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SIO_000300: -3.45e-1

InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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DP
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

East Asian
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allele frequency: 1.158211721102618e-4
allele num: 8634
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South Asian
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num of homozygotes: 0

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

DP
type: SiteQuality
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16486
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MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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DP
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SIO_000300: 2.218202e6

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

Latino
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allele count: 2
allele frequency: 1.73460537727667e-4
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 73
allele frequency: 1.098239807431924e-3
allele num: 66470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
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Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.220403e6

FS
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66478
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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Latino
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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allele num: 8636
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South Asian
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European (Non-Finnish)
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African
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allele frequency: 0.0e0
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European (Finnish)
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FS
type: SiteQuality
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele num: 66482
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Latino
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European (Finnish)
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African
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Other
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East Asian
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.506931886678722e-5
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num of homozygotes: 0

Latino
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16472
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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allele frequency: 0.0e0
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African
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East Asian
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MQ
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BaseQRankSum
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DP
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FS
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66362
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East Asian
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South Asian
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16468
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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African
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Latino
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num of homozygotes: 0

East Asian
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Other
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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DP
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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VQSLOD
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66230
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.451e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.817e0

DP
type: SiteQuality
SIO_000300: 2.12832e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeQuality
all individuals: 678
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 586
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variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.428e0

FS
type: SiteQuality
SIO_000300: 1.0942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.151e1

DP
type: SiteQuality
SIO_000300: 2.123741e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 1089
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
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: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66190
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 2.11024e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

FS
type: SiteQuality
SIO_000300: 9.901e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

QD
type: SiteQuality
SIO_000300: 1.332e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

GenotypeQuality
all individuals: 1472
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3543
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512310205069264e-5
allele num: 66124
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.682e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.803e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

QD
type: SiteQuality
SIO_000300: 1.39e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.105486e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 10662
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variant carriers: 0

GenotypeQuality
all individuals: 4586
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 2.10293e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.864e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.042e0

GenotypeQuality
all individuals: 5302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 642
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variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 2.09615e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.739e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 1.2879e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 129
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

African
type: Population
allele count: 12
allele frequency: 1.16211504938989e-3
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.617344268016053e-4
allele num: 11462
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 4.939e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 2.093771e6

QD
type: SiteQuality
SIO_000300: 1.347e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3550
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.497e0

DP
type: SiteQuality
SIO_000300: 2.353029e6

VQSLOD
type: SiteQuality
SIO_000300: -1.67e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

FS
type: SiteQuality
SIO_000300: 2.145e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4012
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.442e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.471e1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

DP
type: SiteQuality
SIO_000300: 2.353516e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 155
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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: 5573
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GenotypeQuality
all individuals: 3523
bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.012e0

DP
type: SiteQuality
SIO_000300: 2.355428e6

QD
type: SiteQuality
SIO_000300: 1.324e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501395432584101e-5
allele num: 66646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 2.356243e6

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.001500375093773e-5
allele num: 66650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

DP
type: SiteQuality
SIO_000300: 2.357321e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 6.81e-1

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

GenotypeQuality
all individuals: 4
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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: 0

GenotypeQuality
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GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 6.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

DP
type: SiteQuality
SIO_000300: 2.357321e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 176
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.986e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.082e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: -1.179e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.194e1

DP
type: SiteQuality
SIO_000300: 2.357889e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5027
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.788376939106274e-4
allele num: 8638
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

FS
type: SiteQuality
SIO_000300: 1.384e0

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.235e1

DP
type: SiteQuality
SIO_000300: 2.35884e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.437e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

QD
type: SiteQuality
SIO_000300: 3.376e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.448e0

VQSLOD
type: SiteQuality
SIO_000300: -2.201e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.359891e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7277
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.627487274409995e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.86e1

VQSLOD
type: SiteQuality
SIO_000300: -8.127e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.256e0

QD
type: SiteQuality
SIO_000300: 1.163e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

DP
type: SiteQuality
SIO_000300: 2.36048e6

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: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7273
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

FS
type: SiteQuality
SIO_000300: 2.326e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

DP
type: SiteQuality
SIO_000300: 2.361137e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 56
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GenotypeQuality
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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: 7272
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GenotypeQuality
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GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 17832
bin: 9.75e1
variant carriers: 75

European (Non-Finnish)
type: Population
allele count: 70
allele frequency: 1.049947502624869e-3
allele num: 66670
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

DP
type: SiteQuality
SIO_000300: 2.362433e6

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5017
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.362433e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.34e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

GenotypeQuality
all individuals: 4001
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14764
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3496
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17770
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7301
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5013
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.486e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 2.362103e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

GenotypeQuality
all individuals: 17776
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.806767929244376e-4
allele num: 10402
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997720866070893e-5
allele num: 66692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.537e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.362562e6

QD
type: SiteQuality
SIO_000300: 1.378e1

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5545
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7302
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.646e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.54e-1

DP
type: SiteQuality
SIO_000300: 2.362564e6

FS
type: SiteQuality
SIO_000300: 2.688e0

QD
type: SiteQuality
SIO_000300: 1.768e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.145e0