3-52867393-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867393
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867392
    reference: chr 3
allele count: 2
allele frequency: 1.659255326209597e-5
allele num: 120536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5023delC
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*52delC
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.195delC
  hgvsp: ENSP00000410910.2:p.Glu66ArgfsTer?
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.210delC
  hgvsp: ENSP00000419877.1:p.Glu71ArgfsTer?
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.190+5delC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1065delC
  hgvsp: ENSP00000422941.1:p.Glu356ArgfsTer?
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.77+5delC
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu66ArgfsTer?
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: CG
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-52867394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867394
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867394
    reference: chr 3
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5023C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1065C>T
  hgvsp: ENST00000504329.1:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.77+5C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*52C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.190+5C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.195C>T
  hgvsp: ENST00000446157.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.210C>T
  hgvsp: ENST00000486659.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: c.190+5C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-52867395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867395
    reference: chr 3
allele count: 2
allele frequency: 1.659337924168257e-5
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1064C>T
  hgvsp: ENSP00000422941.1:p.Thr355Ile
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.194C>T
  hgvsp: ENSP00000410910.2:p.Thr65Ile
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.209C>T
  hgvsp: ENSP00000419877.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.190+4C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5022C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.77+4C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr65Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

3-52867400-T-TGTGCGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867400
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867406
    reference: chr 3
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: TGTGCGG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*40_*45dupCCGCAC
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.70_75dupCCGCAC
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1053_1058dupCCGCAC
  hgvsp: ENSP00000422941.1:p.Arg352_Thr353dup
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.183_188dupCCGCAC
  hgvsp: ENSP00000410910.2:p.Arg62_Thr63dup
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5011_5016dupCCGCAC
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.183_188dupCCGCAC
  hgvsp: ENSP00000422253.1:p.Arg62_Thr63dup
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.198_203dupCCGCAC
  hgvsp: ENSP00000419877.1:p.Arg67_Thr68dup
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg62_Thr63dup
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

3-52867401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867401
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867401
    reference: chr 3
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5016C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1058C>T
  hgvsp: ENSP00000422941.1:p.Thr353Ile
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.188C>T
  hgvsp: ENSP00000410910.2:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.75C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.203C>T
  hgvsp: ENSP00000419877.1:p.Thr68Ile
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.188C>T
  hgvsp: ENSP00000422253.1:p.Thr63Ile
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr63Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

3-52867404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867404
    reference: chr 3
allele count: 33
allele frequency: 2.739225712198685e-4
allele num: 120472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.200G>A
  hgvsp: ENSP00000419877.1:p.Arg67His
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.72G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1055G>A
  hgvsp: ENSP00000422941.1:p.Arg352His
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.185G>A
  hgvsp: ENSP00000410910.2:p.Arg62His
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5013G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.185G>A
  hgvsp: ENSP00000422253.1:p.Arg62His
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18262
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31060
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg62His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS

3-52867404-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867403
    reference: chr 3
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.184delC
  hgvsp: ENSP00000410910.2:p.Arg62AlafsTer?
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*41delC
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.71delC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1054delC
  hgvsp: ENSP00000422941.1:p.Arg352AlafsTer?
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.199delC
  hgvsp: ENSP00000419877.1:p.Arg67AlafsTer?
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.184delC
  hgvsp: ENSP00000422253.1:p.Arg62AlafsTer81
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5012delC
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg352AlafsTer?
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: CG
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

3-52867405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867405
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867405
    reference: chr 3
allele count: 9
allele frequency: 7.472104144527099e-5
allele num: 120448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.199C>T
  hgvsp: ENSP00000419877.1:p.Arg67Cys
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.71C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.184C>T
  hgvsp: ENSP00000410910.2:p.Arg62Cys
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1054C>T
  hgvsp: ENSP00000422941.1:p.Arg352Cys
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.184C>T
  hgvsp: ENSP00000422253.1:p.Arg62Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5012C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*41C>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg62Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-52867409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867409
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867409
    reference: chr 3
allele count: 72
allele frequency: 5.977881837202351e-4
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.67C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1050C>T
  hgvsp: ENST00000504329.1:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.195C>T
  hgvsp: ENST00000486659.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.180C>T
  hgvsp: ENST00000446157.2:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.180C>T
  hgvsp: ENST00000468472.1:c.180C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5008C>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18213
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30946
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg60Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

3-52867410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867410
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867410
    reference: chr 3
allele count: 3
allele frequency: 2.491694352159469e-5
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.194G>A
  hgvsp: ENSP00000419877.1:p.Arg65His
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.179G>A
  hgvsp: ENSP00000422253.1:p.Arg60His
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5007G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.66G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.179G>A
  hgvsp: ENSP00000410910.2:p.Arg60His
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*36G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1049G>A
  hgvsp: ENSP00000422941.1:p.Arg350His
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Arg60His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

3-52867410-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867410
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867409
    reference: chr 3
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*35delC
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5006delC
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.178delC
  hgvsp: ENSP00000422253.1:p.Arg60AlafsTer83
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1048delC
  hgvsp: ENSP00000422941.1:p.Arg350AlafsTer?
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.65delC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.193delC
  hgvsp: ENSP00000419877.1:p.Arg65AlafsTer?
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.178delC
  hgvsp: ENSP00000410910.2:p.Arg60AlafsTer?
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg350AlafsTer?
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: CG
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

3-52867411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867411
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867411
    reference: chr 3
allele count: 26
allele frequency: 2.159073923369484e-4
allele num: 120422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1048C>T
  hgvsp: ENSP00000422941.1:p.Arg350Cys
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.65C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5006C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.178C>T
  hgvsp: ENSP00000410910.2:p.Arg60Cys
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.193C>T
  hgvsp: ENSP00000419877.1:p.Arg65Cys
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.178C>T
  hgvsp: ENSP00000422253.1:p.Arg60Cys
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18243
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg60Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-52867411-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867411
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867411
    reference: chr 3
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.178C>G
  hgvsp: ENSP00000422253.1:p.Arg60Gly
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.193C>G
  hgvsp: ENSP00000419877.1:p.Arg65Gly
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*35C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.65C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.178C>G
  hgvsp: ENSP00000410910.2:p.Arg60Gly
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1048C>G
  hgvsp: ENSP00000422941.1:p.Arg350Gly
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.5006C>G
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg60Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-52867420-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867420
    reference: chr 3
allele count: 1
allele frequency: 8.326256015719971e-6
allele num: 120102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.56G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*26G>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.169G>T
  hgvsp: ENSP00000410910.2:p.Val57Leu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.169G>T
  hgvsp: ENSP00000422253.1:p.Val57Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.184G>T
  hgvsp: ENSP00000419877.1:p.Val62Leu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1039G>T
  hgvsp: ENSP00000422941.1:p.Val347Leu
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4997G>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val57Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-52867420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867420
    reference: chr 3
allele count: 1
allele frequency: 8.326256015719971e-6
allele num: 120102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.184G>A
  hgvsp: ENSP00000419877.1:p.Val62Met
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.56G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4997G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.169G>A
  hgvsp: ENSP00000410910.2:p.Val57Met
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1039G>A
  hgvsp: ENSP00000422941.1:p.Val347Met
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.169G>A
  hgvsp: ENSP00000422253.1:p.Val57Met
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val57Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/3-52867421-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867421
    reference: chr 3
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.183G>T
  hgvsp: ENST00000486659.1:c.183G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4996G>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*25G>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.55G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1038G>T
  hgvsp: ENST00000504329.1:c.1038G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.168G>T
  hgvsp: ENST00000446157.2:c.168G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.168G>T
  hgvsp: ENST00000468472.1:c.168G>T(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser56Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

3-52867421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867421
    reference: chr 3
allele count: 3
allele frequency: 2.499000399840064e-5
allele num: 120048
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.168G>A
  hgvsp: ENST00000446157.2:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.183G>A
  hgvsp: ENST00000486659.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4996G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.168G>A
  hgvsp: ENST00000468472.1:c.168G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1038G>A
  hgvsp: ENST00000504329.1:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.55G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser56Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-52867423-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867423
    reference: chr 3
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*23T>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4994T>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.166T>C
  hgvsp: ENSP00000410910.2:p.Ser56Pro
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.166T>C
  hgvsp: ENSP00000422253.1:p.Ser56Pro
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1036T>C
  hgvsp: ENSP00000422941.1:p.Ser346Pro
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.53T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.181T>C
  hgvsp: ENSP00000419877.1:p.Ser61Pro
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser56Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52867424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867424
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867424
    reference: chr 3
allele count: 9
allele frequency: 7.511643046722419e-5
allele num: 119814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.52G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1035G>A
  hgvsp: ENST00000504329.1:c.1035G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.165G>A
  hgvsp: ENST00000468472.1:c.165G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4993G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.165G>A
  hgvsp: ENST00000446157.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.180G>A
  hgvsp: ENST00000486659.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro55Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

3-52867425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867425
    reference: chr 3
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1034C>T
  hgvsp: ENSP00000422941.1:p.Pro345Leu
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.164C>T
  hgvsp: ENSP00000422253.1:p.Pro55Leu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.164C>T
  hgvsp: ENSP00000410910.2:p.Pro55Leu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.179C>T
  hgvsp: ENSP00000419877.1:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4992C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.51C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro55Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-52867426-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867426
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867426
    reference: chr 3
allele count: 2
allele frequency: 1.668307168715904e-5
allele num: 119882
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.163C>A
  hgvsp: ENSP00000422253.1:p.Pro55Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.50C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1033C>A
  hgvsp: ENSP00000422941.1:p.Pro345Thr
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.163C>A
  hgvsp: ENSP00000410910.2:p.Pro55Thr
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.178C>A
  hgvsp: ENSP00000419877.1:p.Pro60Thr
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4991C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*20C>A
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40472
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro55Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

3-52867427-G-GGCGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867432
    reference: chr 3
allele count: 1
allele frequency: 8.34125752798492e-6
allele num: 119886
alternate allele: GGCGGC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.172_176dupGCCGC
  hgvsp: ENSP00000419877.1:p.Ser61ProfsTer?
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1027_1031dupGCCGC
  hgvsp: ENSP00000422941.1:p.Ser346ProfsTer?
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.44_48dupGCCGC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*14_*18dupGCCGC
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.157_161dupGCCGC
  hgvsp: ENSP00000410910.2:p.Ser56ProfsTer?
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.157_161dupGCCGC
  hgvsp: ENSP00000422253.1:p.Ser56ProfsTer89
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4985_4989dupGCCGC
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser56ProfsTer89
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-52867429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867429
    reference: chr 3
allele count: 1
allele frequency: 8.350312301680083e-6
allele num: 119756
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.160G>A
  hgvsp: ENSP00000410910.2:p.Ala54Thr
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.160G>A
  hgvsp: ENSP00000422253.1:p.Ala54Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.175G>A
  hgvsp: ENSP00000419877.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1030G>A
  hgvsp: ENSP00000422941.1:p.Ala344Thr
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.47G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4988G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala344Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

3-52867429-CGGCCGAGCCAGCTTGCTCTGTGGGAGGAGGTAAAGTCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867390
    reference: chr 3
allele count: 3
allele frequency: 2.505093690504025e-5
allele num: 119756
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: CGGCCGAGCCAGCTTGCTCTGTGGGAGGAGGTAAAGTCAG
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

3-52867433-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867433
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867433
    reference: chr 3
allele count: 2
allele frequency: 1.671961210499916e-5
allele num: 119620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.171G>C
  hgvsp: ENST00000486659.1:c.171G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1026G>C
  hgvsp: ENST00000504329.1:c.1026G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.156G>C
  hgvsp: ENST00000468472.1:c.156G>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*13G>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.156G>C
  hgvsp: ENST00000446157.2:c.156G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4984G>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.43G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser52Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

3-52867433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867433
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867433
    reference: chr 3
allele count: 3
allele frequency: 2.507941815749874e-5
allele num: 119620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.43G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.156G>A
  hgvsp: ENST00000468472.1:c.156G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.156G>A
  hgvsp: ENST00000446157.2:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4984G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.171G>A
  hgvsp: ENST00000486659.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1026G>A
  hgvsp: ENST00000504329.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40510
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser52Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-52867434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867434
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867434
    reference: chr 3
allele count: 38
allele frequency: 3.178214178180723e-4
allele num: 119564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.170C>T
  hgvsp: ENSP00000419877.1:p.Ser57Leu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.155C>T
  hgvsp: ENSP00000410910.2:p.Ser52Leu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4983C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.155C>T
  hgvsp: ENSP00000422253.1:p.Ser52Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*12C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1025C>T
  hgvsp: ENSP00000422941.1:p.Ser342Leu
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.42C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 40263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser52Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-52867444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867444
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867444
    reference: chr 3
allele count: 2
allele frequency: 1.677345768056627e-5
allele num: 119236
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1015C>T
  hgvsp: ENSP00000422941.1:p.Gln339Ter
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.145C>T
  hgvsp: ENSP00000410910.2:p.Gln49Ter
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.160C>T
  hgvsp: ENSP00000419877.1:p.Gln54Ter
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4973C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.145C>T
  hgvsp: ENSP00000422253.1:p.Gln49Ter
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.32C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln49Ter
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-52867449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867449
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867449
    reference: chr 3
allele count: 1
allele frequency: 8.402655239055541e-6
allele num: 119010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-3C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-3C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-3C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-3C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-3C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-3C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-3C>T
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
hgvs: c.143-3C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-52867457-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867457
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867457
    reference: chr 3
allele count: 10
allele frequency: 8.43042371309582e-5
allele num: 118618
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-11T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-11T>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-11T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-11T>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-11T>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-11T>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-11T>G
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

3-52867460-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867460
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867460
    reference: chr 3
allele count: 1
allele frequency: 8.433694295449179e-6
allele num: 118572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-14A>C
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-14A>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-14A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-14A>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-14A>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-14A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-14A>C
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

3-52867470-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867470
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867470
    reference: chr 3
allele count: 2
allele frequency: 1.694599311992679e-5
allele num: 118022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-24C>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-24C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-24C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-24C>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-24C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-24C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-24C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

3-52867491-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867491
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867491
    reference: chr 3
allele count: 1
allele frequency: 8.601114704465699e-6
allele num: 116264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-45C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-45C>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-45C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-45C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-45C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-45C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-45C>G
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

3-52867492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867492
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867492
    reference: chr 3
allele count: 1
allele frequency: 8.610594475442584e-6
allele num: 116136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-46C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-46C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-46C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-46C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-46C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-46C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-46C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11775
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-52867493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867493
    reference: chr 3
allele count: 1
allele frequency: 8.608667206143144e-6
allele num: 116162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-47C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-47C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-47C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-47C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-47C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-47C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-47C>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5311
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

3-52867493-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867493
    reference: chr 3
allele count: 1
allele frequency: 8.608667206143144e-6
allele num: 116162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-47C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-47C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-47C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-47C>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-47C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-47C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-47C>A
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21028
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17726
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-52867495-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867495
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867495
    reference: chr 3
allele count: 1
allele frequency: 8.619055006809053e-6
allele num: 116022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-49T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-49T>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-49T>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-49T>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-49T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-49T>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-49T>G
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11689
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-52867496-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867496
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867496
    reference: chr 3
allele count: 12
allele frequency: 1.045861005072426e-4
allele num: 114738
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.143-50C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1013-50C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4971-50C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.158-50C>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.*-50C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.143-50C>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.30-50C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11670
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18919
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

3-52867587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867587
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867587
    reference: chr 3
allele count: 1
allele frequency: 9.966711184643292e-6
allele num: 100334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+46G>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+46G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+46G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+46G>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+46G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+46G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+46G>A
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13348
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-52867589-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867589
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867589
    reference: chr 3
allele count: 4
allele frequency: 3.977803854491935e-5
allele num: 100558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+44G>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+44G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+44G>C
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+44G>C
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+44G>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+44G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+44G>C
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17082
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5536
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-52867589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867589
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867589
    reference: chr 3
allele count: 16
allele frequency: 1.591121541796774e-4
allele num: 100558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+44G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+44G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+44G>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+44G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+44G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+44G>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+44G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17082
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-52867592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867592
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867592
    reference: chr 3
allele count: 3
allele frequency: 2.990251779199809e-5
allele num: 100326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+41C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+41C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+41C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+41C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+41C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+41C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+41C>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16969
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6874
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-52867595-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867595
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867595
    reference: chr 3
allele count: 59706
allele frequency: 5.800641212474498e-1
allele num: 102930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+38G>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+38G>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+38G>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+38G>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+38G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+38G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+38G>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 14695
  bin: 1.25e1
  variant carriers: 11420
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 2.25e1
  variant carriers: 7732
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 7.5e0
  variant carriers: 4088
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 1044
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 1.75e1
  variant carriers: 12130
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 2.75e1
  variant carriers: 4086
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 642
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.25e1
  variant carriers: 2041
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 2103
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 1.25e1
  variant carriers: 336
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 1003
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 1.75e1
  variant carriers: 637
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.25e1
  variant carriers: 918
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 3.25e1
  variant carriers: 1844
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 6.25e1
  variant carriers: 1495
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 3.75e1
  variant carriers: 2122
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 1227
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 2.25e1
  variant carriers: 1100
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.5e0
  variant carriers: 209
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.25e1
  variant carriers: 812
num of homozygotes: 17296
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/3-52867596-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867596
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867596
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 99464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+37G>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+37G>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+37G>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+37G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+37G>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+37G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+37G>T
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5381
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

3-52867603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867603
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867603
    reference: chr 3
allele count: 29
allele frequency: 2.921678857119829e-4
allele num: 99258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+30G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+30G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+30G>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+30G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+30G>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+30G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+30G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12094
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14140
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-52867613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867613
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867613
    reference: chr 3
allele count: 1
allele frequency: 1.006461482719056e-5
allele num: 99358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+20C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+20C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+20C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+20C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+20C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+20C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+20C>T
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13476
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-52867615-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867615
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867615
    reference: chr 3
allele count: 8
allele frequency: 8.041655776924469e-5
allele num: 99482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+18A>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+18A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+18A>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+18A>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+18A>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+18A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+18A>G
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13349
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

3-52867617-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867617
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867617
    reference: chr 3
allele count: 1
allele frequency: 1.00773943889068e-5
allele num: 99232
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+16C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+16C>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+16C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+16C>G
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+16C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+16C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+16C>G
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14413
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-52867619-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867619
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867619
    reference: chr 3
allele count: 1
allele frequency: 1.005166556098345e-5
allele num: 99486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+14T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+14T>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+14T>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+14T>C
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+14T>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+14T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+14T>C
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5408
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

3-52867621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867621
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867621
    reference: chr 3
allele count: 2
allele frequency: 2.014058125717508e-5
allele num: 99302
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+12C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+12C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+12C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+12C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+12C>T
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+12C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+12C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

3-52867626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867626
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867626
    reference: chr 3
allele count: 5
allele frequency: 5.047751731378844e-5
allele num: 99054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.29+7G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.157+7G>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.142+7G>A
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4970+7G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1012+7G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.445+7G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.142+7G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
hgvs: c.142+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

3-52867639-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867639
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867639
    reference: chr 3
allele count: 1
allele frequency: 1.019742209169522e-5
allele num: 98064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4964G>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1006G>C
  hgvsp: ENSP00000422941.1:p.Glu336Gln
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.136G>C
  hgvsp: ENSP00000422253.1:p.Glu46Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.151G>C
  hgvsp: ENSP00000419877.1:p.Glu51Gln
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.439G>C
  hgvsp: ENSP00000422189.1:p.Arg147Thr
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.23G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.136G>C
  hgvsp: ENSP00000410910.2:p.Glu46Gln
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16272
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu46Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-52867642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867642
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867642
    reference: chr 3
allele count: 2
allele frequency: 2.052755824694652e-5
allele num: 97430
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.133C>T
  hgvsp: ENSP00000422253.1:p.Arg45Ter
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4961C>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.133C>T
  hgvsp: ENSP00000410910.2:p.Arg45Ter
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.436C>T
  hgvsp: ENSP00000422189.1:p.Ala146Val
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1003C>T
  hgvsp: ENSP00000422941.1:p.Arg335Ter
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.20C>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.148C>T
  hgvsp: ENSP00000419877.1:p.Arg50Ter
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg45Ter
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

3-52867643-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867643
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867643
    reference: chr 3
allele count: 1
allele frequency: 1.022223130865005e-5
allele num: 97826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.147G>C
  hgvsp: ENSP00000419877.1:p.Met49Ile
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1002G>C
  hgvsp: ENSP00000422941.1:p.Met334Ile
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.132G>C
  hgvsp: ENSP00000410910.2:p.Met44Ile
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.132G>C
  hgvsp: ENSP00000422253.1:p.Met44Ile
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.19G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4960G>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.435G>C
  hgvsp: ENSP00000422189.1:p.Ala146Pro
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met44Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-52867645-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867645
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867645
    reference: chr 3
allele count: 1
allele frequency: 1.024317292524532e-5
allele num: 97626
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.1000A>G
  hgvsp: ENSP00000422941.1:p.Met334Val
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4958A>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.433A>G
  hgvsp: ENSP00000422189.1:p.His145Arg
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.130A>G
  hgvsp: ENSP00000422253.1:p.Met44Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.145A>G
  hgvsp: ENSP00000419877.1:p.Met49Val
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.130A>G
  hgvsp: ENSP00000410910.2:p.Met44Val
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.17A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met44Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-52867650-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867650
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867650
    reference: chr 3
allele count: 1
allele frequency: 1.034811043503456e-5
allele num: 96636
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.125A>T
  hgvsp: ENSP00000410910.2:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.12A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.125A>T
  hgvsp: ENSP00000422253.1:p.Gln42Leu
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.428A>T
  hgvsp: ENST00000514466.1:c.428A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.140A>T
  hgvsp: ENSP00000419877.1:p.Gln47Leu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.995A>T
  hgvsp: ENSP00000422941.1:p.Gln332Leu
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4953A>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5443
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln42Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-52867651-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867651
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867651
    reference: chr 3
allele count: 1
allele frequency: 1.037215284404431e-5
allele num: 96412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4952C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.427C>A
  hgvsp: ENSP00000422189.1:p.Pro143Gln
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.994C>A
  hgvsp: ENSP00000422941.1:p.Gln332Lys
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.124C>A
  hgvsp: ENSP00000410910.2:p.Gln42Lys
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.139C>A
  hgvsp: ENSP00000419877.1:p.Gln47Lys
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.124C>A
  hgvsp: ENSP00000422253.1:p.Gln42Lys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.11C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln42Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-52867657-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867657
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867657
    reference: chr 3
allele count: 2
allele frequency: 2.077533552166868e-5
allele num: 96268
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.988A>T
  hgvsp: ENSP00000422941.1:p.Thr330Ser
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4946A>T
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.421A>T
  hgvsp: ENSP00000422189.1:p.Asp141Val
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.133A>T
  hgvsp: ENSP00000419877.1:p.Thr45Ser
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.118A>T
  hgvsp: ENSP00000422253.1:p.Thr40Ser
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.118A>T
  hgvsp: ENSP00000410910.2:p.Thr40Ser
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.5A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15214
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr40Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

3-52867660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867660
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867660
    reference: chr 3
allele count: 3
allele frequency: 3.129694541812719e-5
allele num: 95856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4943A>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.115A>G
  hgvsp: ENSP00000422253.1:p.Lys39Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.130A>G
  hgvsp: ENSP00000419877.1:p.Lys44Glu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.418A>G
  hgvsp: ENSP00000422189.1:p.Gln140Arg
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.115A>G
  hgvsp: ENSP00000410910.2:p.Lys39Glu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.985A>G
  hgvsp: ENSP00000422941.1:p.Lys329Glu
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243696
  ensembl transcript: ENST00000513520
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000513520.1:n.2A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5447
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys39Glu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

3-52867666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867666
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867666
    reference: chr 3
allele count: 1
allele frequency: 1.05112680793811e-5
allele num: 95136
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.109A>G
  hgvsp: ENSP00000410910.2:p.Lys37Glu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.412A>G
  hgvsp: ENSP00000422189.1:p.Gln138Arg
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.109A>G
  hgvsp: ENSP00000422253.1:p.Lys37Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.124A>G
  hgvsp: ENSP00000419877.1:p.Lys42Glu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.979A>G
  hgvsp: ENSP00000422941.1:p.Lys327Glu
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4937A>G
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys37Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

3-52867673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867673
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867673
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 94106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4930G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.102G>A
  hgvsp: ENST00000446157.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.405G>A
  hgvsp: ENSP00000422189.1:p.Gly136Arg
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.117G>A
  hgvsp: ENST00000486659.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.102G>A
  hgvsp: ENST00000468472.1:c.102G>A(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.972G>A
  hgvsp: ENST00000504329.1:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21022
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13212
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly136Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-52867688-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867688
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867688
    reference: chr 3
allele count: 1
allele frequency: 1.108426256401162e-5
allele num: 90218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.957C>A
  hgvsp: ENSP00000422941.1:p.Asn319Lys
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.87C>A
  hgvsp: ENSP00000422253.1:p.Asn29Lys
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.390C>A
  hgvsp: ENSP00000422189.1:p.Pro131Thr
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.102C>A
  hgvsp: ENSP00000419877.1:p.Asn34Lys
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4915C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.87C>A
  hgvsp: ENSP00000410910.2:p.Asn29Lys
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5447
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20797
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn29Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-52867690-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867690
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867690
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 90226
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.955A>C
  hgvsp: ENSP00000422941.1:p.Asn319His
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.100A>C
  hgvsp: ENSP00000419877.1:p.Asn34His
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.388A>C
  hgvsp: ENSP00000422189.1:p.Lys130Thr
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.85A>C
  hgvsp: ENSP00000410910.2:p.Asn29His
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.85A>C
  hgvsp: ENSP00000422253.1:p.Asn29His
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4913A>C
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13054
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5446
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn29His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-52867695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867695
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867695
    reference: chr 3
allele count: 1
allele frequency: 1.136441120985522e-5
allele num: 87994
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.80G>A
  hgvsp: ENSP00000410910.2:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.80G>A
  hgvsp: ENSP00000422253.1:p.Arg27Gln
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4908G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.383G>A
  hgvsp: ENST00000514466.1:c.383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.950G>A
  hgvsp: ENSP00000422941.1:p.Arg317Gln
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.95G>A
  hgvsp: ENSP00000419877.1:p.Arg32Gln
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5446
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg27Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-52867696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867696
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867696
    reference: chr 3
allele count: 2
allele frequency: 2.285453091075306e-5
allele num: 87510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.382C>T
  hgvsp: ENSP00000422189.1:p.Pro128Leu
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.94C>T
  hgvsp: ENSP00000419877.1:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.79C>T
  hgvsp: ENSP00000410910.2:p.Arg27Ter
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.79C>T
  hgvsp: ENSP00000422253.1:p.Arg27Ter
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.949C>T
  hgvsp: ENSP00000422941.1:p.Arg317Ter
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4907C>T
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13853
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19796
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5447
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5559
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg27Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

3-52867698-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867698
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867698
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 86774
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.77C>A
  hgvsp: ENSP00000422253.1:p.Ala26Asp
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.77C>A
  hgvsp: ENSP00000410910.2:p.Ala26Asp
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4905C>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.92C>A
  hgvsp: ENSP00000419877.1:p.Ala31Asp
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.947C>A
  hgvsp: ENSP00000422941.1:p.Ala316Asp
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.380C>A
  hgvsp: ENST00000514466.1:c.380C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5445
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala26Asp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-52867708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867708
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867708
    reference: chr 3
allele count: 2
allele frequency: 2.362781466342178e-5
allele num: 84646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.370C>G
  hgvsp: ENSP00000422189.1:p.Pro124Arg
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4895C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.937C>G
  hgvsp: ENSP00000422941.1:p.Leu313Val
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.67C>G
  hgvsp: ENSP00000422253.1:p.Leu23Val
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.67C>G
  hgvsp: ENSP00000410910.2:p.Leu23Val
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.82C>G
  hgvsp: ENSP00000419877.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18793
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu23Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-52867709-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867709
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867709
    reference: chr 3
allele count: 1
allele frequency: 1.198925762516785e-5
allele num: 83408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.936C>G
  hgvsp: ENSP00000422941.1:p.Asp312Glu
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.66C>G
  hgvsp: ENSP00000422253.1:p.Asp22Glu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.66C>G
  hgvsp: ENSP00000410910.2:p.Asp22Glu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4894C>G
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.369C>G
  hgvsp: ENSP00000422189.1:p.Pro124Ala
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.81C>G
  hgvsp: ENSP00000419877.1:p.Asp27Glu
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18577
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp22Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-52867712-CTCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867712
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867709
    reference: chr 3
allele count: 1
allele frequency: 1.202587969309955e-5
allele num: 83154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.363_365delCGA
  hgvsp: ENSP00000422189.1:p.Arg122del
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.75_77delCGA
  hgvsp: ENSP00000419877.1:p.Asp25del
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4888_4890delCGA
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.60_62delCGA
  hgvsp: ENSP00000422253.1:p.Asp20del
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.930_932delCGA
  hgvsp: ENSP00000422941.1:p.Asp310del
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.60_62delCGA
  hgvsp: ENSP00000410910.2:p.Asp20del
  variant of: http://identifiers.org/hgnc/22144
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp20del
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: CTCG
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

3-52867715-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867715
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867715
    reference: chr 3
allele count: 89736
allele frequency: 9.874337023261955e-1
allele num: 90878
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.60C>G
  hgvsp: ENSP00000410910.2:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.75C>G
  hgvsp: ENSP00000419877.1:p.Asp25Glu
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.930C>G
  hgvsp: ENSP00000422941.1:p.Asp310Glu
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.363C>G
  hgvsp: ENSP00000422189.1:p.Arg122Gly
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.60C>G
  hgvsp: ENSP00000422253.1:p.Asp20Glu
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4888C>G
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 566
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 2.5e0
  variant carriers: 1444
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.75e1
  variant carriers: 1235
genotype depth: GenotypeDepth
  all individuals: 13019
  bin: 7.5e0
  variant carriers: 12911
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 465
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 541
genotype depth: GenotypeDepth
  all individuals: 18917
  bin: 1.25e1
  variant carriers: 18873
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 393
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 464
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.25e1
  variant carriers: 698
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 1.75e1
  variant carriers: 10304
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.25e1
  variant carriers: 349
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 9.75e1
  variant carriers: 5996
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 2.25e1
  variant carriers: 3507
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 382
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 446
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 292
genotype quality: GenotypeQuality
  all individuals: 7494
  bin: 3.75e1
  variant carriers: 7490
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 7781
  bin: 3.25e1
  variant carriers: 7781
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 4.25e1
  variant carriers: 3222
genotype quality: GenotypeQuality
  all individuals: 11891
  bin: 9.75e1
  variant carriers: 11875
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 1.25e1
  variant carriers: 921
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 423
genotype quality: GenotypeQuality
  all individuals: 5876
  bin: 2.25e1
  variant carriers: 5821
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 359
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 6.25e1
  variant carriers: 1867
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.5e0
  variant carriers: 536
hgvs: p.Asp20Glu
num of homozygotes: 44364
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

3-52867718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867718
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867718
    reference: chr 3
allele count: 2741
allele frequency: 4.753069293195533e-2
allele num: 57668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4885G>A
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.57G>A
  hgvsp: ENST00000446157.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.927G>A
  hgvsp: ENST00000504329.1:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.57G>A
  hgvsp: ENST00000468472.1:c.57G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.72G>A
  hgvsp: ENST00000486659.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.360G>A
  hgvsp: ENSP00000422189.1:p.Gly121Arg
  variant of: http://identifiers.org/hgnc/38834
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 25299
  bin: 7.5e0
  variant carriers: 604
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 2.5e0
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 13476
  bin: 1.25e1
  variant carriers: 649
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 1.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 538
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 3.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 9.75e1
  variant carriers: 2334
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5596
  bin: 7.5e0
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 1.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 5485
  bin: 6.25e1
  variant carriers: 19
hgvs: p.Gly121Arg
num of homozygotes: 347
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

3-52867719-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52867719
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 52867719
    reference: chr 3
allele count: 2
allele frequency: 3.558338967370032e-5
allele num: 56206
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422941
  ensembl transcript: ENST00000504329
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000504329.1:c.926A>C
  hgvsp: ENSP00000422941.1:p.Lys309Thr
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000419877
  ensembl transcript: ENST00000486659
  gene symbol: MUSTN1
  hgvsc: ENST00000486659.1:c.71A>C
  hgvsp: ENSP00000419877.1:p.Lys24Thr
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272573
  ensembl protein: ENSP00000410910
  ensembl transcript: ENST00000446157
  gene symbol: MUSTN1
  hgvsc: ENST00000446157.2:c.56A>C
  hgvsp: ENSP00000410910.2:p.Lys19Thr
  variant of: http://identifiers.org/hgnc/22144
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248592
  ensembl transcript: ENST00000495552
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000495552.1:n.4884A>C
  variant of: http://identifiers.org/hgnc/38834
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000243696
  ensembl protein: ENSP00000422253
  ensembl transcript: ENST00000468472
  gene symbol: RP5-966M1.6
  hgvsc: ENST00000468472.1:c.56A>C
  hgvsp: ENSP00000422253.1:p.Lys19Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000248592
  ensembl protein: ENSP00000422189
  ensembl transcript: ENST00000514466
  gene symbol: TMEM110-MUSTN1
  hgvsc: ENST00000514466.1:c.359A>C
  hgvsp: ENSP00000422189.1:p.Glu120Asp
  variant of: http://identifiers.org/hgnc/38834
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys19Thr
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003724618526973e-5
allele num: 66584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 1.6085e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 220
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 3.6e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

VQSLOD
type: SiteQuality
SIO_000300: -9.282e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.211e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.603577e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

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

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7617
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.043735949315349e-4
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.892e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

FS
type: SiteQuality
SIO_000300: 3.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 7.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.603139e6

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 5.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.529e0

FS
type: SiteQuality
SIO_000300: 1.023e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.662e0

MQ
type: SiteQuality
SIO_000300: 5.547e1

DP
type: SiteQuality
SIO_000300: 1.602307e6

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

GenotypeQuality
all individuals: 2266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7590
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.601583e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

QD
type: SiteQuality
SIO_000300: 1.102e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.773e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 2181
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 2.965235173824131e-3
allele num: 9780
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821936110773715e-4
allele num: 16466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

DP
type: SiteQuality
SIO_000300: 1.602933e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 5.24e-1

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

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 7.25e1
variant carriers: 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: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.602933e6

GenotypeQuality
all individuals: 388
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.056411143796505e-4
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
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: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 1.601058e6

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.076e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 9.75e1
variant carriers: 72

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

African
type: Population
allele count: 63
allele frequency: 6.446991404011461e-3
allele num: 9772
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
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: 7
allele frequency: 6.056411143796505e-4
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

DP
type: SiteQuality
SIO_000300: 1.601932e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.098e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.082e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

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

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41976
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.023331968890708e-4
allele num: 9772
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.0961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

DP
type: SiteQuality
SIO_000300: 1.599099e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.25e0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 484
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 8.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

DP
type: SiteQuality
SIO_000300: 1.599099e6

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 1.0961e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

GenotypeQuality
all individuals: 7558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 9.75e1
variant carriers: 26

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

Latino
type: Population
allele count: 5
allele frequency: 4.326007959854646e-4
allele num: 11558
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 12
allele frequency: 7.297494526879105e-4
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.352691856795022e-4
allele num: 66534
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

FS
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 1.599302e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

GenotypeQuality
all individuals: 1282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42079
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 1.599302e6

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

GenotypeQuality
all individuals: 274
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7393
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 1.353e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.336e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.588084e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7393
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.336e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

FS
type: SiteQuality
SIO_000300: 1.353e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.224e1

DP
type: SiteQuality
SIO_000300: 1.588084e6

GenotypeQuality
all individuals: 301
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.586783e6

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 2.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2864
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 301
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.052545155993432e-4
allele num: 9744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 2.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 1.586783e6

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026272577996716e-4
allele num: 9744
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.76e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 2.258e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.584932e6

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

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

GenotypeQuality
all individuals: 523
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7184
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 344
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.207073450419458e-4
allele num: 66276
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 1.582627e6

GenotypeQuality
all individuals: 364
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40654
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.305e0

FS
type: SiteQuality
SIO_000300: 7.742e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 1.581585e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.028e0

GenotypeQuality
all individuals: 2172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015135982632817e-5
allele num: 66332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

QD
type: SiteQuality
SIO_000300: 1.112e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.57973e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 4.445e0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.772e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.575e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

DP
type: SiteQuality
SIO_000300: 1.57948e6

MQRankSum
type: SiteQuality
SIO_000300: -4.212e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 1.0e1

MQ
type: SiteQuality
SIO_000300: 5.156e1

GenotypeQuality
all individuals: 517
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
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: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50879628232596e-5
allele num: 66278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.415e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e0

MQRankSum
type: SiteQuality
SIO_000300: -3.421e0

QD
type: SiteQuality
SIO_000300: 8.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.577498e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40492
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.526388846977881e-5
allele num: 66278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 1.577498e6

VQSLOD
type: SiteQuality
SIO_000300: -9.415e-1

MQ
type: SiteQuality
SIO_000300: 5.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.421e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321262766945218e-4
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.156e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

FS
type: SiteQuality
SIO_000300: 9.079000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.571669e6

GenotypeQuality
all individuals: 1236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.222000995520159e-5
allele num: 16072
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02880658436214e-4
allele num: 9720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509479531457553e-5
allele num: 66248
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 9.079000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 1.571669e6

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.156e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 283
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 590
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.028383381324558e-4
allele num: 9724
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.234413965087281e-5
allele num: 16040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.067398597133272e-3
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.077564334903951e-4
allele num: 66216
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

DP
type: SiteQuality
SIO_000300: 1.569362e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.805e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
all individuals: 2014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2852
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66102
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.554402e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.096e0

FS
type: SiteQuality
SIO_000300: 4.275e0

QD
type: SiteQuality
SIO_000300: 1.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.09e-1

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38648
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 483
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15748
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.542345e6

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.234e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 1953
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6508
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 294
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.518141794443601e-4
allele num: 65870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 2.531e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

DP
type: SiteQuality
SIO_000300: 1.519534e6

QD
type: SiteQuality
SIO_000300: 1.271e1

GenotypeQuality
all individuals: 3078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6438
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15568
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

FS
type: SiteQuality
SIO_000300: 1.715e0

QD
type: SiteQuality
SIO_000300: 1.462e1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 1.519112e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

GenotypeQuality
all individuals: 31225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6001
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1875
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 666
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variant carriers: 0

GenotypeQuality
all individuals: 695
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variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523647001462701e-5
allele num: 65632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

FS
type: SiteQuality
SIO_000300: 1.811e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.832e0

DP
type: SiteQuality
SIO_000300: 1.469661e6

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 1134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2852
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1724
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14732
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541402059313151e-5
allele num: 64876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.52e0

VQSLOD
type: SiteQuality
SIO_000300: -7.649e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.622e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.397105e6

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 7.899e0

GenotypeQuality
all individuals: 2852
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2708
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5007
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2991
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64870
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.047120418848168e-4
allele num: 9550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.612e0

DP
type: SiteQuality
SIO_000300: 1.396789e6

FS
type: SiteQuality
SIO_000300: 5.071e0

QD
type: SiteQuality
SIO_000300: 1.441e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.058e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1557
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1750
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5665
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.866820358219543e-5
allele num: 11278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14716
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.396661e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 4993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5665
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2854
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.79532481652623e-5
allele num: 14716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

DP
type: SiteQuality
SIO_000300: 1.396661e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5366
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4828
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.830601092896175e-5
allele num: 14640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.653e0

QD
type: SiteQuality
SIO_000300: 3.57e0

MQ
type: SiteQuality
SIO_000300: 5.716e1

FS
type: SiteQuality
SIO_000300: 2.158e0

DP
type: SiteQuality
SIO_000300: 1.398408e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

GenotypeQuality
all individuals: 3268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
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variant carriers: 0

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
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variant carriers: 0

GenotypeQuality
all individuals: 6036
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5320
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9414
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64180
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.077392709642665e-3
allele num: 11138
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.262e1

DP
type: SiteQuality
SIO_000300: 1.411401e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.543e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 2.329e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7004
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 7.5e0
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GenotypeQuality
all individuals: 3311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5518
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.88465887674331e-4
allele num: 5306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56456
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.469977e6

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.249e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 356
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6978
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.067637288854337e-5
allele num: 56596
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 1.474009e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.246e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.369e0

GenotypeQuality
all individuals: 8972
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6978
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5536
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 6736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 364
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.473673051099018e-4
allele num: 56596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.318501170960187e-5
allele num: 13664
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.078515962036238e-4
allele num: 9272
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.369e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

DP
type: SiteQuality
SIO_000300: 1.474009e6

GenotypeQuality
all individuals: 4352
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5525
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 430
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7336
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.772044230223986e-5
allele num: 56432
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.75709953129308e-4
allele num: 7254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.25e0

FS
type: SiteQuality
SIO_000300: 5.348e0

VQSLOD
type: SiteQuality
SIO_000300: -9.810000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.482284e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

GenotypeQuality
all individuals: 848
bin: 7.25e1
variant carriers: 694

GenotypeQuality
all individuals: 2184
bin: 5.25e1
variant carriers: 1940

GenotypeQuality
all individuals: 1639
bin: 2.75e1
variant carriers: 807

GenotypeQuality
all individuals: 632
bin: 7.5e0
variant carriers: 315

GenotypeQuality
all individuals: 27990
bin: 9.75e1
variant carriers: 26974

GenotypeQuality
all individuals: 1618
bin: 4.25e1
variant carriers: 1157

GenotypeQuality
all individuals: 2798
bin: 4.75e1
variant carriers: 2198

GenotypeQuality
all individuals: 739
bin: 8.75e1
variant carriers: 688

GenotypeQuality
all individuals: 1133
bin: 7.75e1
variant carriers: 1002

African
type: Population
allele count: 2674
allele frequency: 3.434369380940149e-1
allele num: 7786
num of homozygotes: 434

Latino
type: Population
allele count: 3892
allele frequency: 4.196678887211559e-1
allele num: 9274
num of homozygotes: 745

European (Non-Finnish)
type: Population
allele count: 35632
allele frequency: 6.155759795452975e-1
allele num: 57884
num of homozygotes: 10721

East Asian
type: Population
allele count: 4793
allele frequency: 6.39237129901307e-1
allele num: 7498
num of homozygotes: 1488

South Asian
type: Population
allele count: 8652
allele frequency: 6.069023569023569e-1
allele num: 14256
num of homozygotes: 2626

Other
type: Population
allele count: 461
allele frequency: 6.163101604278075e-1
allele num: 748
num of homozygotes: 137

European (Finnish)
type: Population
allele count: 3602
allele frequency: 6.568198395331875e-1
allele num: 5484
num of homozygotes: 1145

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.591793e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.286e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.265e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.11e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

GenotypeQuality
all individuals: 2345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4883
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 901
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.084e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.463e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

DP
type: SiteQuality
SIO_000300: 1.531105e6

VQSLOD
type: SiteQuality
SIO_000300: -3.414e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.46e0

GenotypeQuality
all individuals: 4089
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 878
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4636
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5408
bin: 9.75e1
variant carriers: 28

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13322
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.080146899978397e-4
allele num: 9258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 4.647006255585344e-4
allele num: 55950
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.634351949420442e-4
allele num: 7592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 2.647e0

DP
type: SiteQuality
SIO_000300: 1.540008e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 14199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16810
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.509762691498949e-5
allele num: 13316
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.210000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

QD
type: SiteQuality
SIO_000300: 1.69e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.56219e6

GenotypeQuality
all individuals: 2499
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5402
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1731
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.101321585903084e-3
allele num: 7264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 1.819e0

DP
type: SiteQuality
SIO_000300: 1.567009e6

QD
type: SiteQuality
SIO_000300: 1.131e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 1514
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4077
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 890
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.51653638003608e-5
allele num: 13304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 2.344e1

VQSLOD
type: SiteQuality
SIO_000300: -1.826e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.572351e6

GenotypeQuality
all individuals: 729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14573
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.785267968722105e-5
allele num: 56014
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -6.706e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.579257e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

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: 2

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: 615
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.577817531305903e-5
allele num: 55900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13332
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.58763e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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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: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.170000717000071e-5
allele num: 55788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.535795026375282e-5
allele num: 13270
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

DP
type: SiteQuality
SIO_000300: 1.58772e6

QD
type: SiteQuality
SIO_000300: 1.159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

FS
type: SiteQuality
SIO_000300: 1.304e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5435
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.808972503617945e-5
allele num: 55280
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13166
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.5838e6

FS
type: SiteQuality
SIO_000300: 1.331e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

GenotypeQuality
all individuals: 18700
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2409
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variant carriers: 0

GenotypeQuality
all individuals: 426
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13084
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.673082063619353e-4
allele num: 7482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.889e1

MQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.582033e6

VQSLOD
type: SiteQuality
SIO_000300: -3.193e0

GenotypeQuality
all individuals: 684
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3468
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variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.812316502954076e-5
allele num: 55178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13136
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.028e-1

FS
type: SiteQuality
SIO_000300: 2.077e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

DP
type: SiteQuality
SIO_000300: 1.581909e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 6.8e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 55074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13090
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7110
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.899e0

QD
type: SiteQuality
SIO_000300: 1.175e1

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

DP
type: SiteQuality
SIO_000300: 1.577341e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7022
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South Asian
type: Population
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allele frequency: 7.712478790683326e-5
allele num: 12966
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.055e0

QD
type: SiteQuality
SIO_000300: 1.923e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.557863e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.05e-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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7446
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5056
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South Asian
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allele count: 1
allele frequency: 7.722007722007723e-5
allele num: 12950
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54408
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.74e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.558333e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7436
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.678769819372402e-5
allele num: 54366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.548943e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.203e-1

FS
type: SiteQuality
SIO_000300: 1.073e0

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4027
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.540575481106637e-5
allele num: 54146
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.941e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

FS
type: SiteQuality
SIO_000300: 8.471e0

DP
type: SiteQuality
SIO_000300: 1.536127e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 974
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5445
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2089
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.799095304944626e-5
allele num: 12822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.518721e6

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.501e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.826e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4668
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5444
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6764
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.489322e6

MQ
type: SiteQuality
SIO_000300: 5.682e1

VQSLOD
type: SiteQuality
SIO_000300: -2.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 7.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 5562
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.962631496310253e-5
allele num: 50952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.409446e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.065e1

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

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

GenotypeQuality
all individuals: 20984
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7062
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.406523e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: -3.194e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 3.063e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

GenotypeQuality
all individuals: 6548
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5569
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20585
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.013774215634943e-5
allele num: 49658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.235e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

QD
type: SiteQuality
SIO_000300: 3.135e1

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.048e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 1.39342e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6558
bin: 3.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6854
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.585983966899405e-4
allele num: 7734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.965e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 4.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.389933e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

GenotypeQuality
all individuals: 1382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
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
all individuals: 1011
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
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variant carriers: 0

GenotypeQuality
all individuals: 4669
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.764e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.382222e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 5.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5571
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5451
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
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variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.75709953129308e-4
allele num: 7254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 1.371381e6

FS
type: SiteQuality
SIO_000300: 3.467e0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.638e1

GenotypeQuality
all individuals: 3108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5450
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16623
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4064
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.121880835172297e-5
allele num: 47128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11724
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.369975e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.791e0

FS
type: SiteQuality
SIO_000300: 2.881e0

QD
type: SiteQuality
SIO_000300: 4.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5450
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3053
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6711
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.127025992257625e-5
allele num: 47014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.370839e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

FS
type: SiteQuality
SIO_000300: 5.167e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 3.236e1

GenotypeQuality
all individuals: 1379
bin: 5.75e1
variant carriers: 1379

GenotypeQuality
all individuals: 464
bin: 8.25e1
variant carriers: 464

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 604

GenotypeQuality
all individuals: 3360
bin: 1.75e1
variant carriers: 3354

GenotypeQuality
all individuals: 1167
bin: 6.75e1
variant carriers: 1166

GenotypeQuality
all individuals: 3544
bin: 2.75e1
variant carriers: 3539

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 194

GenotypeQuality
all individuals: 5188
bin: 4.75e1
variant carriers: 5188

GenotypeQuality
all individuals: 3565
bin: 5.25e1
variant carriers: 3565

Latino
type: Population
allele count: 7955
allele frequency: 9.94375e-1
allele num: 8000
num of homozygotes: 3955

South Asian
type: Population
allele count: 12502
allele frequency: 9.998400511836213e-1
allele num: 12504
num of homozygotes: 6250

European (Finnish)
type: Population
allele count: 5022
allele frequency: 1.0e0
allele num: 5022
num of homozygotes: 2511

European (Non-Finnish)
type: Population
allele count: 51393
allele frequency: 9.997471112321519e-1
allele num: 51406
num of homozygotes: 25690

African
type: Population
allele count: 5970
allele frequency: 8.472892421231905e-1
allele num: 7046
num of homozygotes: 2514

Other
type: Population
allele count: 658
allele frequency: 9.909638554216867e-1
allele num: 664
num of homozygotes: 326

East Asian
type: Population
allele count: 6236
allele frequency: 1.0e0
allele num: 6236
num of homozygotes: 3118

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.672e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.877072e6

VQSLOD
type: SiteQuality
SIO_000300: 5.32e0

QD
type: SiteQuality
SIO_000300: 2.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
all individuals: 28653
bin: 2.25e1
variant carriers: 99

GenotypeQuality
all individuals: 2824
bin: 1.75e1
variant carriers: 114

GenotypeQuality
all individuals: 453
bin: 4.75e1
variant carriers: 24

GenotypeQuality
all individuals: 339
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 70

GenotypeQuality
all individuals: 375
bin: 9.25e1
variant carriers: 84

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 25

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 32

GenotypeQuality
all individuals: 2203
bin: 2.75e1
variant carriers: 34

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3234
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.044153720359771e-4
allele num: 4892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 6.43915003219575e-4
allele num: 31060
num of homozygotes: 0

South Asian
type: Population
allele count: 2631
allele frequency: 2.452918142830505e-1
allele num: 10726
num of homozygotes: 345

Other
type: Population
allele count: 8
allele frequency: 1.769911504424779e-2
allele num: 452
num of homozygotes: 1

Latino
type: Population
allele count: 14
allele frequency: 3.789929615592853e-3
allele num: 3694
num of homozygotes: 0

East Asian
type: Population
allele count: 67
allele frequency: 1.85595567867036e-2
allele num: 3610
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

DP
type: SiteQuality
SIO_000300: 1.00925e6

VQSLOD
type: SiteQuality
SIO_000300: 8.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.644e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.843e-1

FS
type: SiteQuality
SIO_000300: 5.46e-1