12-49499785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49499785
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49499785
    reference: chr 12
allele count: 1
allele frequency: 8.349893956346754e-6
allele num: 119762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.270-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.158-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*133-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.158-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.173-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000549730
  gene symbol: LMBR1L
  hgvsc: ENST00000549730.1:n.79C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+959C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*135-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.158-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.143-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.296-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1117C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.158-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*169-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+959C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*26-45C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-45C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-49500281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500281
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500281
    reference: chr 12
allele count: 1
allele frequency: 4.577077993409007e-5
allele num: 21848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+463C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+156C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+463C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+463C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.142+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+463C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+463C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*168+13C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+463C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-541C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1613C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.890C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+463C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*134+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+463C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+463C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+463C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-49500304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500304
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500304
    reference: chr 12
allele count: 1
allele frequency: 4.548348949331393e-5
allele num: 21986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+440G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.867G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1636G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.142+24G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+440G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+440G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+440G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+440G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+440G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+133G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+440G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*158G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+440G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-564G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*134+24G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+440G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+440G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-49500316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500316
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500316
    reference: chr 12
allele count: 2
allele frequency: 9.040773890245005e-5
allele num: 22122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1648C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+428C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+428C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+428C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+428C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.142+12C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+121C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+428C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+428C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.855C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+428C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+428C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*134+12C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-576C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+428C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+428C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-49500317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500317
    reference: chr 12
allele count: 29
allele frequency: 1.310793708190201e-3
allele num: 22124
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+427C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+427C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.142+11C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*145C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-577C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+427C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+427C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1649C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.854C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*134+11C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+427C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+427C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+427C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+427C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+120C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+427C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+427C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

12-49500339-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500339
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500339
    reference: chr 12
allele count: 2
allele frequency: 8.988764044943821e-5
allele num: 22250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1671C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.131C>G
  hgvsp: ENSP00000378573.4:p.Thr44Ser
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+405C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*123C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+405C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+405C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+405C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*123C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.832C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+405C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+405C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-599C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+405C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+405C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+98C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+405C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+405C>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr44Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-49500351-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500351
    reference: chr 12
allele count: 1
allele frequency: 4.487927475092002e-5
allele num: 22282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+393C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+393C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1683C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+393C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+393C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*111C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*111C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+393C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+86C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+393C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-611C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.119C>A
  hgvsp: ENSP00000378573.4:p.Thr40Asn
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.820C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+393C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+393C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+393C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+393C>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr40Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-49500352-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500352
    reference: chr 12
allele count: 10
allele frequency: 4.486719310839914e-4
allele num: 22288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*110A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-612A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.819A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*110A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.118A>G
  hgvsp: ENSP00000378573.4:p.Thr40Ala
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+85A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+392A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1684A>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr40Ala
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-49500398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500398
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500398
    reference: chr 12
allele count: 8572
allele frequency: 3.861609153977836e-1
allele num: 22198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.773C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+346C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+346C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.72C>T
  hgvsp: ENST00000395141.4:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+346C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1730C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+346C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+346C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+346C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-658C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+39C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.848C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*64C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*64C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+346C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+346C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+346C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+346C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 9.75e1
  variant carriers: 4727
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 2.25e1
  variant carriers: 164
genotype quality: GenotypeQuality
hgvs: p.Gly24Gly
num of homozygotes: 1844
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-49500399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500399
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500399
    reference: chr 12
allele count: 154
allele frequency: 6.996183899691077e-3
allele num: 22012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+345G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1731G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+345G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.772G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+345G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+345G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+345G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+345G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-659G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.71G>A
  hgvsp: ENSP00000378573.4:p.Gly24Asp
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*63G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.847G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+345G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*63G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+38G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+345G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+345G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+345G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly24Asp
num of homozygotes: 2
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

12-49500407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500407
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500407
    reference: chr 12
allele count: 15
allele frequency: 6.846188954815153e-4
allele num: 21910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+337G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+337G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+337G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1739G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+337G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.63G>A
  hgvsp: ENST00000395141.4:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+30G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+337G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*55G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.839G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+337G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-667G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*55G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+337G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+337G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.764G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+337G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+337G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr21Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-49500417-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500417
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500417
    reference: chr 12
allele count: 16
allele frequency: 7.348213465601176e-4
allele num: 21774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1749A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*45A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+327A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.829A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*45A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.53A>C
  hgvsp: ENSP00000378573.4:p.Asn18Thr
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+327A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-677A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+327A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.754A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+327A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+327A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+327A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+327A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+327A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*25+20A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+327A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+327A>C
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn18Thr
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-49500442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500442
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500442
    reference: chr 12
allele count: 1
allele frequency: 4.668534080298786e-5
allele num: 21420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-702C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.804C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.729C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.28C>T
  hgvsp: ENSP00000378573.4:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1774C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+302C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro10Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-49500462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500462
    reference: chr 12
allele count: 1
allele frequency: 4.723665564478035e-5
allele num: 21170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.119A>G
  hgvsp: ENST00000551169.1:c.119A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.8A>G
  hgvsp: ENSP00000378573.4:p.Asn3Ser
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.784A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1794A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.225A>G
  hgvsp: ENST00000417750.1:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+282A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-722A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.225A>G
  hgvsp: ENST00000550815.1:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+282A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+282A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+282A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+282A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+282A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.709A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+282A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+282A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+282A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+282A>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn3Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-49500466-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500466
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500466
    reference: chr 12
allele count: 65
allele frequency: 3.080276751018861e-3
allele num: 21102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.221G>T
  hgvsp: ENSP00000394677.1:p.Gly74Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+278G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.780G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+278G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000378573
  ensembl transcript: ENST00000395141
  gene symbol: LMBR1L
  hgvsc: ENST00000395141.4:c.4G>T
  hgvsp: ENSP00000378573.4:p.Val2Phe
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1798G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.221G>T
  hgvsp: ENSP00000448973.1:p.Gly74Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.115G>T
  hgvsp: ENSP00000448128.1:p.Gly39Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+278G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+278G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-726G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+278G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+278G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.705G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+278G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+278G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+278G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+278G>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly74Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

12-49500480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500480
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500480
    reference: chr 12
allele count: 1
allele frequency: 4.77326968973747e-5
allele num: 20950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+264G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+264G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.516G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.207G>A
  hgvsp: ENSP00000394677.1:p.Trp69Ter
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+264G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+264G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+264G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.101G>A
  hgvsp: ENSP00000448128.1:p.Trp34Ter
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+264G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-740G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.691G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.766G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.207G>A
  hgvsp: ENSP00000448973.1:p.Trp69Ter
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+264G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+264G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+264G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1812G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+264G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp34Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-49500502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500502
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500502
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 20814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-762T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.494T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.185T>C
  hgvsp: ENSP00000394677.1:p.Met62Thr
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+242T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+242T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+242T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.669T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+242T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.185T>C
  hgvsp: ENSP00000448973.1:p.Met62Thr
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+242T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.79T>C
  hgvsp: ENSP00000448128.1:p.Met27Thr
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+242T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+242T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.744T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+242T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+242T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1834T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+242T>C
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14799
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met27Thr
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

12-49500509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500509
    reference: chr 12
allele count: 9074
allele frequency: 4.306597057427622e-1
allele num: 21070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+235G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+235G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+235G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.178G>A
  hgvsp: ENSP00000394677.1:p.Val60Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.72G>A
  hgvsp: ENSP00000448128.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+235G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.487G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.662G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1841G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+235G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+235G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+235G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.178G>A
  hgvsp: ENSP00000448973.1:p.Val60Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.737G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+235G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-769G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+235G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+235G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.5e0
  variant carriers: 1128
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 235
genotype quality: GenotypeQuality
hgvs: p.Val25Ile
num of homozygotes: 2107
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

12-49500510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500510
    reference: chr 12
allele count: 1
allele frequency: 4.780571756382063e-5
allele num: 20918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.71C>T
  hgvsp: ENST00000551169.1:c.71C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+234C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+234C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+234C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+234C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.177C>T
  hgvsp: ENST00000417750.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1842C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.486C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.736C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+234C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.177C>T
  hgvsp: ENST00000550815.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-770C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+234C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+234C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.661C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+234C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+234C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+234C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16436
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly24Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-49500514-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500514
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500514
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 20884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+230T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.173T>G
  hgvsp: ENSP00000394677.1:p.Met58Arg
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+230T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.657T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.732T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.482T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+230T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1846T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+230T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+230T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.67T>G
  hgvsp: ENSP00000448128.1:p.Met23Arg
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+230T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+230T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-774T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+230T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.173T>G
  hgvsp: ENSP00000448973.1:p.Met58Arg
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+230T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+230T>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met23Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

12-49500523-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500523
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500524
    reference: chr 12
allele count: 1
allele frequency: 4.794323520951194e-5
allele num: 20858
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.57dupT
  hgvsp: ENSP00000448128.1:p.Ser20PhefsTer23
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1856dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.163dupT
  hgvsp: ENSP00000394677.1:p.Ser55PhefsTer23
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+220dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+220dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.722dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-784dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+220dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+220dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.647dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.472dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.163dupT
  hgvsp: ENSP00000448973.1:p.Ser55PhefsTer23
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+220dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+220dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+220dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+220dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+220dupT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+220dupT
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser20PhefsTer23
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-49500536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500536
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500536
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 20942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+208T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-7T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+208T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-7T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-7T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+208T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.710T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+208T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-7T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+208T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+208T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-796T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-7T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1868T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+208T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+208T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+208T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+208T>C
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.467-7T>C
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-49500549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500549
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500549
    reference: chr 12
allele count: 1
allele frequency: 4.751045229950589e-5
allele num: 21048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+195A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+195A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+195A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.697A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+195A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-809A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+195A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+195A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-20A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1881A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+195A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-20A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-20A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-20A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-20A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+195A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+195A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+195A>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-49500551-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500551
    reference: chr 12
allele count: 32
allele frequency: 1.514577811435062e-3
allele num: 21128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+193A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-22A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-811A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-22A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+193A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.695A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-22A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-22A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+193A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+193A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1883A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-22A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+193A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+193A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+193A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+193A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+193A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+193A>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/12-49500553-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500553
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500553
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 21170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-24T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-24T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.693T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1885T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-24T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-24T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-813T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+191T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-24T>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-49500554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500554
    reference: chr 12
allele count: 1
allele frequency: 4.712091226086137e-5
allele num: 21222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-25G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-25G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+190G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+190G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1886G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+190G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+190G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.692G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+190G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+190G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+190G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-814G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-25G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+190G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-25G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-25G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+190G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+190G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-49500565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500565
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 21954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+179C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-36C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1897C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+179C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.681C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+179C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+179C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+179C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+179C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+179C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-825C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+179C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+179C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-36C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-36C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-36C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-36C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+179C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

12-49500565-GAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500563
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 21954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-38_158-37delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+177_*132+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+177_295+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-38_467-37delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+177_157+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+177_269+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+177_157+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-38_158-37delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+177_157+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.679_680delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-827_389-826delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-38_642-37delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1899_73-1898delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+177_157+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+177_157+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+177_157+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+177_172+178delGT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-38_52-37delGT
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: GAC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-49500576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500576
    reference: chr 12
allele count: 1
allele frequency: 4.351610095735422e-5
allele num: 22980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.670G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-836G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1908G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-47G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-47G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+168G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-47G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-47G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-47G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

12-49500578-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500578
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500578
    reference: chr 12
allele count: 1
allele frequency: 4.280455440458865e-5
allele num: 23362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+166T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+166T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.668T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+166T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-49T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-49T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1910T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+166T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-838T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+166T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-49T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+166T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+166T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-49T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-49T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+166T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+166T>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+166T>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-49500578-AGCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500578
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500575
    reference: chr 12
allele count: 1
allele frequency: 4.280455440458865e-5
allele num: 23362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-1913_73-1911delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.52-52_52-50delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.467-52_467-50delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+163_172+165delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+163_295+165delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.642-52_642-50delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+163_157+165delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.158-52_158-50delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+163_157+165delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+163_269+165delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.665_667delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+163_157+165delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+163_*132+165delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+163_157+165delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.158-52_158-50delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-841_389-839delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+163_157+165delGGC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+163_157+165delGGC
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: AGCC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-49500697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500697
    reference: chr 12
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.549C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.157+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-957C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.641+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.466+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.51+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.157+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2029C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+47C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+47C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-49500697-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500697
    reference: chr 12
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.549C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.51+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.641+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2029C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.157+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-957C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.466+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+47C>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.157+47C>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS

12-49500701-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500701
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500701
    reference: chr 12
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.157+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.545T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.51+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-961T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.157+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.466+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.641+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2033T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+43T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+43T>C
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-49500702-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500702
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500702
    reference: chr 12
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.641+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2034A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.544A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.51+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.157+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-962A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.466+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.157+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+42A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+42A>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

12-49500720-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500720
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500720
    reference: chr 12
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.466+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-980G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2052G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.157+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.641+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.157+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.526G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+24G>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.51+24G>C
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-49500721-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500721
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500721
    reference: chr 12
allele count: 25
allele frequency: 2.075205445339089e-4
allele num: 120470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.157+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.466+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2053T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-981T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.641+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.525T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.51+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.157+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+23T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+23T>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-49500728-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500728
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500728
    reference: chr 12
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-988T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.641+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.518T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.466+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.157+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2060T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.51+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.157+16T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+16T>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

12-49500729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500729
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500729
    reference: chr 12
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.157+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.157+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.51+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.172+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.157+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.157+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.157+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.269+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.157+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2061C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.157+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-989C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.295+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.517C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*132+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.641+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.157+15C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.466+15C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-49500749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500749
    reference: chr 12
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2081C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.497C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.152C>T
  hgvsp: ENSP00000413785.2:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.290C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.264C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.152C>T
  hgvsp: ENSP00000447240.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.152C>T
  hgvsp: ENSP00000394677.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.167C>T
  hgvsp: ENSP00000446641.1:p.Thr56Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.152C>T
  hgvsp: ENSP00000267102.8:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.152C>T
  hgvsp: ENSP00000448973.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.461C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.46C>T
  hgvsp: ENSP00000448128.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.152C>T
  hgvsp: ENSP00000447329.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.152C>T
  hgvsp: ENSP00000449103.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.636C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.152C>T
  hgvsp: ENSP00000449633.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1009C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr51Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-49500751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500751
    reference: chr 12
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.150C>T
  hgvsp: ENST00000547675.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.262C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.150C>T
  hgvsp: ENST00000550137.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.150C>T
  hgvsp: ENST00000267102.8:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.288C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.165C>T
  hgvsp: ENST00000551854.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.150C>T
  hgvsp: ENST00000457164.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.150C>T
  hgvsp: ENST00000417750.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.634C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.150C>T
  hgvsp: ENST00000547382.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.150C>T
  hgvsp: ENST00000551782.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.44C>T
  hgvsp: ENST00000551169.1:c.44C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.459C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2083C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1011C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.150C>T
  hgvsp: ENST00000550815.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.495C>T
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe50Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-49500756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500756
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500756
    reference: chr 12
allele count: 2
allele frequency: 1.656479318855704e-5
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.145G>A
  hgvsp: ENSP00000413785.2:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.145G>A
  hgvsp: ENSP00000447240.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.145G>A
  hgvsp: ENSP00000447329.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*120G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.490G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.145G>A
  hgvsp: ENSP00000449633.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.39G>A
  hgvsp: ENSP00000448128.1:p.Glu14Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2088G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.145G>A
  hgvsp: ENSP00000394677.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.160G>A
  hgvsp: ENSP00000446641.1:p.Glu54Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1016G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.454G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.145G>A
  hgvsp: ENSP00000448973.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.257G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.145G>A
  hgvsp: ENSP00000449103.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.145G>A
  hgvsp: ENSP00000267102.8:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.283G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.629G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu49Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

12-49500773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500773
    reference: chr 12
allele count: 2
allele frequency: 1.656534199148542e-5
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.437G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1033G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.128G>A
  hgvsp: ENSP00000447240.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.128G>A
  hgvsp: ENSP00000413785.2:p.Arg43His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.128G>A
  hgvsp: ENSP00000449103.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.128G>A
  hgvsp: ENSP00000267102.8:p.Arg43His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.128G>A
  hgvsp: ENSP00000394677.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.128G>A
  hgvsp: ENSP00000447329.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.266G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.22G>A
  hgvsp: ENSP00000448128.1:p.Arg8His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.128G>A
  hgvsp: ENSP00000448973.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.143G>A
  hgvsp: ENSP00000446641.1:p.Arg48His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.612G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2105G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.240G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.128G>A
  hgvsp: ENSP00000449633.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.473G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg43His
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

12-49500774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500774
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500774
    reference: chr 12
allele count: 3
allele frequency: 2.484801298722812e-5
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.127C>T
  hgvsp: ENSP00000447329.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.127C>T
  hgvsp: ENSP00000448973.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.265C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.127C>T
  hgvsp: ENSP00000267102.8:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.127C>T
  hgvsp: ENSP00000449103.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.127C>T
  hgvsp: ENSP00000447240.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.142C>T
  hgvsp: ENSP00000446641.1:p.Arg48Cys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.127C>T
  hgvsp: ENSP00000449633.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.239C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.127C>T
  hgvsp: ENSP00000394677.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.611C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.21C>T
  hgvsp: ENSP00000448128.1:p.Arg8Cys
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1034C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.436C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.472C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2106C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.127C>T
  hgvsp: ENSP00000413785.2:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg43Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-49500786-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500786
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500786
    reference: chr 12
allele count: 4
allele frequency: 3.313123281317298e-5
allele num: 120732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.115A>G
  hgvsp: ENSP00000448973.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.424A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.115A>G
  hgvsp: ENSP00000413785.2:p.Ile39Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.599A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.9A>G
  hgvsp: ENSP00000448128.1:p.Ile4Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.115A>G
  hgvsp: ENSP00000267102.8:p.Ile39Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.115A>G
  hgvsp: ENSP00000449633.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.115A>G
  hgvsp: ENSP00000394677.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.115A>G
  hgvsp: ENSP00000447240.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.130A>G
  hgvsp: ENSP00000446641.1:p.Ile44Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.115A>G
  hgvsp: ENSP00000447329.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.227A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.115A>G
  hgvsp: ENSP00000449103.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1046A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2118A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.253A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.460A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile39Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

12-49500791-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500791
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500789
    reference: chr 12
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.108_109delCT
  hgvsp: ENSP00000267102.8:p.Cys37ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.592_593delCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.108_109delCT
  hgvsp: ENSP00000449633.1:p.Cys37ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1053_389-1052delCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.220_221delCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*83_*84delCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.108_109delCT
  hgvsp: ENSP00000447240.1:p.Cys37ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.246_247delCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.2_3delCT
  hgvsp: ENSP00000448128.1:p.Cys2ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.108_109delCT
  hgvsp: ENSP00000447329.1:p.Cys37ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.108_109delCT
  hgvsp: ENSP00000449103.1:p.Cys37ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.108_109delCT
  hgvsp: ENSP00000394677.1:p.Cys37ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.417_418delCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.123_124delCT
  hgvsp: ENSP00000446641.1:p.Cys42ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.108_109delCT
  hgvsp: ENSP00000448973.1:p.Cys37ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.108_109delCT
  hgvsp: ENSP00000413785.2:p.Cys37ProfsTer12
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2125_73-2124delCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.453_454delCT
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys37ProfsTer12
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: CAG
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

12-49500793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500793
    reference: chr 12
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2125C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1053C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.108C>T
  hgvsp: ENST00000550815.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.246C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.453C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.123C>T
  hgvsp: ENST00000551854.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.220C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.108C>T
  hgvsp: ENST00000417750.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.417C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.108C>T
  hgvsp: ENST00000550137.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448128
  ensembl transcript: ENST00000551169
  gene symbol: LMBR1L
  hgvsc: ENST00000551169.1:c.2C>T
  hgvsp: ENST00000551169.1:c.2C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.108C>T
  hgvsp: ENST00000547675.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.108C>T
  hgvsp: ENST00000267102.8:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.108C>T
  hgvsp: ENST00000551782.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.592C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*83C>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.108C>T
  hgvsp: ENST00000547382.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.108C>T
  hgvsp: ENST00000457164.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu36Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-49500794-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500794
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500793
    reference: chr 12
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.106delC
  hgvsp: ENSP00000449633.1:p.Leu36SerfsTer6
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.106delC
  hgvsp: ENSP00000413785.2:p.Leu36SerfsTer6
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.106delC
  hgvsp: ENSP00000447329.1:p.Leu36SerfsTer6
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1055delC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.590delC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.106delC
  hgvsp: ENSP00000394677.1:p.Leu36SerfsTer6
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.415delC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.106delC
  hgvsp: ENSP00000267102.8:p.Leu36SerfsTer6
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.106delC
  hgvsp: ENSP00000449103.1:p.Leu36SerfsTer6
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.218delC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.121delC
  hgvsp: ENSP00000446641.1:p.Leu41SerfsTer6
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.106delC
  hgvsp: ENSP00000448973.1:p.Leu36SerfsTer6
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.244delC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2127delC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.106delC
  hgvsp: ENSP00000447240.1:p.Leu36SerfsTer6
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.451delC
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*81delC
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu36SerfsTer6
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: AG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-49500802-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500802
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500802
    reference: chr 12
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.99G>T
  hgvsp: ENST00000550815.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1062G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.99G>T
  hgvsp: ENST00000547382.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.237G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.99G>T
  hgvsp: ENST00000267102.8:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.211G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.99G>T
  hgvsp: ENST00000547675.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.99G>T
  hgvsp: ENST00000551782.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.99G>T
  hgvsp: ENST00000457164.2:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.583G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.99G>T
  hgvsp: ENST00000550137.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.99G>T
  hgvsp: ENST00000417750.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*74G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.114G>T
  hgvsp: ENST00000551854.1:c.114G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.444G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2134G>T
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.408G>T
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu33Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

12-49500803-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500803
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500803
    reference: chr 12
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.113T>C
  hgvsp: ENSP00000446641.1:p.Leu38Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.98T>C
  hgvsp: ENSP00000413785.2:p.Leu33Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.407T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.210T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.236T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*73T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.98T>C
  hgvsp: ENSP00000267102.8:p.Leu33Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2135T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.98T>C
  hgvsp: ENSP00000447240.1:p.Leu33Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.443T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.98T>C
  hgvsp: ENSP00000447329.1:p.Leu33Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.98T>C
  hgvsp: ENSP00000394677.1:p.Leu33Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.98T>C
  hgvsp: ENSP00000449633.1:p.Leu33Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.98T>C
  hgvsp: ENSP00000449103.1:p.Leu33Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1063T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.98T>C
  hgvsp: ENSP00000448973.1:p.Leu33Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.582T>C
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu33Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-49500807-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500807
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500807
    reference: chr 12
allele count: 2
allele frequency: 1.657028285472833e-5
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2139A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.94A>C
  hgvsp: ENSP00000448973.1:p.Thr32Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.109A>C
  hgvsp: ENSP00000446641.1:p.Thr37Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.206A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.94A>C
  hgvsp: ENSP00000447329.1:p.Thr32Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.94A>C
  hgvsp: ENSP00000267102.8:p.Thr32Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.403A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.94A>C
  hgvsp: ENSP00000447240.1:p.Thr32Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.94A>C
  hgvsp: ENSP00000449103.1:p.Thr32Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.439A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.94A>C
  hgvsp: ENSP00000449633.1:p.Thr32Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1067A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.94A>C
  hgvsp: ENSP00000413785.2:p.Thr32Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.232A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.94A>C
  hgvsp: ENSP00000394677.1:p.Thr32Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.578A>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*69A>C
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr32Pro
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

12-49500811-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500811
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500811
    reference: chr 12
allele count: 2
allele frequency: 1.657165583985152e-5
allele num: 120688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.202T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2143T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.90T>C
  hgvsp: ENST00000550137.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.399T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1071T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.90T>C
  hgvsp: ENST00000551782.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.105T>C
  hgvsp: ENST00000551854.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.435T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.90T>C
  hgvsp: ENST00000267102.8:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.90T>C
  hgvsp: ENST00000457164.2:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*65T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.90T>C
  hgvsp: ENST00000547382.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.90T>C
  hgvsp: ENST00000417750.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.90T>C
  hgvsp: ENST00000550815.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.574T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.90T>C
  hgvsp: ENST00000547675.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.228T>C
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe30Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

12-49500815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500815
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500815
    reference: chr 12
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.86T>C
  hgvsp: ENSP00000449633.1:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.431T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1075T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*61T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.86T>C
  hgvsp: ENSP00000447329.1:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.198T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.86T>C
  hgvsp: ENSP00000448973.1:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.570T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.86T>C
  hgvsp: ENSP00000413785.2:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.86T>C
  hgvsp: ENSP00000449103.1:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.395T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.86T>C
  hgvsp: ENSP00000267102.8:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.224T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2147T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.86T>C
  hgvsp: ENSP00000394677.1:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.86T>C
  hgvsp: ENSP00000447240.1:p.Leu29Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.101T>C
  hgvsp: ENSP00000446641.1:p.Leu34Pro
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu29Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-49500822-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500822
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500822
    reference: chr 12
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.79A>G
  hgvsp: ENSP00000394677.1:p.Thr27Ala
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.79A>G
  hgvsp: ENSP00000449103.1:p.Thr27Ala
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.191A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.79A>G
  hgvsp: ENSP00000448973.1:p.Thr27Ala
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.94A>G
  hgvsp: ENSP00000446641.1:p.Thr32Ala
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.563A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*54A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.79A>G
  hgvsp: ENSP00000413785.2:p.Thr27Ala
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.388A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.424A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.79A>G
  hgvsp: ENSP00000267102.8:p.Thr27Ala
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.79A>G
  hgvsp: ENSP00000447329.1:p.Thr27Ala
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.217A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.79A>G
  hgvsp: ENSP00000447240.1:p.Thr27Ala
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1082A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2154A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.79A>G
  hgvsp: ENSP00000449633.1:p.Thr27Ala
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr27Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-49500825-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500825
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500825
    reference: chr 12
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.76T>C
  hgvsp: ENSP00000447329.1:p.Ser26Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*51T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.76T>C
  hgvsp: ENSP00000449633.1:p.Ser26Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.76T>C
  hgvsp: ENSP00000449103.1:p.Ser26Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.91T>C
  hgvsp: ENSP00000446641.1:p.Ser31Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.188T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.560T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.385T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2157T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.76T>C
  hgvsp: ENSP00000413785.2:p.Ser26Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.76T>C
  hgvsp: ENSP00000448973.1:p.Ser26Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.214T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.76T>C
  hgvsp: ENSP00000267102.8:p.Ser26Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.76T>C
  hgvsp: ENSP00000447240.1:p.Ser26Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1085T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.76T>C
  hgvsp: ENSP00000394677.1:p.Ser26Pro
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.421T>C
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser26Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-49500832-TAGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500832
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500829
    reference: chr 12
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.557-7_557-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*48-7_*48-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.375_377delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.73-7_73-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.73-7_73-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.88-7_88-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.73-7_73-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.73-7_73-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1095_389-1093delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.73-7_73-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.73-7_73-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.211-7_211-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.185-7_185-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.73-7_73-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2167_73-2165delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.418-7_418-5delGCT
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.73-7_73-5delGCT
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.73-7_73-5delGCT
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: TAGC
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-49500833-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500833
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500833
    reference: chr 12
allele count: 2
allele frequency: 1.661405549094534e-5
allele num: 120380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.377T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.73-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.73-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.73-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.88-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.73-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.73-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.211-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.73-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.73-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1093T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.418-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.185-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.73-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2165T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*48-5T>C
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.557-5T>C
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.73-5T>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-49500842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500842
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500842
    reference: chr 12
allele count: 3
allele frequency: 2.499416802746026e-5
allele num: 120028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.557-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.73-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.88-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*48-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2174A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1102A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.73-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.211-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.368A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.73-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.73-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.418-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.73-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.73-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.73-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.185-14A>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.73-14A>G
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-49500856-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49500856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49500856
    reference: chr 12
allele count: 3
allele frequency: 2.505428428261233e-5
allele num: 119740
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.73-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.557-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.73-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.73-2188T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.73-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.73-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.73-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.185-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.389-1116T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.73-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.88-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.73-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.418-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.73-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.211-28T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.365-11T>G
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*48-28T>G
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49503462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49503462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49503462
    reference: chr 12
allele count: 8
allele frequency: 6.489292667099286e-4
allele num: 12328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.184+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.364+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*47+48G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.72+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.417+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.556+48G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.72+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.72+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.72+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.72+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.72+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.388+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.72+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.87+329G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.72+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.72+805G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.210+805G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

12-49503466-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49503466
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49503466
    reference: chr 12
allele count: 1
allele frequency: 8.114248620577734e-5
allele num: 12324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.388+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.87+325C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.417+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.72+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.72+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.72+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.210+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.72+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.184+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.556+44C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.72+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.72+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.364+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.72+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.72+801C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*47+44C>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.72+801C>A
  variant of: http://identifiers.org/hgnc/18268
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-49503506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49503506
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49503506
    reference: chr 12
allele count: 1
allele frequency: 8.144648965629581e-5
allele num: 12278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551535
  gene symbol: LMBR1L
  hgvsc: ENST00000551535.1:n.417+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000448973
  ensembl transcript: ENST00000550815
  gene symbol: LMBR1L
  hgvsc: ENST00000550815.1:c.72+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000413785
  ensembl transcript: ENST00000457164
  gene symbol: LMBR1L
  hgvsc: ENST00000457164.2:c.72+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449103
  ensembl transcript: ENST00000550137
  gene symbol: LMBR1L
  hgvsc: ENST00000550137.1:c.72+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000449633
  ensembl transcript: ENST00000551782
  gene symbol: LMBR1L
  hgvsc: ENST00000551782.1:c.72+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447240
  ensembl transcript: ENST00000547675
  gene symbol: LMBR1L
  hgvsc: ENST00000547675.1:c.72+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000550867
  gene symbol: LMBR1L
  hgvsc: ENST00000550867.1:n.184+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000394677
  ensembl transcript: ENST00000417750
  gene symbol: LMBR1L
  hgvsc: ENST00000417750.1:c.72+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000450032
  ensembl transcript: ENST00000549296
  gene symbol: LMBR1L
  hgvsc: ENST00000549296.1:c.72+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000548983
  gene symbol: LMBR1L
  hgvsc: ENST00000548983.1:n.364+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000551115
  gene symbol: LMBR1L
  hgvsc: ENST00000551115.1:n.556+4G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446641
  ensembl transcript: ENST00000551854
  gene symbol: LMBR1L
  hgvsc: ENST00000551854.1:c.87+285G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000553204
  gene symbol: LMBR1L
  hgvsc: ENST00000553204.1:n.210+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000446718
  ensembl transcript: ENST00000547670
  gene symbol: LMBR1L
  hgvsc: ENST00000547670.1:c.*47+4G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000267102
  ensembl transcript: ENST00000267102
  gene symbol: LMBR1L
  hgvsc: ENST00000267102.8:c.72+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl protein: ENSP00000447329
  ensembl transcript: ENST00000547382
  gene symbol: LMBR1L
  hgvsc: ENST00000547382.1:c.72+761G>A
  variant of: http://identifiers.org/hgnc/18268
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139636
  ensembl transcript: ENST00000552153
  gene symbol: LMBR1L
  hgvsc: ENST00000552153.1:n.388+761G>A
  variant of: http://identifiers.org/hgnc/18268
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*47+4G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/12-49503508-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49503508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49503507
allele count: 16
allele frequency: 1.303143834500733e-3
allele num: 12278
alternate allele: A
canonical: false
consequence: splice donor
filter: PASS
hgvs: c.*47+1delG
num of homozygotes: 1
reference allele: AC

GenotypeDepth
all individuals: 1816
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1253
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7872
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1929
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7619
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 922
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8158
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6133
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2756
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2808
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1820
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4329
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26423
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3857
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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African
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European (Finnish)
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South Asian
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FS
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MQ
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DP
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QD
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MQRankSum
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VQSLOD
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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South Asian
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DP
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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MQ
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MQRankSum
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DP
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VQSLOD
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QD
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ReadPosRankSum
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African
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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East Asian
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VQSLOD
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DP
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MQ
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 706
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.54320987654321e-3
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.70573e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.71e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.137e-1

FS
type: SiteQuality
SIO_000300: 3.256e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.587e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2220
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2855
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3985
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 169
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variant carriers: 0

GenotypeDepth
all individuals: 448
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variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 214
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variant carriers: 0

GenotypeDepth
all individuals: 78
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variant carriers: 0

GenotypeDepth
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 2444
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variant carriers: 9

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

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

GenotypeQuality
all individuals: 3641
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1354
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 444
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 802
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.263583522870862e-3
allele num: 7914
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.548e1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 3.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 3.71316e5

GenotypeDepth
all individuals: 2622
bin: 2.5e0
variant carriers: 270

GenotypeDepth
all individuals: 1330
bin: 2.75e1
variant carriers: 169

GenotypeDepth
all individuals: 190
bin: 5.25e1
variant carriers: 107

GenotypeDepth
all individuals: 134
bin: 8.25e1
variant carriers: 120

GenotypeDepth
all individuals: 188
bin: 5.75e1
variant carriers: 133

GenotypeDepth
all individuals: 342
bin: 7.5e0
variant carriers: 159

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 128

GenotypeDepth
all individuals: 343
bin: 4.25e1
variant carriers: 72

GenotypeDepth
all individuals: 610
bin: 3.75e1
variant carriers: 103

GenotypeDepth
all individuals: 982
bin: 3.25e1
variant carriers: 121

GenotypeDepth
all individuals: 275
bin: 4.75e1
variant carriers: 103

GenotypeDepth
all individuals: 106
bin: 1.25e1
variant carriers: 38

GenotypeDepth
all individuals: 110
bin: 1.75e1
variant carriers: 90

GenotypeDepth
all individuals: 128
bin: 8.75e1
variant carriers: 121

GenotypeDepth
all individuals: 123
bin: 9.25e1
variant carriers: 115

GenotypeDepth
all individuals: 130
bin: 7.25e1
variant carriers: 123

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1808
bin: 7.5e0
variant carriers: 172

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 32

GenotypeQuality
all individuals: 795
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 52

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1906
bin: 6.25e1
variant carriers: 18

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 14

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 59

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 345
bin: 7.75e1
variant carriers: 22

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 48

GenotypeQuality
all individuals: 256
bin: 8.25e1
variant carriers: 20

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 15

GenotypeQuality
all individuals: 616
bin: 6.75e1
variant carriers: 27

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 25

GenotypeQuality
all individuals: 7261
bin: 9.75e1
variant carriers: 6587

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 15

GenotypeQuality
all individuals: 268
bin: 7.25e1
variant carriers: 11

European (Finnish)
type: Population
allele count: 551
allele frequency: 3.722972972972973e-1
allele num: 1480
num of homozygotes: 94

East Asian
type: Population
allele count: 468
allele frequency: 7.134146341463414e-1
allele num: 656
num of homozygotes: 171

Latino
type: Population
allele count: 152
allele frequency: 3.689320388349515e-1
allele num: 412
num of homozygotes: 30

African
type: Population
allele count: 636
allele frequency: 2.309368191721133e-1
allele num: 2754
num of homozygotes: 76

South Asian
type: Population
allele count: 3914
allele frequency: 4.945665908516553e-1
allele num: 7914
num of homozygotes: 1006

European (Non-Finnish)
type: Population
allele count: 2742
allele frequency: 3.137299771167048e-1
allele num: 8740
num of homozygotes: 442

Other
type: Population
allele count: 109
allele frequency: 4.504132231404959e-1
allele num: 242
num of homozygotes: 25

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

QD
type: SiteQuality
SIO_000300: 1.78e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.081189e6

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.069e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e0

GenotypeDepth
all individuals: 351
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1235
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.25e1
variant carriers: 4

GenotypeDepth
all individuals: 210
bin: 5.75e1
variant carriers: 8

GenotypeDepth
all individuals: 182
bin: 8.75e1
variant carriers: 4

GenotypeDepth
all individuals: 180
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3478
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variant carriers: 2

GenotypeDepth
all individuals: 230
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variant carriers: 9

GenotypeDepth
all individuals: 478
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variant carriers: 3

GenotypeDepth
all individuals: 3679
bin: 9.75e1
variant carriers: 92

GenotypeDepth
all individuals: 189
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variant carriers: 6

GenotypeDepth
all individuals: 1468
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variant carriers: 1

GenotypeDepth
all individuals: 181
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variant carriers: 8

GenotypeDepth
all individuals: 270
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variant carriers: 6

GenotypeQuality
all individuals: 3085
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 253
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 314
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variant carriers: 0

GenotypeQuality
all individuals: 711
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variant carriers: 0

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

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 6203
bin: 9.75e1
variant carriers: 152

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 6.885471654808355e-4
allele num: 8714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.260504201680672e-2
allele num: 238
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

African
type: Population
allele count: 141
allele frequency: 5.11611030478955e-2
allele num: 2756
num of homozygotes: 2

Latino
type: Population
allele count: 2
allele frequency: 4.854368932038835e-3
allele num: 412
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.426e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

DP
type: SiteQuality
SIO_000300: 7.96898e5

QD
type: SiteQuality
SIO_000300: 1.369e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

GenotypeDepth
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 346
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 681
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variant carriers: 1

GenotypeDepth
all individuals: 400
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variant carriers: 0

GenotypeDepth
all individuals: 3648
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variant carriers: 9

GenotypeDepth
all individuals: 482
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variant carriers: 0

GenotypeDepth
all individuals: 184
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GenotypeDepth
all individuals: 3623
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GenotypeDepth
all individuals: 1419
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variant carriers: 0

GenotypeDepth
all individuals: 176
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GenotypeDepth
all individuals: 1080
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GenotypeDepth
all individuals: 50
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GenotypeDepth
all individuals: 1208
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GenotypeDepth
all individuals: 272
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GenotypeDepth
all individuals: 226
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GenotypeDepth
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 439
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6166
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 165
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variant carriers: 0

GenotypeQuality
all individuals: 710
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 3221
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variant carriers: 0

GenotypeQuality
all individuals: 256
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 5.076142131979695e-3
allele num: 2758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.149161112387957e-4
allele num: 8702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1240
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 7.87688e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

QD
type: SiteQuality
SIO_000300: 1.429e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

GenotypeDepth
all individuals: 228
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variant carriers: 2

GenotypeDepth
all individuals: 186
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variant carriers: 0

GenotypeDepth
all individuals: 209
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GenotypeDepth
all individuals: 176
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GenotypeDepth
all individuals: 198
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GenotypeDepth
all individuals: 267
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GenotypeDepth
all individuals: 1369
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GenotypeDepth
all individuals: 3647
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variant carriers: 8

GenotypeDepth
all individuals: 483
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GenotypeDepth
all individuals: 43
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GenotypeDepth
all individuals: 1143
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GenotypeDepth
all individuals: 187
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variant carriers: 2

GenotypeDepth
all individuals: 182
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GenotypeDepth
all individuals: 208
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GenotypeDepth
all individuals: 346
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1067
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 6167
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 415
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.75e1
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GenotypeQuality
all individuals: 3598
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 255
bin: 9.25e1
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GenotypeQuality
all individuals: 11
bin: 4.25e1
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GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 16
allele frequency: 5.801305293691081e-3
allele num: 2758
num of homozygotes: 1

Latino
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MQ
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African
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DP
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FS
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MQRankSum
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SIO_000300: -4.33e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeDepth
all individuals: 366
bin: 4.75e1
variant carriers: 226

GenotypeDepth
all individuals: 1006
bin: 3.25e1
variant carriers: 203

GenotypeDepth
all individuals: 173
bin: 8.25e1
variant carriers: 172

GenotypeDepth
all individuals: 167
bin: 7.25e1
variant carriers: 165

GenotypeDepth
all individuals: 12053
bin: 2.5e0
variant carriers: 1639

GenotypeDepth
all individuals: 1132
bin: 2.75e1
variant carriers: 165

GenotypeDepth
all individuals: 205
bin: 7.75e1
variant carriers: 202

GenotypeDepth
all individuals: 189
bin: 5.75e1
variant carriers: 155

GenotypeDepth
all individuals: 166
bin: 6.25e1
variant carriers: 148

GenotypeDepth
all individuals: 853
bin: 2.25e1
variant carriers: 105

GenotypeDepth
all individuals: 265
bin: 5.25e1
variant carriers: 200

GenotypeDepth
all individuals: 120
bin: 1.75e1
variant carriers: 97

GenotypeDepth
all individuals: 219
bin: 8.75e1
variant carriers: 217

GenotypeDepth
all individuals: 261
bin: 9.25e1
variant carriers: 257

GenotypeDepth
all individuals: 182
bin: 6.75e1
variant carriers: 172

GenotypeDepth
all individuals: 661
bin: 3.75e1
variant carriers: 211

GenotypeDepth
all individuals: 3834
bin: 9.75e1
variant carriers: 3825

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 20

GenotypeQuality
all individuals: 4031
bin: 2.5e0
variant carriers: 10

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 110

GenotypeQuality
all individuals: 319
bin: 7.75e1
variant carriers: 40

GenotypeQuality
all individuals: 496
bin: 1.25e1
variant carriers: 421

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 202

GenotypeQuality
all individuals: 570
bin: 2.25e1
variant carriers: 202

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 70

GenotypeQuality
all individuals: 7280
bin: 9.75e1
variant carriers: 6852

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 48

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 91

GenotypeQuality
all individuals: 7831
bin: 7.5e0
variant carriers: 971

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 32

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 47

GenotypeQuality
all individuals: 266
bin: 7.25e1
variant carriers: 33

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 75

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 18

GenotypeQuality
all individuals: 1637
bin: 6.25e1
variant carriers: 84

GenotypeQuality
all individuals: 409
bin: 1.75e1
variant carriers: 334

GenotypeQuality
all individuals: 600
bin: 6.75e1
variant carriers: 76

Other
type: Population
allele count: 97
allele frequency: 4.663461538461539e-1
allele num: 208
num of homozygotes: 23

European (Non-Finnish)
type: Population
allele count: 2774
allele frequency: 3.182652592932538e-1
allele num: 8716
num of homozygotes: 444

South Asian
type: Population
allele count: 3985
allele frequency: 5.034108135421931e-1
allele num: 7916
num of homozygotes: 1039

Latino
type: Population
allele count: 187
allele frequency: 4.082969432314411e-1
allele num: 458
num of homozygotes: 41

African
type: Population
allele count: 1421
allele frequency: 5.003521126760564e-1
allele num: 2840
num of homozygotes: 361

East Asian
type: Population
allele count: 502
allele frequency: 7.130681818181818e-1
allele num: 704
num of homozygotes: 182

European (Finnish)
type: Population
allele count: 108
allele frequency: 4.736842105263158e-1
allele num: 228
num of homozygotes: 17

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.748e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.95e0

DP
type: SiteQuality
SIO_000300: 8.56319e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

QD
type: SiteQuality
SIO_000300: 1.964e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeDepth
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2385
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1473
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1124
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2351
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1719
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
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variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
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variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 586
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 820
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 1427
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variant carriers: 0

GenotypeQuality
all individuals: 575
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variant carriers: 0

GenotypeQuality
all individuals: 14958
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variant carriers: 0

GenotypeQuality
all individuals: 431
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 790
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3805
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.151277918489523e-4
allele num: 8686
num of homozygotes: 0

East Asian
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: 452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.29469e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.556e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.078e0

QD
type: SiteQuality
SIO_000300: 1.48e1

GenotypeDepth
all individuals: 920
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1122
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2358
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1468
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18062
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2338
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
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variant carriers: 0

GenotypeDepth
all individuals: 586
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16178
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 561
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 561
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
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variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

East Asian
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: 118
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.943e1

DP
type: SiteQuality
SIO_000300: 4.31652e5

VQSLOD
type: SiteQuality
SIO_000300: -2.782e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.14e-2

GenotypeDepth
all individuals: 1466
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 586
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1098
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1947
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21360
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2322
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 920
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
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variant carriers: 1

GenotypeDepth
all individuals: 321
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
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variant carriers: 0

GenotypeDepth
all individuals: 2315
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 801
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variant carriers: 0

GenotypeQuality
all individuals: 560
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variant carriers: 0

GenotypeQuality
all individuals: 19283
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.262626262626263e-4
allele num: 7920
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.703e0

VQSLOD
type: SiteQuality
SIO_000300: -5.168e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.38269e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.891e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeDepth
all individuals: 2211
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
all individuals: 25883
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 918
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 184
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variant carriers: 0

GenotypeDepth
all individuals: 2908
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 584
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
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variant carriers: 0

GenotypeDepth
all individuals: 1455
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variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
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variant carriers: 0

GenotypeDepth
all individuals: 63
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variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
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variant carriers: 0

GenotypeQuality
all individuals: 23733
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2059
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.68e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.52103e5

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 5.33e0

VQSLOD
type: SiteQuality
SIO_000300: -2.645e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.537e0

GenotypeDepth
all individuals: 1449
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 672
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2209
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variant carriers: 0

GenotypeDepth
all individuals: 121
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variant carriers: 0

GenotypeDepth
all individuals: 103
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variant carriers: 0

GenotypeDepth
all individuals: 68
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variant carriers: 1

GenotypeDepth
all individuals: 916
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 78
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variant carriers: 0

GenotypeDepth
all individuals: 203
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variant carriers: 0

GenotypeDepth
all individuals: 320
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 1.260716086737267e-4
allele num: 7932
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8826
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.797e0

InbreedingCoeff
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SIO_000300: -6.8e-2

FS
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.628e1

DP
type: SiteQuality
SIO_000300: 4.7029e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.45e0

GenotypeDepth
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bin: 1.25e1
variant carriers: 8

GenotypeDepth
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variant carriers: 22

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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: 8

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.256317689530686e-4
allele num: 8864
num of homozygotes: 0

East Asian
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allele count: 16
allele frequency: 2.17983651226158e-2
allele num: 734
num of homozygotes: 1

Latino
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allele count: 13
allele frequency: 2.685950413223141e-2
allele num: 484
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.26008064516129e-4
allele num: 7936
num of homozygotes: 0

VQSLOD
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SIO_000300: 4.85e0

InbreedingCoeff
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SIO_000300: -6.44e-2

BaseQRankSum
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SIO_000300: 7.2e-1

ClippingRankSum
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 5.73e-1

QD
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SIO_000300: 1.358e1

DP
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SIO_000300: 4.74018e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 3.58e-1

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.682e1

QD
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SIO_000300: 1.472e1

VQSLOD
type: SiteQuality
SIO_000300: -2.03e-2

InbreedingCoeff
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SIO_000300: -6.759999999999999e-2

ReadPosRankSum
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SIO_000300: 0.0e0

FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
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SIO_000300: -7.2e-1

BaseQRankSum
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SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 4.78804e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.258811681772407e-4
allele num: 7944
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.763e1

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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DP
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Non-Finnish)
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African
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East Asian
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South Asian
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allele count: 0
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European (Finnish)
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BaseQRankSum
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SIO_000300: -1.032e0

MQRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.526251526251526e-3
allele num: 16380
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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Latino
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Other
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FS
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66620
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Other
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Latino
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South Asian
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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QD
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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European (Finnish)
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Latino
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FS
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MQ
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 2.31696014828545e-4
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Other
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South Asian
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allele frequency: 6.056201550387597e-5
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African
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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SIO_000300: -6.37e-1

FS
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SIO_000300: 3.209e0

ClippingRankSum
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SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

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

African
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num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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Other
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East Asian
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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QD
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MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 2.01e0

DP
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MQ
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SIO_000300: 5.937e1

ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -1.87e-1

QD
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SIO_000300: 1.624e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

African
type: Population
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allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

Other
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allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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East Asian
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
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num of homozygotes: 0

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

African
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South Asian
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East Asian
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Other
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QD
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FS
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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SIO_000300: 1.705e1

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

European (Non-Finnish)
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allele num: 66552
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele num: 66400
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European (Finnish)
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South Asian
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East Asian
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African
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 2.21483942414175e-3
allele num: 3612
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.997e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.99e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.108e0

DP
type: SiteQuality
SIO_000300: 1.72539e5

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.016e1

VQSLOD
type: SiteQuality
SIO_000300: -6.005e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3610
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.312680493567866e-4
allele num: 7618
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.937e0

ClippingRankSum
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SIO_000300: 8.999999999999999e-3

DP
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SIO_000300: 1.7216e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
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SIO_000300: -5.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
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SIO_000300: -3.94e-2

BaseQRankSum
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SIO_000300: -6.01e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.314405888538381e-4
allele num: 7608
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.733e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

FS
type: SiteQuality
SIO_000300: 8.647e0

InbreedingCoeff
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SIO_000300: -3.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

DP
type: SiteQuality
SIO_000300: 1.71391e5

QD
type: SiteQuality
SIO_000300: 6.57e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0