10-55943355-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943355
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943355
    reference: chr 10
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30341A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133676A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326332A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12088A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-2A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50588A>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1441-2A>C
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-55943362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943362
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943362
    reference: chr 10
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326339C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133669C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30334C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50595C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12081C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-9C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-9C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/10-55943364-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943364
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943364
    reference: chr 10
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326341T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30332T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12079T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50597T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133667T>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

10-55943365-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943365
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943365
    reference: chr 10
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12078C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326342C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30331C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50598C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-12C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133666C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-12C>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

10-55943373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943373
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943373
    reference: chr 10
allele count: 11
allele frequency: 9.06409136604097e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326350G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12070G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50606G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133658G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30323G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

10-55943380-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943380
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943380
    reference: chr 10
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30316A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50613A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326357A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133651A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12063A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-27A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-27A>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

10-55943392-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943392
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943392
    reference: chr 10
allele count: 2
allele frequency: 1.648587160803192e-5
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326369C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50625C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133639C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12051C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-39C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30304C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-39C>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/10-55943395-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943395
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943395
    reference: chr 10
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326372T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30301T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12048T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50628T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133636T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-42T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-42T>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

10-55943396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943396
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943396
    reference: chr 10
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50629T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133635T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30300T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12047T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326373T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-43T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-43T>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

10-55943397-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943397
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943397
    reference: chr 10
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133634A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12046A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30299A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50630A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-44A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326374A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-44A>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

10-55943400-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55943400
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55943400
    reference: chr 10
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1375-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1441-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1456-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1441-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1330-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+30296T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-326377T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1441-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1441-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1441-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.274-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+12043T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1441-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1441-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1462-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-50633T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+133631T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1375-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1462-47T>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1441-47T>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

10-55944843-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944843
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944843
    reference: chr 10
allele count: 2
allele frequency: 1.668696914579405e-5
allele num: 119854
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28853T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327820T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+51T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132188T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52076T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10600T>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

10-55944844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944844
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944844
    reference: chr 10
allele count: 1
allele frequency: 8.328752519447637e-6
allele num: 120066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28852G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52077G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327821G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10599G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+50G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132187G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+50G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

10-55944850-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944850
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944850
    reference: chr 10
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327827A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10593A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28846A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52083A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132181A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+44A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+44A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

10-55944862-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944862
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944862
    reference: chr 10
allele count: 3
allele frequency: 2.490990916186459e-5
allele num: 120434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10581A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52095A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327839A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28834A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+32A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132169A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+32A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

10-55944863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944863
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944863
    reference: chr 10
allele count: 6
allele frequency: 4.980906524987548e-5
allele num: 120460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327840T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28833T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52096T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132168T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+31T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10580T>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

10-55944864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944864
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944864
    reference: chr 10
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132167G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10579G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+30G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52097G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327841G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28832G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+30G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

10-55944868-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944868
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944868
    reference: chr 10
allele count: 3
allele frequency: 2.487727212418734e-5
allele num: 120592
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52101A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327845A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28828A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10575A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+26A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132163A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

10-55944872-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944872
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944872
    reference: chr 10
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28824A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327849A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132159A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52105A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10571A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+22A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+22A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

10-55944877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944877
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944877
    reference: chr 10
allele count: 2
allele frequency: 1.654834599281802e-5
allele num: 120858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52110T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132154T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327854T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28819T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10566T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+17T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+17T>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS

10-55944879-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944879
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944879
    reference: chr 10
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327856T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52112T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132152T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10564T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28817T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+15T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+15T>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/10-55944883-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944883
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944883
    reference: chr 10
allele count: 2
allele frequency: 1.652428243303535e-5
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28813T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52116T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132148T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10560T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327860T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+11T>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

10-55944887-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944887
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944887
    reference: chr 10
allele count: 9
allele frequency: 7.432979303282074e-5
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132144A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327864A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10556A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52120A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28809A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+7A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+7A>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1440+7A>C
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

10-55944890-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944890
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944890
    reference: chr 10
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1374+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10553A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327867A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52123A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1329+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440+4A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132141A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461+4A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1440+4A>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

10-55944894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944894
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944894
    reference: chr 10
allele count: 7
allele frequency: 5.777388950330962e-5
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1440G>A
  hgvsp: ENST00000395446.1:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327871G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1455G>A
  hgvsp: ENST00000414778.1:c.1455G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1440G>A
  hgvsp: ENST00000373955.1:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1440G>A
  hgvsp: ENST00000395430.1:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1440G>A
  hgvsp: ENST00000437009.1:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1440G>A
  hgvsp: ENST00000320301.6:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1374G>A
  hgvsp: ENST00000395433.1:c.1374G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1440G>A
  hgvsp: ENST00000448885.1:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1440G>A
  hgvsp: ENST00000361849.3:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1461G>A
  hgvsp: ENST00000373965.2:c.1461G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.273G>A
  hgvsp: ENST00000409834.1:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28802G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1461G>A
  hgvsp: ENST00000395445.1:c.1461G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10549G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52127G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132137G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1440G>A
  hgvsp: ENST00000395438.1:c.1440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1440G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

10-55944900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944900
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944900
    reference: chr 10
allele count: 5
allele frequency: 4.124595789612618e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1455C>T
  hgvsp: ENST00000373965.2:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28796C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1434C>T
  hgvsp: ENST00000448885.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1434C>T
  hgvsp: ENST00000395446.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1434C>T
  hgvsp: ENST00000437009.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1323C>T
  hgvsp: ENST00000395432.2:c.1323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1434C>T
  hgvsp: ENST00000395430.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1434C>T
  hgvsp: ENST00000395438.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1434C>T
  hgvsp: ENST00000320301.6:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1455C>T
  hgvsp: ENST00000395445.1:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10543C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.267C>T
  hgvsp: ENST00000409834.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1434C>T
  hgvsp: ENST00000361849.3:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1434C>T
  hgvsp: ENST00000373955.1:c.1434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1368C>T
  hgvsp: ENST00000373957.3:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1368C>T
  hgvsp: ENST00000395433.1:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132131C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52133C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1449C>T
  hgvsp: ENST00000414778.1:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr478Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

10-55944913-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944913
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944913
    reference: chr 10
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1421A>G
  hgvsp: ENSP00000354950.3:p.Gln474Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1421A>G
  hgvsp: ENSP00000322604.6:p.Gln474Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1421A>G
  hgvsp: ENSP00000378826.1:p.Gln474Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1355A>G
  hgvsp: ENSP00000378821.1:p.Gln452Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.254A>G
  hgvsp: ENSP00000386693.1:p.Gln85Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1436A>G
  hgvsp: ENSP00000410304.1:p.Gln479Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327890A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28783A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1421A>G
  hgvsp: ENSP00000378833.1:p.Gln474Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1442A>G
  hgvsp: ENSP00000378832.1:p.Gln481Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52146A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1421A>G
  hgvsp: ENSP00000412628.1:p.Gln474Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1442A>G
  hgvsp: ENSP00000363076.2:p.Gln481Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1310A>G
  hgvsp: ENSP00000378820.2:p.Gln437Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1421A>G
  hgvsp: ENSP00000412320.1:p.Gln474Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1355A>G
  hgvsp: ENSP00000363068.3:p.Gln452Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1421A>G
  hgvsp: ENSP00000363066.1:p.Gln474Arg
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132118A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10530A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln474Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

10-55944917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944917
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944917
    reference: chr 10
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327894G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52150G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1417G>A
  hgvsp: ENSP00000363066.1:p.Glu473Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1417G>A
  hgvsp: ENSP00000354950.3:p.Glu473Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1417G>A
  hgvsp: ENSP00000378818.1:p.Glu473Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1438G>A
  hgvsp: ENSP00000363076.2:p.Glu480Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.250G>A
  hgvsp: ENSP00000386693.1:p.Glu84Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1417G>A
  hgvsp: ENSP00000378826.1:p.Glu473Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1432G>A
  hgvsp: ENSP00000410304.1:p.Glu478Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1351G>A
  hgvsp: ENSP00000363068.3:p.Glu451Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1417G>A
  hgvsp: ENSP00000378833.1:p.Glu473Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1306G>A
  hgvsp: ENSP00000378820.2:p.Glu436Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1351G>A
  hgvsp: ENSP00000378821.1:p.Glu451Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1417G>A
  hgvsp: ENSP00000322604.6:p.Glu473Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1417G>A
  hgvsp: ENSP00000412320.1:p.Glu473Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1438G>A
  hgvsp: ENSP00000378832.1:p.Glu480Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1417G>A
  hgvsp: ENSP00000412628.1:p.Glu473Lys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28779G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132114G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu473Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

10-55944928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944928
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944928
    reference: chr 10
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1340T>C
  hgvsp: ENSP00000378821.1:p.Val447Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1340T>C
  hgvsp: ENSP00000363068.3:p.Val447Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1406T>C
  hgvsp: ENSP00000412320.1:p.Val469Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1295T>C
  hgvsp: ENSP00000378820.2:p.Val432Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1406T>C
  hgvsp: ENSP00000378833.1:p.Val469Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1406T>C
  hgvsp: ENSP00000322604.6:p.Val469Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1406T>C
  hgvsp: ENSP00000412628.1:p.Val469Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.239T>C
  hgvsp: ENSP00000386693.1:p.Val80Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28768T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1406T>C
  hgvsp: ENSP00000363066.1:p.Val469Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10515T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52161T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1427T>C
  hgvsp: ENSP00000363076.2:p.Val476Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132103T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1427T>C
  hgvsp: ENSP00000378832.1:p.Val476Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1406T>C
  hgvsp: ENSP00000378818.1:p.Val469Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1406T>C
  hgvsp: ENSP00000378826.1:p.Val469Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1406T>C
  hgvsp: ENSP00000354950.3:p.Val469Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327905T>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val469Ala
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

10-55944943-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944943
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944943
    reference: chr 10
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1391C>A
  hgvsp: ENSP00000363066.1:p.Thr464Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1391C>A
  hgvsp: ENSP00000412320.1:p.Thr464Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1391C>A
  hgvsp: ENSP00000378833.1:p.Thr464Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1406C>A
  hgvsp: ENSP00000410304.1:p.Thr469Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1280C>A
  hgvsp: ENSP00000378820.2:p.Thr427Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1412C>A
  hgvsp: ENSP00000363076.2:p.Thr471Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1391C>A
  hgvsp: ENSP00000354950.3:p.Thr464Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28753C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1325C>A
  hgvsp: ENSP00000363068.3:p.Thr442Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1391C>A
  hgvsp: ENSP00000412628.1:p.Thr464Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132088C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1325C>A
  hgvsp: ENSP00000378821.1:p.Thr442Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52176C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1391C>A
  hgvsp: ENSP00000322604.6:p.Thr464Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1412C>A
  hgvsp: ENSP00000378832.1:p.Thr471Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1391C>A
  hgvsp: ENSP00000378818.1:p.Thr464Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.224C>A
  hgvsp: ENSP00000386693.1:p.Thr75Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327920C>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10500C>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr464Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

10-55944949-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944949
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944949
    reference: chr 10
allele count: 11
allele frequency: 9.064987721062087e-5
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132082A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.218A>G
  hgvsp: ENSP00000386693.1:p.Tyr73Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1385A>G
  hgvsp: ENSP00000378818.1:p.Tyr462Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1385A>G
  hgvsp: ENSP00000354950.3:p.Tyr462Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1406A>G
  hgvsp: ENSP00000378832.1:p.Tyr469Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52182A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1319A>G
  hgvsp: ENSP00000378821.1:p.Tyr440Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1274A>G
  hgvsp: ENSP00000378820.2:p.Tyr425Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1385A>G
  hgvsp: ENSP00000378833.1:p.Tyr462Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1385A>G
  hgvsp: ENSP00000378826.1:p.Tyr462Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1385A>G
  hgvsp: ENSP00000412628.1:p.Tyr462Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1385A>G
  hgvsp: ENSP00000412320.1:p.Tyr462Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1406A>G
  hgvsp: ENSP00000363076.2:p.Tyr469Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28747A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1400A>G
  hgvsp: ENSP00000410304.1:p.Tyr467Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327926A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1385A>G
  hgvsp: ENSP00000322604.6:p.Tyr462Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1385A>G
  hgvsp: ENSP00000363066.1:p.Tyr462Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10494A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr462Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

10-55944952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944952
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944952
    reference: chr 10
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52185G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1382G>A
  hgvsp: ENSP00000378826.1:p.Arg461His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1382G>A
  hgvsp: ENSP00000378833.1:p.Arg461His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.215G>A
  hgvsp: ENSP00000386693.1:p.Arg72His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1271G>A
  hgvsp: ENSP00000378820.2:p.Arg424His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327929G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1316G>A
  hgvsp: ENSP00000378821.1:p.Arg439His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1382G>A
  hgvsp: ENSP00000412628.1:p.Arg461His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132079G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1403G>A
  hgvsp: ENSP00000363076.2:p.Arg468His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1382G>A
  hgvsp: ENSP00000412320.1:p.Arg461His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1382G>A
  hgvsp: ENSP00000363066.1:p.Arg461His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1382G>A
  hgvsp: ENSP00000322604.6:p.Arg461His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1382G>A
  hgvsp: ENSP00000378818.1:p.Arg461His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1397G>A
  hgvsp: ENSP00000410304.1:p.Arg466His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1403G>A
  hgvsp: ENSP00000378832.1:p.Arg468His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28744G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1316G>A
  hgvsp: ENSP00000363068.3:p.Arg439His
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1382G>A
  hgvsp: ENSP00000354950.3:p.Arg461His
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg461His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

10-55944953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944953
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944953
    reference: chr 10
allele count: 23
allele frequency: 1.895469004961184e-4
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1381C>T
  hgvsp: ENSP00000412628.1:p.Arg461Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1396C>T
  hgvsp: ENSP00000410304.1:p.Arg466Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1402C>T
  hgvsp: ENSP00000378832.1:p.Arg468Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1270C>T
  hgvsp: ENSP00000378820.2:p.Arg424Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.214C>T
  hgvsp: ENSP00000386693.1:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1381C>T
  hgvsp: ENSP00000322604.6:p.Arg461Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1381C>T
  hgvsp: ENSP00000412320.1:p.Arg461Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1315C>T
  hgvsp: ENSP00000378821.1:p.Arg439Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1381C>T
  hgvsp: ENSP00000378833.1:p.Arg461Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1315C>T
  hgvsp: ENSP00000363068.3:p.Arg439Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1402C>T
  hgvsp: ENSP00000363076.2:p.Arg468Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52186C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1381C>T
  hgvsp: ENSP00000363066.1:p.Arg461Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10490C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1381C>T
  hgvsp: ENSP00000378818.1:p.Arg461Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28743C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327930C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1381C>T
  hgvsp: ENSP00000354950.3:p.Arg461Cys
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132078C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg461Cys
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

10-55944955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944955
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944955
    reference: chr 10
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132076C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1400C>T
  hgvsp: ENSP00000363076.2:p.Thr467Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1379C>T
  hgvsp: ENSP00000378833.1:p.Thr460Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1379C>T
  hgvsp: ENSP00000378818.1:p.Thr460Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1313C>T
  hgvsp: ENSP00000363068.3:p.Thr438Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1313C>T
  hgvsp: ENSP00000378821.1:p.Thr438Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1379C>T
  hgvsp: ENSP00000363066.1:p.Thr460Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52188C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1268C>T
  hgvsp: ENSP00000378820.2:p.Thr423Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1400C>T
  hgvsp: ENSP00000378832.1:p.Thr467Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1379C>T
  hgvsp: ENSP00000378826.1:p.Thr460Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1379C>T
  hgvsp: ENSP00000322604.6:p.Thr460Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1379C>T
  hgvsp: ENSP00000412628.1:p.Thr460Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10488C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.212C>T
  hgvsp: ENSP00000386693.1:p.Thr71Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28741C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327932C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1394C>T
  hgvsp: ENSP00000410304.1:p.Thr465Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1379C>T
  hgvsp: ENSP00000354950.3:p.Thr460Ile
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr460Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

10-55944957-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944957
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944957
    reference: chr 10
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1398T>C
  hgvsp: ENST00000373965.2:c.1398T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1377T>C
  hgvsp: ENST00000395430.1:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1377T>C
  hgvsp: ENST00000448885.1:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1377T>C
  hgvsp: ENST00000437009.1:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1398T>C
  hgvsp: ENST00000395445.1:c.1398T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1266T>C
  hgvsp: ENST00000395432.2:c.1266T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1311T>C
  hgvsp: ENST00000395433.1:c.1311T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52190T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10486T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1377T>C
  hgvsp: ENST00000395438.1:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.210T>C
  hgvsp: ENST00000409834.1:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1392T>C
  hgvsp: ENST00000414778.1:c.1392T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1377T>C
  hgvsp: ENST00000395446.1:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1377T>C
  hgvsp: ENST00000373955.1:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1377T>C
  hgvsp: ENST00000320301.6:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1311T>C
  hgvsp: ENST00000373957.3:c.1311T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1377T>C
  hgvsp: ENST00000361849.3:c.1377T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28739T>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132074T>C
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile459Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-55944961-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944961
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944961
    reference: chr 10
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1394G>C
  hgvsp: ENSP00000363076.2:p.Gly465Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1373G>C
  hgvsp: ENSP00000412320.1:p.Gly458Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327938G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52194G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.206G>C
  hgvsp: ENSP00000386693.1:p.Gly69Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1388G>C
  hgvsp: ENSP00000410304.1:p.Gly463Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1373G>C
  hgvsp: ENSP00000354950.3:p.Gly458Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1373G>C
  hgvsp: ENSP00000378833.1:p.Gly458Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1373G>C
  hgvsp: ENSP00000412628.1:p.Gly458Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1373G>C
  hgvsp: ENSP00000322604.6:p.Gly458Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1262G>C
  hgvsp: ENSP00000378820.2:p.Gly421Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1307G>C
  hgvsp: ENSP00000363068.3:p.Gly436Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10482G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1307G>C
  hgvsp: ENSP00000378821.1:p.Gly436Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1394G>C
  hgvsp: ENSP00000378832.1:p.Gly465Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132070G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28735G>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1373G>C
  hgvsp: ENSP00000363066.1:p.Gly458Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1373G>C
  hgvsp: ENSP00000378826.1:p.Gly458Ala
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly458Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

10-55944961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944961
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944961
    reference: chr 10
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1394G>A
  hgvsp: ENSP00000378832.1:p.Gly465Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1394G>A
  hgvsp: ENSP00000363076.2:p.Gly465Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1373G>A
  hgvsp: ENSP00000412320.1:p.Gly458Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1373G>A
  hgvsp: ENSP00000412628.1:p.Gly458Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1373G>A
  hgvsp: ENSP00000378833.1:p.Gly458Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52194G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1373G>A
  hgvsp: ENSP00000378826.1:p.Gly458Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1373G>A
  hgvsp: ENSP00000322604.6:p.Gly458Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1262G>A
  hgvsp: ENSP00000378820.2:p.Gly421Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132070G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1388G>A
  hgvsp: ENSP00000410304.1:p.Gly463Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28735G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1373G>A
  hgvsp: ENSP00000363066.1:p.Gly458Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.206G>A
  hgvsp: ENSP00000386693.1:p.Gly69Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1307G>A
  hgvsp: ENSP00000378821.1:p.Gly436Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1373G>A
  hgvsp: ENSP00000378818.1:p.Gly458Asp
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10482G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327938G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1373G>A
  hgvsp: ENSP00000354950.3:p.Gly458Asp
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly458Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

10-55944972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944972
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944972
    reference: chr 10
allele count: 104
allele frequency: 8.570675105485233e-4
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327949C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1296C>T
  hgvsp: ENST00000373957.3:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10471C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1362C>T
  hgvsp: ENST00000373955.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1362C>T
  hgvsp: ENST00000320301.6:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132059C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1251C>T
  hgvsp: ENST00000395432.2:c.1251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1362C>T
  hgvsp: ENST00000437009.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1362C>T
  hgvsp: ENST00000361849.3:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.195C>T
  hgvsp: ENST00000409834.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1296C>T
  hgvsp: ENST00000395433.1:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1362C>T
  hgvsp: ENST00000395446.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1383C>T
  hgvsp: ENST00000373965.2:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1383C>T
  hgvsp: ENST00000395445.1:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1362C>T
  hgvsp: ENST00000448885.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28724C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1362C>T
  hgvsp: ENST00000395438.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1377C>T
  hgvsp: ENST00000414778.1:c.1377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val454Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/10-55944974-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944974
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944974
    reference: chr 10
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.193G>T
  hgvsp: ENSP00000386693.1:p.Val65Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1360G>T
  hgvsp: ENSP00000412628.1:p.Val454Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1381G>T
  hgvsp: ENSP00000363076.2:p.Val461Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1381G>T
  hgvsp: ENSP00000378832.1:p.Val461Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1360G>T
  hgvsp: ENSP00000378833.1:p.Val454Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1360G>T
  hgvsp: ENSP00000378818.1:p.Val454Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1360G>T
  hgvsp: ENSP00000378826.1:p.Val454Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1360G>T
  hgvsp: ENSP00000363066.1:p.Val454Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1294G>T
  hgvsp: ENSP00000363068.3:p.Val432Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1375G>T
  hgvsp: ENSP00000410304.1:p.Val459Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1360G>T
  hgvsp: ENSP00000412320.1:p.Val454Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1294G>T
  hgvsp: ENSP00000378821.1:p.Val432Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327951G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1249G>T
  hgvsp: ENSP00000378820.2:p.Val417Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1360G>T
  hgvsp: ENSP00000322604.6:p.Val454Phe
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52207G>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28722G>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val454Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

10-55944974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944974
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944974
    reference: chr 10
allele count: 397
allele frequency: 3.27179825284325e-3
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1360G>A
  hgvsp: ENSP00000363066.1:p.Val454Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.193G>A
  hgvsp: ENSP00000386693.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1294G>A
  hgvsp: ENSP00000378821.1:p.Val432Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10469G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132057G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1360G>A
  hgvsp: ENSP00000412628.1:p.Val454Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1375G>A
  hgvsp: ENSP00000410304.1:p.Val459Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1360G>A
  hgvsp: ENSP00000322604.6:p.Val454Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1249G>A
  hgvsp: ENSP00000378820.2:p.Val417Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1381G>A
  hgvsp: ENSP00000378832.1:p.Val461Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1360G>A
  hgvsp: ENSP00000354950.3:p.Val454Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1360G>A
  hgvsp: ENSP00000378818.1:p.Val454Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1360G>A
  hgvsp: ENSP00000412320.1:p.Val454Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52207G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327951G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1360G>A
  hgvsp: ENSP00000378833.1:p.Val454Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1360G>A
  hgvsp: ENSP00000378826.1:p.Val454Ile
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val454Ile
num of homozygotes: 6
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

10-55944975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944975
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944975
    reference: chr 10
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1374C>T
  hgvsp: ENST00000414778.1:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.192C>T
  hgvsp: ENST00000409834.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1359C>T
  hgvsp: ENST00000395430.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1359C>T
  hgvsp: ENST00000395446.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1359C>T
  hgvsp: ENST00000320301.6:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1359C>T
  hgvsp: ENST00000448885.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1359C>T
  hgvsp: ENST00000373955.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1359C>T
  hgvsp: ENST00000437009.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1380C>T
  hgvsp: ENST00000373965.2:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1359C>T
  hgvsp: ENST00000395438.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1293C>T
  hgvsp: ENST00000395433.1:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1293C>T
  hgvsp: ENST00000373957.3:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327952C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10468C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1248C>T
  hgvsp: ENST00000395432.2:c.1248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1380C>T
  hgvsp: ENST00000395445.1:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132056C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1359C>T
  hgvsp: ENST00000361849.3:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28721C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr453Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

10-55944987-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944987
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944987
    reference: chr 10
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1347C>G
  hgvsp: ENST00000437009.1:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1347C>G
  hgvsp: ENST00000395430.1:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327964C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1281C>G
  hgvsp: ENST00000373957.3:c.1281C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1347C>G
  hgvsp: ENST00000395446.1:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132044C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1347C>G
  hgvsp: ENST00000361849.3:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.180C>G
  hgvsp: ENST00000409834.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1347C>G
  hgvsp: ENST00000395438.1:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1362C>G
  hgvsp: ENST00000414778.1:c.1362C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1347C>G
  hgvsp: ENST00000320301.6:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10456C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1236C>G
  hgvsp: ENST00000395432.2:c.1236C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1368C>G
  hgvsp: ENST00000395445.1:c.1368C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1347C>G
  hgvsp: ENST00000373955.1:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28709C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1281C>G
  hgvsp: ENST00000395433.1:c.1281C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1347C>G
  hgvsp: ENST00000448885.1:c.1347C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52220C>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr449Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

10-55944988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944988
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944988
    reference: chr 10
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1346C>T
  hgvsp: ENSP00000412628.1:p.Thr449Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1346C>T
  hgvsp: ENSP00000322604.6:p.Thr449Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1346C>T
  hgvsp: ENSP00000363066.1:p.Thr449Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1235C>T
  hgvsp: ENSP00000378820.2:p.Thr412Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1280C>T
  hgvsp: ENSP00000378821.1:p.Thr427Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1346C>T
  hgvsp: ENSP00000412320.1:p.Thr449Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132043C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1367C>T
  hgvsp: ENSP00000378832.1:p.Thr456Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1280C>T
  hgvsp: ENSP00000363068.3:p.Thr427Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1346C>T
  hgvsp: ENSP00000354950.3:p.Thr449Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1361C>T
  hgvsp: ENSP00000410304.1:p.Thr454Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1367C>T
  hgvsp: ENSP00000363076.2:p.Thr456Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.179C>T
  hgvsp: ENSP00000386693.1:p.Thr60Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1346C>T
  hgvsp: ENSP00000378833.1:p.Thr449Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1346C>T
  hgvsp: ENSP00000378818.1:p.Thr449Ile
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52221C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28708C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10455C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327965C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr449Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS

10-55944995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55944995
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55944995
    reference: chr 10
allele count: 24
allele frequency: 1.97830459296383e-4
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327972G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1339G>A
  hgvsp: ENSP00000322604.6:p.Asp447Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1273G>A
  hgvsp: ENSP00000363068.3:p.Asp425Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.172G>A
  hgvsp: ENSP00000386693.1:p.Asp58Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1273G>A
  hgvsp: ENSP00000378821.1:p.Asp425Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1339G>A
  hgvsp: ENSP00000378833.1:p.Asp447Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1339G>A
  hgvsp: ENSP00000378818.1:p.Asp447Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1360G>A
  hgvsp: ENSP00000378832.1:p.Asp454Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1339G>A
  hgvsp: ENSP00000412320.1:p.Asp447Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1339G>A
  hgvsp: ENSP00000354950.3:p.Asp447Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1339G>A
  hgvsp: ENSP00000412628.1:p.Asp447Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132036G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1354G>A
  hgvsp: ENSP00000410304.1:p.Asp452Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1360G>A
  hgvsp: ENSP00000363076.2:p.Asp454Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1228G>A
  hgvsp: ENSP00000378820.2:p.Asp410Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1339G>A
  hgvsp: ENSP00000378826.1:p.Asp447Asn
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10448G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp447Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

10-55945007-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945007
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945007
    reference: chr 10
allele count: 5
allele frequency: 4.12173970389422e-5
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1342C>G
  hgvsp: ENSP00000410304.1:p.Leu448Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1348C>G
  hgvsp: ENSP00000363076.2:p.Leu450Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1327C>G
  hgvsp: ENSP00000412628.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52240C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1327C>G
  hgvsp: ENSP00000363066.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1261C>G
  hgvsp: ENSP00000363068.3:p.Leu421Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1261C>G
  hgvsp: ENSP00000378821.1:p.Leu421Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10436C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1327C>G
  hgvsp: ENSP00000378826.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1327C>G
  hgvsp: ENSP00000322604.6:p.Leu443Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1348C>G
  hgvsp: ENSP00000378832.1:p.Leu450Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1216C>G
  hgvsp: ENSP00000378820.2:p.Leu406Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28689C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1327C>G
  hgvsp: ENSP00000412320.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1327C>G
  hgvsp: ENSP00000354950.3:p.Leu443Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.160C>G
  hgvsp: ENSP00000386693.1:p.Leu54Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327984C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132024C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1327C>G
  hgvsp: ENSP00000378833.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu443Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

10-55945013-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945013
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945013
    reference: chr 10
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1321C>G
  hgvsp: ENSP00000412320.1:p.Leu441Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1321C>G
  hgvsp: ENSP00000363066.1:p.Leu441Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1342C>G
  hgvsp: ENSP00000363076.2:p.Leu448Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1321C>G
  hgvsp: ENSP00000354950.3:p.Leu441Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327990C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1255C>G
  hgvsp: ENSP00000378821.1:p.Leu419Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52246C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1342C>G
  hgvsp: ENSP00000378832.1:p.Leu448Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1321C>G
  hgvsp: ENSP00000322604.6:p.Leu441Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1321C>G
  hgvsp: ENSP00000412628.1:p.Leu441Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.154C>G
  hgvsp: ENSP00000386693.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28683C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1336C>G
  hgvsp: ENSP00000410304.1:p.Leu446Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1321C>G
  hgvsp: ENSP00000378818.1:p.Leu441Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10430C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132018C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1321C>G
  hgvsp: ENSP00000378826.1:p.Leu441Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1321C>G
  hgvsp: ENSP00000378833.1:p.Leu441Val
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1255C>G
  hgvsp: ENSP00000363068.3:p.Leu419Val
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu441Val
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ

10-55945017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945017
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945017
    reference: chr 10
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1338A>G
  hgvsp: ENST00000395445.1:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1206A>G
  hgvsp: ENST00000395432.2:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1317A>G
  hgvsp: ENST00000395446.1:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1338A>G
  hgvsp: ENST00000373965.2:c.1338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1251A>G
  hgvsp: ENST00000373957.3:c.1251A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52250A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1317A>G
  hgvsp: ENST00000437009.1:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1317A>G
  hgvsp: ENST00000373955.1:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1317A>G
  hgvsp: ENST00000395430.1:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1317A>G
  hgvsp: ENST00000320301.6:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1317A>G
  hgvsp: ENST00000395438.1:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1332A>G
  hgvsp: ENST00000414778.1:c.1332A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132014A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1317A>G
  hgvsp: ENST00000448885.1:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-327994A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1317A>G
  hgvsp: ENST00000361849.3:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28679A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1251A>G
  hgvsp: ENST00000395433.1:c.1251A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.150A>G
  hgvsp: ENST00000409834.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro439Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

10-55945021-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945021
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945021
    reference: chr 10
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10422A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1313A>C
  hgvsp: ENSP00000378826.1:p.Asp438Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1334A>C
  hgvsp: ENSP00000363076.2:p.Asp445Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1313A>C
  hgvsp: ENSP00000322604.6:p.Asp438Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1313A>C
  hgvsp: ENSP00000412320.1:p.Asp438Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28675A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1247A>C
  hgvsp: ENSP00000363068.3:p.Asp416Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132010A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1313A>C
  hgvsp: ENSP00000363066.1:p.Asp438Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1313A>C
  hgvsp: ENSP00000412628.1:p.Asp438Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1247A>C
  hgvsp: ENSP00000378821.1:p.Asp416Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52254A>C
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1202A>C
  hgvsp: ENSP00000378820.2:p.Asp401Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1328A>C
  hgvsp: ENSP00000410304.1:p.Asp443Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.146A>C
  hgvsp: ENSP00000386693.1:p.Asp49Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1334A>C
  hgvsp: ENSP00000378832.1:p.Asp445Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1313A>C
  hgvsp: ENSP00000378833.1:p.Asp438Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1313A>C
  hgvsp: ENSP00000378818.1:p.Asp438Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1313A>C
  hgvsp: ENSP00000354950.3:p.Asp438Ala
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp438Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

10-55945028-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945028
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945028
    reference: chr 10
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306A>G
  hgvsp: ENSP00000322604.6:p.Thr436Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306A>G
  hgvsp: ENSP00000412628.1:p.Thr436Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195A>G
  hgvsp: ENSP00000378820.2:p.Thr399Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306A>G
  hgvsp: ENSP00000378826.1:p.Thr436Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306A>G
  hgvsp: ENSP00000363066.1:p.Thr436Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327A>G
  hgvsp: ENSP00000363076.2:p.Thr443Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10415A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139A>G
  hgvsp: ENSP00000386693.1:p.Thr47Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321A>G
  hgvsp: ENSP00000410304.1:p.Thr441Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+132003A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240A>G
  hgvsp: ENSP00000378821.1:p.Thr414Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328005A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306A>G
  hgvsp: ENSP00000378818.1:p.Thr436Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240A>G
  hgvsp: ENSP00000363068.3:p.Thr414Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327A>G
  hgvsp: ENSP00000378832.1:p.Thr443Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28668A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306A>G
  hgvsp: ENSP00000412320.1:p.Thr436Ala
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306A>G
  hgvsp: ENSP00000378833.1:p.Thr436Ala
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr436Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

10-55945033-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945033
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945034
    reference: chr 10
allele count: 18
allele frequency: 1.487947624243627e-4
allele num: 120972
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131997dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28662dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328011dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10409dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52267dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-6dupT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-6dupT
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1306-6dupT
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

10-55945033-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945033
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945032
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 120972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131997delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28662delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328011delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10409delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-6delT
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-6delT
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1306-6delT
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: GA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/10-55945039-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945039
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945039
    reference: chr 10
allele count: 3
allele frequency: 2.476637057094739e-5
allele num: 121132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328016T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10404T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52272T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-11T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28657T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131992T>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-11T>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

10-55945041-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945041
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945040
    reference: chr 10
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10401delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52275delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328019delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131989delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28654delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-14delA
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-14delA
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: AT
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

10-55945048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945048
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945048
    reference: chr 10
allele count: 4
allele frequency: 3.308026927339188e-5
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131983G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28648G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10395G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52281G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328025G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-20G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-20G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

10-55945049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945049
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945049
    reference: chr 10
allele count: 76
allele frequency: 6.284523533886812e-4
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328026C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10394C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52282C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131982C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28647C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-21C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-21C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

10-55945049-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945049
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945049
    reference: chr 10
allele count: 20
allele frequency: 1.653821982601793e-4
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28647C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52282C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10394C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328026C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-21C>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131982C>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

10-55945057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945057
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945057
    reference: chr 10
allele count: 3
allele frequency: 2.482703829984442e-5
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28639G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131974G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-29G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328034G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52290G>A
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10386G>A
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

10-55945058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945058
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945058
    reference: chr 10
allele count: 7
allele frequency: 5.794030493154767e-5
allele num: 120814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28638C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52291C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10385C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328035C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131973C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-30C>T
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-30C>T
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

10-55945059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945059
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945059
    reference: chr 10
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10384A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328036A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52292A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28637A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-31A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131972A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

10-55945071-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945071
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945071
    reference: chr 10
allele count: 2
allele frequency: 1.657577616071872e-5
allele num: 120658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000322604
  ensembl transcript: ENST00000320301
  gene symbol: PCDH15
  hgvsc: ENST00000320301.6:c.1306-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378827
  ensembl transcript: ENST00000395440
  gene symbol: PCDH15
  hgvsc: ENST00000395440.1:c.1305+10372A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28625A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131960A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl transcript: ENST00000495484
  gene symbol: PCDH15
  hgvsc: ENST00000495484.1:n.368-328048A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363067
  ensembl transcript: ENST00000373956
  gene symbol: PCDH15
  hgvsc: ENST00000373956.3:c.92-52304A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378826
  ensembl transcript: ENST00000395438
  gene symbol: PCDH15
  hgvsc: ENST00000395438.1:c.1306-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-43A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000410304
  ensembl transcript: ENST00000414778
  gene symbol: PCDH15
  hgvsc: ENST00000414778.1:c.1321-43A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

10-55945073-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55945073
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 55945073
    reference: chr 10
allele count: 12
allele frequency: 9.953219866626854e-5
allele num: 120564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412628
  ensembl transcript: ENST00000437009
  gene symbol: PCDH15
  hgvsc: ENST00000437009.1:c.1306-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363076
  ensembl transcript: ENST00000373965
  gene symbol: PCDH15
  hgvsc: ENST00000373965.2:c.1327-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412531
  ensembl transcript: ENST00000414367
  gene symbol: PCDH15
  hgvsc: ENST00000414367.1:c.876+131958A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363068
  ensembl transcript: ENST00000373957
  gene symbol: PCDH15
  hgvsc: ENST00000373957.3:c.1240-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378820
  ensembl transcript: ENST00000395432
  gene symbol: PCDH15
  hgvsc: ENST00000395432.2:c.1195-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378832
  ensembl transcript: ENST00000395445
  gene symbol: PCDH15
  hgvsc: ENST00000395445.1:c.1327-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378818
  ensembl transcript: ENST00000395430
  gene symbol: PCDH15
  hgvsc: ENST00000395430.1:c.1306-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000363066
  ensembl transcript: ENST00000373955
  gene symbol: PCDH15
  hgvsc: ENST00000373955.1:c.1306-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378833
  ensembl transcript: ENST00000395446
  gene symbol: PCDH15
  hgvsc: ENST00000395446.1:c.1306-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000386693
  ensembl transcript: ENST00000409834
  gene symbol: PCDH15
  hgvsc: ENST00000409834.1:c.139-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378829
  ensembl transcript: ENST00000395442
  gene symbol: PCDH15
  hgvsc: ENST00000395442.1:c.1098+28623A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000378821
  ensembl transcript: ENST00000395433
  gene symbol: PCDH15
  hgvsc: ENST00000395433.1:c.1240-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000412320
  ensembl transcript: ENST00000448885
  gene symbol: PCDH15
  hgvsc: ENST00000448885.1:c.1306-45A>G
  variant of: http://identifiers.org/hgnc/14674
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150275
  ensembl protein: ENSP00000354950
  ensembl transcript: ENST00000361849
  gene symbol: PCDH15
  hgvsc: ENST00000361849.3:c.1306-45A>G
  variant of: http://identifiers.org/hgnc/14674
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 6936
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 5535
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6825
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2980
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4034
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1131
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 661
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 935
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7504
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1590
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2036
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7618
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5378
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2860
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4251
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3109
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2433
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 3.53e1

VQSLOD
type: SiteQuality
SIO_000300: -5.902e0

DP
type: SiteQuality
SIO_000300: 3.350147e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 8.275e0

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.889e0

GenotypeDepth
all individuals: 2978
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1589
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7620
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7501
bin: 4.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 397
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5534
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6933
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1131
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6823
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4252
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 935
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4034
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 660
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2860
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5377
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2036
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42068
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

DP
type: SiteQuality
SIO_000300: 3.349805e6

FS
type: SiteQuality
SIO_000300: 1.576e0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

GenotypeDepth
all individuals: 660
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1590
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2975
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 397
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5377
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2860
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6934
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7620
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7502
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2035
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6823
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 935
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4250
bin: 9.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 1131
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5530
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42067
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1417
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1853
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1503
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 14618
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 22544
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016318281905107e-5
allele num: 66306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

DP
type: SiteQuality
SIO_000300: 2.109579e6

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

FS
type: SiteQuality
SIO_000300: 3.435e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.46e-1

QD
type: SiteQuality
SIO_000300: 1.394e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
all individuals: 15288
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9280
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2009
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4701
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1460
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2664
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 633
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variant carriers: 0

GenotypeDepth
all individuals: 1008
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variant carriers: 0

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

GenotypeDepth
all individuals: 16706
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1614
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variant carriers: 0

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

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 9.25e1
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: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22967
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 2.115327e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 1008
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15396
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1614
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 867
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variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2008
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4706
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 236
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9320
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16903
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2668
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 86
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variant carriers: 0

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

GenotypeQuality
all individuals: 7342
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14620
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 4382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009328919650918e-5
allele num: 66460
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.323e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 2.119827e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 1.933e0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4706
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2008
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15452
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1460
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2667
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9326
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16953
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1615
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7360
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23414
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.224e-1

FS
type: SiteQuality
SIO_000300: 1.635e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.121267e6

MQ
type: SiteQuality
SIO_000300: 5.732e1

GenotypeDepth
all individuals: 133
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9345
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2669
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2009
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17003
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15510
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1615
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14619
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23559
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4390
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 2.5868e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.155e0

DP
type: SiteQuality
SIO_000300: 2.123213e6

QD
type: SiteQuality
SIO_000300: 1.35e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363076
ensembl transcript: ENST00000373965
gene symbol: PCDH15
hgvsc: ENST00000373965.2:c.1461+7A>C
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2670
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15554
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4707
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9359
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17018
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1327
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2009
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1614
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1207
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1010
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1459
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 23619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14623
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 7405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3180
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.043357291908185e-3
allele num: 8626
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

FS
type: SiteQuality
SIO_000300: 2.211e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 2.124795e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.291e0

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378829
ensembl transcript: ENST00000395442
gene symbol: PCDH15
hgvsc: ENST00000395442.1:c.1098+28806A>G
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 4708
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17026
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1460
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1614
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15587
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2671
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2009
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 868
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1327
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9368
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14616
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.58e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.125378e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363068
ensembl transcript: ENST00000373957
gene symbol: PCDH15
hgvsc: ENST00000373957.3:c.1374G>A
hgvsp: ENST00000373957.3:c.1374G>A(p.%3D)
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378820
ensembl transcript: ENST00000395432
gene symbol: PCDH15
hgvsc: ENST00000395432.2:c.1329G>A
hgvsp: ENST00000395432.2:c.1329G>A(p.%3D)
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 871
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2011
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4711
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9379
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1327
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15610
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17026
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1616
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1462
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2675
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7420
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14622
bin: 9.75e1
variant carriers: 7

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.604166666666667e-4
allele num: 11520
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

DP
type: SiteQuality
SIO_000300: 2.126783e6

QD
type: SiteQuality
SIO_000300: 1.177e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.139e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl transcript: ENST00000495484
gene symbol: PCDH15
hgvsc: ENST00000495484.1:n.368-327877C>T
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1010
bin: 9.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4709
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9399
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1615
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17021
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1328
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2674
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15653
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2011
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14620
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 1508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23737
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424536307431204e-4
allele num: 16498
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.127666e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.908e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.162e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.294e1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378818
ensembl transcript: ENST00000395430
gene symbol: PCDH15
hgvsc: ENST00000395430.1:c.1421A>G
hgvsp: ENSP00000378818.1:p.Gln474Arg
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 17007
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2669
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15693
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4710
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9413
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2011
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1615
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14618
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -6.13e-1

FS
type: SiteQuality
SIO_000300: 2.166e0

DP
type: SiteQuality
SIO_000300: 2.128178e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378827
ensembl transcript: ENST00000395440
gene symbol: PCDH15
hgvsc: ENST00000395440.1:c.1305+10526G>A
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 2012
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9416
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1616
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4713
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2668
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17014
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15694
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 868
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23783
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4400
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7447
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.944e0

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.922e0

QD
type: SiteQuality
SIO_000300: 1.275e1

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.287e0

DP
type: SiteQuality
SIO_000300: 2.128404e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000410304
ensembl transcript: ENST00000414778
gene symbol: PCDH15
hgvsc: ENST00000414778.1:c.1421T>C
hgvsp: ENSP00000410304.1:p.Val474Ala
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 15720
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2012
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1327
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17000
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4716
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 870
bin: 7.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 1008
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2671
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1616
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9415
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14620
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3477
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 2.128966e6

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.145e1

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378826
ensembl transcript: ENST00000395438
gene symbol: PCDH15
hgvsc: ENST00000395438.1:c.1391C>A
hgvsp: ENSP00000378826.1:p.Thr464Asn
variant of: http://identifiers.org/hgnc/14674

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

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15735
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2013
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4715
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16985
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9421
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 868
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2670
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 305
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7463
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4398
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14618
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.092e1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.129132e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363068
ensembl transcript: ENST00000373957
gene symbol: PCDH15
hgvsc: ENST00000373957.3:c.1319A>G
hgvsp: ENSP00000363068.3:p.Tyr440Cys
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 1615
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4715
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1018
bin: 9.75e1
variant carriers: 10

GenotypeDepth
all individuals: 2673
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16981
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2009
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15731
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1462
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9422
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4398
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23784
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14624
bin: 9.75e1
variant carriers: 11

South Asian
type: Population
allele count: 6
allele frequency: 3.63460140537921e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.784359093012494e-4
allele num: 8644
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e0

FS
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.130086e6

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.373e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378827
ensembl transcript: ENST00000395440
gene symbol: PCDH15
hgvsc: ENST00000395440.1:c.1305+10491G>A
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 15742
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2674
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 868
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2010
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16970
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1011
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1618
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4718
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1462
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9421
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14621
bin: 9.75e1
variant carriers: 4

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49734656552634e-5
allele num: 66706
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.284e1

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

FS
type: SiteQuality
SIO_000300: 1.751e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

DP
type: SiteQuality
SIO_000300: 2.129724e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378826
ensembl transcript: ENST00000395438
gene symbol: PCDH15
hgvsc: ENST00000395438.1:c.1381C>T
hgvsp: ENSP00000378826.1:p.Arg461Cys
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2669
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1615
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16971
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4713
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15740
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1023
bin: 9.75e1
variant carriers: 16

GenotypeDepth
all individuals: 1462
bin: 5.75e1
variant carriers: 1

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

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

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

GenotypeDepth
all individuals: 634
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2011
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 867
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 464
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 9420
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14629
bin: 9.75e1
variant carriers: 22

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

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 18
allele frequency: 1.090380421613763e-3
allele num: 16508
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.219e1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 2.131559e6

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.66e-2

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000412320
ensembl transcript: ENST00000448885
gene symbol: PCDH15
hgvsc: ENST00000448885.1:c.1379C>T
hgvsp: ENSP00000412320.1:p.Thr460Ile
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 9423
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16967
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1616
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15747
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2670
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2011
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4714
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1011
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4401
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7464
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: -1.101e0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.587e0

DP
type: SiteQuality
SIO_000300: 2.12962e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl transcript: ENST00000495484
gene symbol: PCDH15
hgvsc: ENST00000495484.1:n.368-327934T>C
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9427
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1616
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1011
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15746
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2670
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16964
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2011
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23795
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4402
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.224e1

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 2.129646e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378818
ensembl transcript: ENST00000395430
gene symbol: PCDH15
hgvsc: ENST00000395430.1:c.1373G>C
hgvsp: ENSP00000378818.1:p.Gly458Ala
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 1012
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 16962
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1616
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15750
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9427
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4711
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2669
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2011
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23795
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7463
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.278e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 2.129689e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363068
ensembl transcript: ENST00000373957
gene symbol: PCDH15
hgvsc: ENST00000373957.3:c.1307G>A
hgvsp: ENSP00000363068.3:p.Gly436Asp
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 1012
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2011
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15750
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2669
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1461
bin: 5.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16962
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4711
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1616
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9427
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23795
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14620
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7463
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.278e1

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 2.129689e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

Annotation
canonical: false
clinical significance: benign
consequence: synonymous_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378818
ensembl transcript: ENST00000395430
gene symbol: PCDH15
hgvsc: ENST00000395430.1:c.1362C>T
hgvsp: ENST00000395430.1:c.1362C>T(p.%3D)
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
clinical significance: benign
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363067
ensembl transcript: ENST00000373956
gene symbol: PCDH15
hgvsc: ENST00000373956.3:c.92-52205C>T
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 16923
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 646
bin: 7.75e1
variant carriers: 11

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2659
bin: 4.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 15743
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9410
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1057
bin: 9.75e1
variant carriers: 55

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

GenotypeDepth
all individuals: 1331
bin: 6.25e1
variant carriers: 5

GenotypeDepth
all individuals: 1614
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 305
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1459
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4703
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2010
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 466
bin: 8.25e1
variant carriers: 6

GenotypeDepth
all individuals: 874
bin: 7.25e1
variant carriers: 6

GenotypeDepth
all individuals: 1211
bin: 6.75e1
variant carriers: 8

GenotypeDepth
all individuals: 230
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4399
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1503
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14676
bin: 9.75e1
variant carriers: 104

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7455
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23754
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 84
allele frequency: 8.073817762399077e-3
allele num: 10404
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 6
allele frequency: 5.187618882932734e-4
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798992564164068e-4
allele num: 66704
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.752e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 2.137554e6

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378827
ensembl transcript: ENST00000395440
gene symbol: PCDH15
hgvsc: ENST00000395440.1:c.1305+10469G>T
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: true
clinical significance: benign
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000354950
ensembl transcript: ENST00000361849
gene symbol: PCDH15
hgvsc: ENST00000361849.3:c.1360G>T
hgvsp: ENSP00000354950.3:p.Val454Phe
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
clinical significance: benign
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000412531
ensembl transcript: ENST00000414367
gene symbol: PCDH15
hgvsc: ENST00000414367.1:c.876+132057G>T
variant of: http://identifiers.org/hgnc/14674

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

GenotypeDepth
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4676
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1612
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1996
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1328
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9382
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1465
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 882
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16858
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2639
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15693
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1490
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 23715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14806
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.361e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.21e-2

DP
type: SiteQuality
SIO_000300: 2.161137e6

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378829
ensembl transcript: ENST00000395442
gene symbol: PCDH15
hgvsc: ENST00000395442.1:c.1098+28722G>A
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
clinical significance: benign
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363076
ensembl transcript: ENST00000373965
gene symbol: PCDH15
hgvsc: ENST00000373965.2:c.1381G>A
hgvsp: ENSP00000363076.2:p.Val461Ile
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
clinical significance: benign
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363068
ensembl transcript: ENST00000373957
gene symbol: PCDH15
hgvsc: ENST00000373957.3:c.1294G>A
hgvsp: ENSP00000363068.3:p.Val432Ile
variant of: http://identifiers.org/hgnc/14674

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

GenotypeDepth
all individuals: 9382
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4676
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1612
bin: 5.25e1
variant carriers: 10

GenotypeDepth
all individuals: 882
bin: 7.25e1
variant carriers: 19

GenotypeDepth
all individuals: 316
bin: 8.75e1
variant carriers: 14

GenotypeDepth
all individuals: 1328
bin: 6.25e1
variant carriers: 9

GenotypeDepth
all individuals: 16858
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1996
bin: 4.75e1
variant carriers: 5

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

GenotypeDepth
all individuals: 15693
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2639
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 470
bin: 8.25e1
variant carriers: 14

GenotypeDepth
all individuals: 1224
bin: 6.75e1
variant carriers: 24

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

GenotypeDepth
all individuals: 654
bin: 7.75e1
variant carriers: 24

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1465
bin: 5.75e1
variant carriers: 15

GenotypeDepth
all individuals: 245
bin: 9.25e1
variant carriers: 18

GenotypeDepth
all individuals: 1201
bin: 9.75e1
variant carriers: 232

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14806
bin: 9.75e1
variant carriers: 391

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

GenotypeQuality
all individuals: 23715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 362
allele frequency: 3.479430988081507e-2
allele num: 10404
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798992564164068e-4
allele num: 66704
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.642745979595366e-3
allele num: 11566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.21e-2

DP
type: SiteQuality
SIO_000300: 2.161137e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.23e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363067
ensembl transcript: ENST00000373956
gene symbol: PCDH15
hgvsc: ENST00000373956.3:c.92-52208C>T
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 2023
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4718
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1327
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2657
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1467
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9474
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15784
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1624
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16872
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3209
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.69e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 2.129082e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363076
ensembl transcript: ENST00000373965
gene symbol: PCDH15
hgvsc: ENST00000373965.2:c.1368C>G
hgvsp: ENST00000373965.2:c.1368C>G(p.%3D)
variant of: http://identifiers.org/hgnc/14674

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

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9471
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16869
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4717
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15789
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2658
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1623
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1467
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4407
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2172
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 23814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7488
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.128995e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.134e0

MQ
type: SiteQuality
SIO_000300: 5.861e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.385e0

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 9.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378826
ensembl transcript: ENST00000395438
gene symbol: PCDH15
hgvsc: ENST00000395438.1:c.1346C>T
hgvsp: ENSP00000378826.1:p.Thr449Ile
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 306
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1624
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16868
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15789
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9471
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2658
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4717
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1325
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2022
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1467
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 984
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4407
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3207
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14550
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.283e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

DP
type: SiteQuality
SIO_000300: 2.128845e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363067
ensembl transcript: ENST00000373956
gene symbol: PCDH15
hgvsc: ENST00000373956.3:c.92-52228G>A
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378829
ensembl transcript: ENST00000395442
gene symbol: PCDH15
hgvsc: ENST00000395442.1:c.1098+28701G>A
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363066
ensembl transcript: ENST00000373955
gene symbol: PCDH15
hgvsc: ENST00000373955.1:c.1339G>A
hgvsp: ENSP00000363066.1:p.Asp447Asn
variant of: http://identifiers.org/hgnc/14674

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

GenotypeDepth
all individuals: 9468
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 636
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 870
bin: 7.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 16841
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1624
bin: 5.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 4718
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 995
bin: 9.75e1
variant carriers: 11

GenotypeDepth
all individuals: 15785
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2658
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2023
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23786
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14565
bin: 9.75e1
variant carriers: 24

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.448482667626244e-4
allele num: 66696
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.014e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.130343e6

QD
type: SiteQuality
SIO_000300: 1.272e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378818
ensembl transcript: ENST00000395430
gene symbol: PCDH15
hgvsc: ENST00000395430.1:c.1327C>G
hgvsp: ENSP00000378818.1:p.Leu443Val
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 2661
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15793
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16823
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2023
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1325
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1624
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9473
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4719
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14548
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.497375918428549e-5
allele num: 66690
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 1.148e1

DP
type: SiteQuality
SIO_000300: 2.129049e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

VQSLOD
type: SiteQuality
SIO_000300: 9.409999999999999e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378820
ensembl transcript: ENST00000395432
gene symbol: PCDH15
hgvsc: ENST00000395432.2:c.1210C>G
hgvsp: ENSP00000378820.2:p.Leu404Val
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 9475
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16804
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15782
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1622
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4722
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2662
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2025
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14547
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3201
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

QD
type: SiteQuality
SIO_000300: 1.086e1

DP
type: SiteQuality
SIO_000300: 2.128405e6

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378827
ensembl transcript: ENST00000395440
gene symbol: PCDH15
hgvsc: ENST00000395440.1:c.1305+10426A>G
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1325
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2663
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4721
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9473
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1468
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16779
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15776
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2025
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1622
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14549
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3201
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.128035e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.445e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 8.19e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl transcript: ENST00000495484
gene symbol: PCDH15
hgvsc: ENST00000495484.1:n.368-327998A>C
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 16741
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9472
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15767
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 636
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4720
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1622
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2660
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2021
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14546
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

FS
type: SiteQuality
SIO_000300: 3.699e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.127308e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363067
ensembl transcript: ENST00000373956
gene symbol: PCDH15
hgvsc: ENST00000373956.3:c.92-52261A>G
variant of: http://identifiers.org/hgnc/14674

Annotation
canonical: true
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000354950
ensembl transcript: ENST00000361849
gene symbol: PCDH15
hgvsc: ENST00000361849.3:c.1306A>G
hgvsp: ENSP00000354950.3:p.Thr436Ala
variant of: http://identifiers.org/hgnc/14674

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

GenotypeDepth
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2019
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1468
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9467
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16685
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1623
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1325
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15776
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2660
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4713
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4400
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23614
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14546
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: -1.002e0

FS
type: SiteQuality
SIO_000300: 5.838e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.091e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 2.126567e6

QD
type: SiteQuality
SIO_000300: 1.259e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000378832
ensembl transcript: ENST00000395445
gene symbol: PCDH15
hgvsc: ENST00000395445.1:c.1327-6dupT
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 4790
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9491
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15697
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 876
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1218
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2084
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2755
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 16295
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1663
bin: 5.25e1
variant carriers: 3

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

GenotypeDepth
all individuals: 1499
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1343
bin: 6.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4354
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14545
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 23170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.555852903148209e-4
allele num: 66514
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.134489e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.998e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

FS
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

QD
type: SiteQuality
SIO_000300: 8.43e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000150275
ensembl protein: ENSP00000363067
ensembl transcript: ENST00000373956
gene symbol: PCDH15
hgvsc: ENST00000373956.3:c.92-52267delT
variant of: http://identifiers.org/hgnc/14674

GenotypeDepth
all individuals: 9491
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4790
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1218
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1663
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1343
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15697
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 985
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 876
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16295
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2084
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1499
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2755
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14545
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7364
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-1

QD
type: SiteQuality
SIO_000300: 8.43e0

DP
type: SiteQuality
SIO_000300: 2.134489e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.998e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 6.46e-1

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2020
bin: 4.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 122
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1208
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2676
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15905
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4736
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9506
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16243
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1324
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1465
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1621
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4383
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3459
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14540
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818843215714805e-4
allele num: 16494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.759e0

QD
type: SiteQuality
SIO_000300: 1.501e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 2.126029e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.176e0

GenotypeDepth
all individuals: 327
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 126
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4733
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2672
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 634
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16171
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2023
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1622
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15897
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9507
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 869
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1207
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1323
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3455
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23367
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14535
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.125094e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.017e0

MQ
type: SiteQuality
SIO_000300: 6.012e1

QD
type: SiteQuality
SIO_000300: 1.538e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9520
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 870
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15716
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2020
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1623
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1324
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15403
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1207
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 986
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4745
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2676
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1466
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3448
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7271
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22204
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14535
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006976184748617e-5
allele num: 66512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 3.357e0

DP
type: SiteQuality
SIO_000300: 2.117091e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

GenotypeDepth
all individuals: 181
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15729
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15399
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1210
bin: 6.75e1
variant carriers: 6

GenotypeDepth
all individuals: 1328
bin: 6.25e1
variant carriers: 6

GenotypeDepth
all individuals: 486
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 995
bin: 9.75e1
variant carriers: 11

GenotypeDepth
all individuals: 1629
bin: 5.25e1
variant carriers: 5

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 9494
bin: 3.25e1
variant carriers: 6

GenotypeDepth
all individuals: 1469
bin: 5.75e1
variant carriers: 6

GenotypeDepth
all individuals: 824
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 868
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 4738
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 2022
bin: 4.75e1
variant carriers: 10

GenotypeDepth
all individuals: 638
bin: 7.75e1
variant carriers: 6

GenotypeDepth
all individuals: 2666
bin: 4.25e1
variant carriers: 6

GenotypeDepth
all individuals: 309
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14586
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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East Asian
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allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

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

Latino
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allele frequency: 2.610057421263268e-4
allele num: 11494
num of homozygotes: 0

African
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allele count: 71
allele frequency: 6.863882443928848e-3
allele num: 10344
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European (Non-Finnish)
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allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

VQSLOD
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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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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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

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 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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Latino
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South Asian
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East Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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SIO_000300: -6.4e-2

QD
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SIO_000300: 1.382e1

MQ
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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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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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
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

Other
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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

South Asian
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allele frequency: 1.213739531496541e-4
allele num: 16478
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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FS
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SIO_000300: 1.0605e1

InbreedingCoeff
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DP
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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QD
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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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GenotypeDepth
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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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allele num: 10320
num of homozygotes: 0

European (Finnish)
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Latino
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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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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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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Latino
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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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South Asian
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East Asian
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FS
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MQ
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

FS
type: SiteQuality
SIO_000300: 3.31e0

DP
type: SiteQuality
SIO_000300: 2.077434e6

QD
type: SiteQuality
SIO_000300: 1.184e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1