3-195478011-G-GCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478011
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478013
    reference: chr 3
allele count: 1
allele frequency: 6.050338818973863e-5
allele num: 16528
alternate allele: GCT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-29_*275-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-29_*2053-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-29_*2341-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-29_*2280-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-29_*2369-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-29_1315-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-29_*2448-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-29_*2087-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-29_2940-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-29_*2001-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-29_1084-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-29_*2280-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-29_193-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-29_*2087-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-29_*2209-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-29_15492-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-29_2787-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-29_*2369-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-29_15648-28insAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-29_*2087-28insAG
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

3-195478012-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478012
    reference: chr 3
allele count: 24394
allele frequency: 8.093026341981289e-1
allele num: 30142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-29C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-29C>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 9967
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-195478012-G-GGGGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478018
    reference: chr 3
allele count: 1
allele frequency: 3.317629885210006e-5
allele num: 30142
alternate allele: GGGGGGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-30_2787-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-30_1084-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-30_15492-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-30_15648-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-30_*2280-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-30_*2448-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-30_*2087-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-30_*2087-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-30_2940-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-30_*2341-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-30_*2053-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-30_1315-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-30_*2209-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-30_*2369-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-30_*2280-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-30_*2001-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-30_193-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-30_*2369-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-30_*2087-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-30_*275-29insGCCCCC
  variant of: http://identifiers.org/hgnc/7514
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: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-195478013-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478013
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478012
    reference: chr 3
allele count: 1
allele frequency: 1.041666666666667e-4
allele num: 9600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-31delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-31delC
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TG
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

3-195478018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478018
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478018
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 16144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-35C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-35C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-195478018-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478018
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478018
    reference: chr 3
allele count: 2
allele frequency: 1.238850346878097e-4
allele num: 16144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-35C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-195478019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478019
    reference: chr 3
allele count: 2
allele frequency: 1.257545271629779e-4
allele num: 15904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-36C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-36C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-195478019-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478017
    reference: chr 3
allele count: 8
allele frequency: 5.030181086519115e-4
allele num: 15904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-38_*2280-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-38_1315-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-38_*2001-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-38_*275-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-38_*2369-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-38_2787-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-38_15492-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-38_*2448-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-38_*2087-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-38_*2087-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-38_2940-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-38_*2280-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-38_*2053-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-38_*2369-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-38_193-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-38_*2087-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-38_*2341-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-38_15648-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-38_*2209-37delAG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-38_1084-37delAG
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: GCT
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-195478021-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478020
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 8726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-39delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-39delC
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: TG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

3-195478022-GGGGGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478017
    reference: chr 3
allele count: 5
allele frequency: 3.135189365437672e-4
allele num: 15948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-44_*2087-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-44_*2001-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-44_*2087-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-44_1315-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-44_2940-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-44_*2280-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-44_193-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-44_*2280-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-44_*2369-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-44_*2087-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-44_*2448-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-44_*2369-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-44_15648-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-44_*2209-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-44_15492-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-44_*2053-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-44_*2341-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-44_1084-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-44_2787-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-44_*275-40delACCCC
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: GGGGGT
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-195478023-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478023
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478023
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 16984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-40C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-40C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-195478024-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478024
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478024
    reference: chr 3
allele count: 7
allele frequency: 4.091174751607247e-4
allele num: 17110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-41C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-41C>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 2
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

3-195478024-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478024
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478024
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 17110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-41C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-41C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

3-195478025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478025
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478025
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 17248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-42C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-42C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-195478025-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478025
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478025
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 17248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-42C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-42C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-195478026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478026
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478026
    reference: chr 3
allele count: 2
allele frequency: 1.151410477835348e-4
allele num: 17370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-43C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-43C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-195478027-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478027
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478027
    reference: chr 3
allele count: 25
allele frequency: 2.466942964278666e-3
allele num: 10134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-44A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-44A>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-195478028-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478028
    reference: chr 3
allele count: 1
allele frequency: 5.580357142857143e-5
allele num: 17920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-45C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-45C>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

3-195478028-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478028
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 17920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-45C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-45C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-195478030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478030
    reference: chr 3
allele count: 3
allele frequency: 1.598976654940838e-4
allele num: 18762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-47C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-47C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

3-195478030-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478030
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 18762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2001-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.193-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2087-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2448-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2280-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2341-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15648-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2087-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2787-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2087-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2053-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1084-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2280-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2940-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15492-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*275-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2369-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2209-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1315-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2369-47C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

3-195478033-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478033
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478033
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 19540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2368+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1314+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15491+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2939+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15647+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1083+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2052+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2208+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2086+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.192+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2279+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2000+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2279+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2786+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2340+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2447+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2086+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2368+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2086+45T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*274+45T>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-195478042-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478042
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478042
    reference: chr 3
allele count: 1
allele frequency: 4.511006856730422e-5
allele num: 22168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2447+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15647+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2000+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*274+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2279+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15491+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2086+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1314+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2368+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2939+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2279+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2086+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.192+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2086+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2786+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2052+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2208+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2368+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1083+36T>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2340+36T>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-195478043-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478043
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478043
    reference: chr 3
allele count: 1
allele frequency: 4.466678577809541e-5
allele num: 22388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2052+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2086+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2208+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2279+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2368+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.192+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2086+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*274+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2939+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15491+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1314+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15647+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2447+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2368+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2086+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2000+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2340+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2279+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2786+35C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1083+35C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

3-195478074-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478074
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478074
    reference: chr 3
allele count: 3
allele frequency: 6.4231576242881e-5
allele num: 46706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2447+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2052+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.192+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2279+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15647+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*274+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2086+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1083+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*2000+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2368+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2086+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2208+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15491+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2279+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2086+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2786+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1314+4A>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2939+4A>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.15647+4A>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-195478081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478081
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478081
    reference: chr 3
allele count: 4
allele frequency: 7.418122473202032e-5
allele num: 53922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2049G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15644G>A
  hgvsp: ENSP00000417498.3:p.Arg5215Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2276G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2205G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1080G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2083G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2083G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2783G>A
  hgvsp: ENSP00000338109.4:p.Arg928Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2936G>A
  hgvsp: ENSP00000304207.6:p.Arg979Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15488G>A
  hgvsp: ENSP00000420243.1:p.Arg5163Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2365G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*271G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2337G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2083G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.189G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2365G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1997G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2444G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2276G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg5215Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-195478082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478082
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478082
    reference: chr 3
allele count: 66
allele frequency: 1.182371909709781e-3
allele num: 55820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2082C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15643C>T
  hgvsp: ENSP00000417498.3:p.Arg5215Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1310C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1996C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15487C>T
  hgvsp: ENSP00000420243.1:p.Arg5163Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2082C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2364C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2275C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1079C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2782C>T
  hgvsp: ENSP00000338109.4:p.Arg928Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*270C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2275C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2082C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2204C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2364C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2935C>T
  hgvsp: ENSP00000304207.6:p.Arg979Ter
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2443C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2336C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2048C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg5215Ter
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS

3-195478088-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478088
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478088
    reference: chr 3
allele count: 1
allele frequency: 1.627922120205769e-5
allele num: 61428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2198G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*264G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1073G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2076G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.182G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2042G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2269G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15637G>C
  hgvsp: ENSP00000417498.3:p.Val5213Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2776G>C
  hgvsp: ENSP00000338109.4:p.Val926Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2358G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2358G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1990G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15481G>C
  hgvsp: ENSP00000420243.1:p.Val5161Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2269G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2437G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2076G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2929G>C
  hgvsp: ENSP00000304207.6:p.Val977Leu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2076G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1304G>C
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val5213Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-195478099-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478099
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478099
    reference: chr 3
allele count: 9
allele frequency: 1.360461952414064e-4
allele num: 66154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.171G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2347G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1062G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1979G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2319G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2918G>A
  hgvsp: ENSP00000304207.6:p.Arg973His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2426G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15626G>A
  hgvsp: ENSP00000417498.3:p.Arg5209His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15470G>A
  hgvsp: ENSP00000420243.1:p.Arg5157His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2065G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2258G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1293G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2258G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2065G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*253G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2031G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2347G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2765G>A
  hgvsp: ENSP00000338109.4:p.Arg922His
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2187G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg5209His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-195478100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478100
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478100
    reference: chr 3
allele count: 6
allele frequency: 8.947745168217609e-5
allele num: 67056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15469C>T
  hgvsp: ENSP00000420243.1:p.Arg5157Cys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2186C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2346C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2030C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15625C>T
  hgvsp: ENSP00000417498.3:p.Arg5209Cys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2318C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2425C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2257C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2064C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2764C>T
  hgvsp: ENSP00000338109.4:p.Arg922Cys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2346C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2064C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1061C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2917C>T
  hgvsp: ENSP00000304207.6:p.Arg973Cys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1292C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2257C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*252C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1978C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2064C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg5209Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

3-195478107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478107
    reference: chr 3
allele count: 17
allele frequency: 2.489310607391788e-4
allele num: 68292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2250C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2757C>T
  hgvsp: ENST00000349607.4:c.2757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1285C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15462C>T
  hgvsp: ENST00000475231.1:c.15462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2179C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2057C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2057C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2910C>T
  hgvsp: ENST00000346145.4:c.2910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1054C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2418C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2057C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15618C>T
  hgvsp: ENST00000463781.3:c.15618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2339C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2023C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2250C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.163C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*245C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2339C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2311C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala5206Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

3-195478111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478111
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478111
    reference: chr 3
allele count: 15
allele frequency: 2.179345615156622e-4
allele num: 68828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2906G>A
  hgvsp: ENSP00000304207.6:p.Arg969Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15614G>A
  hgvsp: ENSP00000417498.3:p.Arg5205Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2175G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2335G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1050G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2019G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2414G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.159G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*241G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2335G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15458G>A
  hgvsp: ENSP00000420243.1:p.Arg5153Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2246G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2246G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2053G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2753G>A
  hgvsp: ENSP00000338109.4:p.Arg918Gln
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2307G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2053G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1281G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1967G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg5205Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

3-195478112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478112
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478112
    reference: chr 3
allele count: 4
allele frequency: 5.822246805042066e-5
allele num: 68702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2413C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2334C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15457C>T
  hgvsp: ENSP00000420243.1:p.Arg5153Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2174C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2018C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2052C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15613C>T
  hgvsp: ENSP00000417498.3:p.Arg5205Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2905C>T
  hgvsp: ENSP00000304207.6:p.Arg969Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2306C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2245C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2245C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1280C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1049C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2334C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*240C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.158C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2752C>T
  hgvsp: ENSP00000338109.4:p.Arg918Trp
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2052C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1966C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg5205Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

3-195478112-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478112
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478113
    reference: chr 3
allele count: 1
allele frequency: 1.455561701260516e-5
allele num: 68702
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2051dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*239dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1279dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2244dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15456dupG
  hgvsp: ENSP00000420243.1:p.Arg5153AlafsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15612dupG
  hgvsp: ENSP00000417498.3:p.Arg5205AlafsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1048dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2412dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2333dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2904dupG
  hgvsp: ENSP00000304207.6:p.Arg969AlafsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2244dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2051dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1965dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2305dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2173dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2333dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2751dupG
  hgvsp: ENSP00000338109.4:p.Arg918AlafsTer42
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2051dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.157dupG
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg5205AlafsTer42
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-195478117-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478117
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478117
    reference: chr 3
allele count: 1
allele frequency: 1.445671659052796e-5
allele num: 69172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2329A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2047A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1275A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2240A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15608A>G
  hgvsp: ENSP00000417498.3:p.Asp5203Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2047A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15452A>G
  hgvsp: ENSP00000420243.1:p.Asp5151Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2240A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2329A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2900A>G
  hgvsp: ENSP00000304207.6:p.Asp967Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2169A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*235A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2013A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2408A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1961A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1044A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2747A>G
  hgvsp: ENSP00000338109.4:p.Asp916Gly
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2301A>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2047A>G
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp5203Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

3-195478126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478126
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478126
    reference: chr 3
allele count: 1
allele frequency: 1.467997651203758e-5
allele num: 68120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2038G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1266G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2891G>A
  hgvsp: ENSP00000304207.6:p.Gly964Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2292G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*226G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2399G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.144G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15443G>A
  hgvsp: ENSP00000420243.1:p.Gly5148Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1952G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2160G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1035G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2320G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2038G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2320G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2231G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15599G>A
  hgvsp: ENSP00000417498.3:p.Gly5200Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2738G>A
  hgvsp: ENSP00000338109.4:p.Gly913Glu
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2231G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2038G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly5200Glu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

3-195478127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478127
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478127
    reference: chr 3
allele count: 2
allele frequency: 2.94256120527307e-5
allele num: 67968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2737G>A
  hgvsp: ENSP00000338109.4:p.Gly913Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2159G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2037G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2398G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2230G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2230G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2890G>A
  hgvsp: ENSP00000304207.6:p.Gly964Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2319G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1265G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2037G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1034G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15442G>A
  hgvsp: ENSP00000420243.1:p.Gly5148Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2319G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15598G>A
  hgvsp: ENSP00000417498.3:p.Gly5200Arg
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*2003G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.143G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2037G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*225G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1951G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly5200Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

3-195478132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478132
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478132
    reference: chr 3
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2732G>A
  hgvsp: ENSP00000338109.4:p.Arg911Lys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1946G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.138G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2225G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2314G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15593G>A
  hgvsp: ENSP00000417498.3:p.Arg5198Lys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2225G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15437G>A
  hgvsp: ENSP00000420243.1:p.Arg5146Lys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1029G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2032G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1260G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2032G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2314G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2032G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2154G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2885G>A
  hgvsp: ENSP00000304207.6:p.Arg962Lys
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1998G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2286G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg5198Lys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-195478138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478138
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478138
    reference: chr 3
allele count: 1
allele frequency: 1.529239050648397e-5
allele num: 65392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2726C>T
  hgvsp: ENSP00000338109.4:p.Ala909Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2026C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2219C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2387C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15587C>T
  hgvsp: ENSP00000417498.3:p.Ala5196Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1254C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2879C>T
  hgvsp: ENSP00000304207.6:p.Ala960Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2148C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2280C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15431C>T
  hgvsp: ENSP00000420243.1:p.Ala5144Val
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.132C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2308C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2219C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2308C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1023C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2026C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1940C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1992C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala5196Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

3-195478147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478147
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478147
    reference: chr 3
allele count: 1
allele frequency: 1.599948801638348e-5
allele num: 62502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1245C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-5C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-5C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.15583-5C>T
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-195478164-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478164
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 54832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1228C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-22C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-22C>G
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

3-195478168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478168
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478168
    reference: chr 3
allele count: 14
allele frequency: 2.589619325959084e-4
allele num: 54062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1224C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-26C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-26C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-195478175-TGAGGCCCCATCCGGGGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478175
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478157
    reference: chr 3
allele count: 1
allele frequency: 1.950534446438324e-5
allele num: 51268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13989
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: TGAGGCCCCATCCGGGGGG
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

3-195478181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478181
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478181
    reference: chr 3
allele count: 1
allele frequency: 2.061260667023952e-5
allele num: 48514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1211G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-39G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-39G>C
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

3-195478185-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478186
    reference: chr 3
allele count: 22
allele frequency: 4.722854321411704e-4
allele num: 46582
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1206dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-44dupG
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-44dupG
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-195478187-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478187
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478188
    reference: chr 3
allele count: 21
allele frequency: 4.736557199566943e-4
allele num: 44336
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1204dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-46dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-46dupC
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-195478187-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478187
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478187
    reference: chr 3
allele count: 6
allele frequency: 1.353302057019127e-4
allele num: 44336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1205G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-45G>C
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-45G>C
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-195478187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478187
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478187
    reference: chr 3
allele count: 12
allele frequency: 2.706604114038253e-4
allele num: 44336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1205G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-45G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-195478187-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478187
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478186
    reference: chr 3
allele count: 4
allele frequency: 9.022013713460844e-5
allele num: 44336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1204delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-46delC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-46delC
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: CG
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-195478188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478188
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478188
    reference: chr 3
allele count: 8776
allele frequency: 1.960766790294473e-1
allele num: 44758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1204C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-46C>T
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-46C>T
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 804
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-195478188-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478188
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478188
    reference: chr 3
allele count: 5
allele frequency: 1.117118727378346e-4
allele num: 44758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1204C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-46C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-46C>G
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

3-195478188-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478188
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478188
    reference: chr 3
allele count: 2
allele frequency: 4.468474909513383e-5
allele num: 44758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1204C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-46C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-46C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-195478189-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478189
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 42692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1203C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-47C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-47C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-195478190-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478190
    reference: chr 3
allele count: 6
allele frequency: 1.37797988149373e-4
allele num: 43542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1202C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-48C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-48C>G
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-195478190-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478190
    reference: chr 3
allele count: 3
allele frequency: 6.889899407468652e-5
allele num: 43542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1202C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-48C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-48C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

3-195478194-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195478194
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195478193
    reference: chr 3
allele count: 1
allele frequency: 2.353051908325098e-5
allele num: 42498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2304-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15583-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1988-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2022-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.1197delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2276-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2022-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2022-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2875-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2722-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.128-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15427-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2383-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2304-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2144-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2215-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2215-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1019-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*210-53delT
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1936-53delT
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: GA
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-195479199-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195479199
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195479200
    reference: chr 3
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2275+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2874+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1018+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2021+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2303+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15426+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2721+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2382+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2303+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2214+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1987+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2143+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*209+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2021+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2214+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.192dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.127+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2021+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1935+44dupC
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15582+44dupC
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-195479199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195479199
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195479199
    reference: chr 3
allele count: 2
allele frequency: 1.653411815280832e-5
allele num: 120962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2021+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2214+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15582+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2021+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.127+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2382+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2143+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1987+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1935+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*209+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2303+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.193G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2214+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2874+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2721+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2275+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1018+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2303+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2021+45G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15426+45G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

3-195479200-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195479200
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195479200
    reference: chr 3
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2214+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2214+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15426+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2303+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2021+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2721+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1018+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2382+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2143+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2303+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2275+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1987+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.127+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2021+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.192C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2874+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1935+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15582+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*209+44C>G
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2021+44C>G
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-195479200-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195479200
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195479200
    reference: chr 3
allele count: 73
allele frequency: 6.036550070288596e-4
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2021+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.192C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2303+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2214+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419798
  ensembl transcript: ENST00000478156
  gene symbol: MUC4
  hgvsc: ENST00000478156.1:c.*209+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2874+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2214+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.127+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000464234
  gene symbol: MUC4
  hgvsc: ENST00000464234.1:n.1018+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15582+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1935+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000338109
  ensembl transcript: ENST00000349607
  gene symbol: MUC4
  hgvsc: ENST00000349607.4:c.2721+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2382+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420439
  ensembl transcript: ENST00000470451
  gene symbol: MUC4
  hgvsc: ENST00000470451.1:c.*1987+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2303+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2275+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417657
  ensembl transcript: ENST00000480843
  gene symbol: MUC4
  hgvsc: ENST00000480843.1:c.*2021+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2021+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2143+44C>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000420243
  ensembl transcript: ENST00000475231
  gene symbol: MUC4
  hgvsc: ENST00000475231.1:c.15426+44C>A
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

3-195479206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 195479206
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 195479206
    reference: chr 3
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000469992
  gene symbol: MUC4
  hgvsc: ENST00000469992.1:n.127+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000418306
  ensembl transcript: ENST00000477756
  gene symbol: MUC4
  hgvsc: ENST00000477756.1:c.*2021+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417498
  ensembl transcript: ENST00000463781
  gene symbol: MUC4
  hgvsc: ENST00000463781.3:c.15582+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417722
  ensembl transcript: ENST00000466475
  gene symbol: MUC4
  hgvsc: ENST00000466475.1:c.*2303+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000310528
  ensembl transcript: ENST00000308466
  gene symbol: MUC4
  hgvsc: ENST00000308466.8:c.*2214+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000419989
  ensembl transcript: ENST00000477086
  gene symbol: MUC4
  hgvsc: ENST00000477086.1:c.*2303+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000407750
  ensembl transcript: ENST00000415455
  gene symbol: MUC4
  hgvsc: ENST00000415455.1:c.*2214+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417757
  ensembl transcript: ENST00000479406
  gene symbol: MUC4
  hgvsc: ENST00000479406.1:c.*1935+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000389780
  ensembl transcript: ENST00000448861
  gene symbol: MUC4
  hgvsc: ENST00000448861.1:c.*2382+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000376208
  ensembl transcript: ENST00000392407
  gene symbol: MUC4
  hgvsc: ENST00000392407.2:c.*2143+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000304207
  ensembl transcript: ENST00000346145
  gene symbol: MUC4
  hgvsc: ENST00000346145.4:c.2874+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000345378
  ensembl transcript: ENST00000339251
  gene symbol: MUC4
  hgvsc: ENST00000339251.5:c.*2275+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145113
  ensembl protein: ENSP00000417397
  ensembl transcript: ENST00000462323
  gene symbol: MUC4
  hgvsc: ENST00000462323.1:c.*2021+38G>A
  variant of: http://identifiers.org/hgnc/7514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145113
  ensembl transcript: ENST00000467235
  gene symbol: MUC4
  hgvsc: ENST00000467235.1:n.186G>A
  variant of: http://identifiers.org/hgnc/7514
canonical: false
consequence: non coding transcript exon
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1182
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2281
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1166
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 768
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1048
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8642
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18970
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4228
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1240
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10218
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18777
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 446
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547508511296812e-4
allele num: 6462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.075e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.79e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 5.63845e5

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

GenotypeDepth
all individuals: 22707
bin: 7.5e0
variant carriers: 21010

GenotypeDepth
all individuals: 7604
bin: 1.25e1
variant carriers: 7319

GenotypeDepth
all individuals: 1800
bin: 1.75e1
variant carriers: 1706

GenotypeDepth
all individuals: 1125
bin: 2.25e1
variant carriers: 1020

GenotypeDepth
all individuals: 336
bin: 4.75e1
variant carriers: 316

GenotypeDepth
all individuals: 1001
bin: 3.75e1
variant carriers: 913

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 17

GenotypeDepth
all individuals: 1228
bin: 3.25e1
variant carriers: 1115

GenotypeDepth
all individuals: 41
bin: 7.25e1
variant carriers: 38

GenotypeDepth
all individuals: 7715
bin: 2.5e0
variant carriers: 6067

GenotypeDepth
all individuals: 1234
bin: 2.75e1
variant carriers: 1109

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 13

GenotypeDepth
all individuals: 620
bin: 4.25e1
variant carriers: 565

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 27

GenotypeDepth
all individuals: 130
bin: 5.75e1
variant carriers: 124

GenotypeDepth
all individuals: 63
bin: 6.75e1
variant carriers: 62

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 19

GenotypeDepth
all individuals: 88
bin: 6.25e1
variant carriers: 86

GenotypeDepth
all individuals: 217
bin: 5.25e1
variant carriers: 197

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 27

GenotypeQuality
all individuals: 503
bin: 6.75e1
variant carriers: 455

GenotypeQuality
all individuals: 686
bin: 6.25e1
variant carriers: 566

GenotypeQuality
all individuals: 3054
bin: 3.25e1
variant carriers: 3005

GenotypeQuality
all individuals: 4193
bin: 1.25e1
variant carriers: 4048

GenotypeQuality
all individuals: 836
bin: 4.25e1
variant carriers: 814

GenotypeQuality
all individuals: 3290
bin: 2.75e1
variant carriers: 3249

GenotypeQuality
all individuals: 3162
bin: 2.5e0
variant carriers: 997

GenotypeQuality
all individuals: 851
bin: 4.75e1
variant carriers: 815

GenotypeQuality
all individuals: 3455
bin: 7.5e0
variant carriers: 2245

GenotypeQuality
all individuals: 6183
bin: 2.25e1
variant carriers: 6113

GenotypeQuality
all individuals: 425
bin: 7.25e1
variant carriers: 393

GenotypeQuality
all individuals: 1507
bin: 3.75e1
variant carriers: 1469

GenotypeQuality
all individuals: 7648
bin: 1.75e1
variant carriers: 7580

GenotypeQuality
all individuals: 614
bin: 9.25e1
variant carriers: 600

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 581

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 517

GenotypeQuality
all individuals: 709
bin: 5.25e1
variant carriers: 675

GenotypeQuality
all individuals: 6681
bin: 9.75e1
variant carriers: 6625

GenotypeQuality
all individuals: 642
bin: 5.75e1
variant carriers: 622

GenotypeQuality
all individuals: 421
bin: 7.75e1
variant carriers: 381

African
type: Population
allele count: 1892
allele frequency: 9.79296066252588e-1
allele num: 1932
num of homozygotes: 926

South Asian
type: Population
allele count: 5514
allele frequency: 6.608341323106424e-1
allele num: 8344
num of homozygotes: 1857

East Asian
type: Population
allele count: 1478
allele frequency: 8.397727272727272e-1
allele num: 1760
num of homozygotes: 615

Latino
type: Population
allele count: 1226
allele frequency: 7.701005025125628e-1
allele num: 1592
num of homozygotes: 449

Other
type: Population
allele count: 215
allele frequency: 8.022388059701493e-1
allele num: 268
num of homozygotes: 83

European (Finnish)
type: Population
allele count: 506
allele frequency: 8.489932885906041e-1
allele num: 596
num of homozygotes: 211

European (Non-Finnish)
type: Population
allele count: 13563
allele frequency: 8.666453674121406e-1
allele num: 15650
num of homozygotes: 5826

DP
type: SiteQuality
SIO_000300: 5.31589e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 2.982e1

FS
type: SiteQuality
SIO_000300: 1.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.561e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1800
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7715
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 620
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1228
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22707
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1234
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1125
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1001
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7604
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3455
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1507
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7648
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6681
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 614
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.389776357827476e-5
allele num: 15650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.561e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 1.153e0

QD
type: SiteQuality
SIO_000300: 2.982e1

DP
type: SiteQuality
SIO_000300: 5.31589e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

GenotypeDepth
all individuals: 838
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
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bin: 5.75e1
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MQ
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East Asian
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African
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European (Non-Finnish)
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQ
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VQSLOD
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DP
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GenotypeQuality
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African
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MQ
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African
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MQ
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South Asian
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East Asian
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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QD
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FS
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MQ
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VQSLOD
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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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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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DP
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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QD
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DP
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MQ
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European (Non-Finnish)
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Latino
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African
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MQ
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VQSLOD
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MQRankSum
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DP
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South Asian
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East Asian
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FS
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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European (Non-Finnish)
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African
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MQ
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DP
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VQSLOD
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European (Finnish)
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East Asian
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African
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South Asian
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East Asian
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African
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MQ
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European (Finnish)
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African
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East Asian
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VQSLOD
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 865
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26195
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1448
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2759
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20375
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1405
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25138
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.035512510088781e-4
allele num: 2478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.591e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

FS
type: SiteQuality
SIO_000300: 2.473e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.01e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 7.14e0

DP
type: SiteQuality
SIO_000300: 5.36621e5

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000345378
ensembl transcript: ENST00000339251
gene symbol: MUC4
hgvsc: ENST00000339251.5:c.*2340+4A>C
variant of: http://identifiers.org/hgnc/7514

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000417722
ensembl transcript: ENST00000466475
gene symbol: MUC4
hgvsc: ENST00000466475.1:c.*2368+4A>C
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 684
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 506
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1597
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31977
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2085
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 867
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12791
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1156
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3075
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4961
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31688
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4885
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13570
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 6.581834137779728e-4
allele num: 4558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3742
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

DP
type: SiteQuality
SIO_000300: 8.14279e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.78e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000145113
ensembl transcript: ENST00000467235
gene symbol: MUC4
hgvsc: ENST00000467235.1:n.1311G>A
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3707
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 865
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2822
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 506
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1620
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2315
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16490
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29567
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1157
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 888
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29433
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4556
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 8.445945945945946e-4
allele num: 4736
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -6.107e-1

DP
type: SiteQuality
SIO_000300: 8.76756e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000145113
ensembl transcript: ENST00000469992
gene symbol: MUC4
hgvsc: ENST00000469992.1:n.188C>T
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 2773
bin: 1.25e1
variant carriers: 15

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1160
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 760
bin: 1.75e1
variant carriers: 17

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28957
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3457
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17284
bin: 2.25e1
variant carriers: 17

GenotypeDepth
all individuals: 2385
bin: 2.75e1
variant carriers: 7

GenotypeDepth
all individuals: 51
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 66
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 865
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 507
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1632
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 862
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28888
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1534
bin: 9.75e1
variant carriers: 65

GenotypeQuality
all individuals: 17705
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3446
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 6.75e1
variant carriers: 1

Other
type: Population
allele count: 1
allele frequency: 2.67379679144385e-3
allele num: 374
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 6.291946308724832e-4
allele num: 4768
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.029018316526034e-4
allele num: 9718
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.980891719745223e-4
allele num: 5024
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.948558067030398e-4
allele num: 5132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.582278481012658e-3
allele num: 1264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 1.895734597156398e-3
allele num: 29540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 8.91921e5

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

FS
type: SiteQuality
SIO_000300: 1.395e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000345378
ensembl transcript: ENST00000339251
gene symbol: MUC4
hgvsc: ENST00000339251.5:c.*2330G>C
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 865
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26824
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 780
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1659
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19741
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2906
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2677
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1161
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2686
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 508
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 801
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5290
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.74e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.054e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.367e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.096e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e0

DP
type: SiteQuality
SIO_000300: 9.36416e5

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000417657
ensembl transcript: ENST00000480843
gene symbol: MUC4
hgvsc: ENST00000480843.1:c.*2065G>A
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 20683
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 865
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3326
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2601
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24495
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 1740
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1271
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3173
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1483
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 20662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 803
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.592863969417012e-4
allele num: 6278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.592215635834918e-5
allele num: 35764
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.274261603375527e-4
allele num: 5688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.872462657985446e-4
allele num: 10444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

DP
type: SiteQuality
SIO_000300: 9.74846e5

FS
type: SiteQuality
SIO_000300: 3.322e0

QD
type: SiteQuality
SIO_000300: 1.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000145113
ensembl transcript: ENST00000469992
gene symbol: MUC4
hgvsc: ENST00000469992.1:n.170C>T
variant of: http://identifiers.org/hgnc/7514

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

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24219
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21001
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1722
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3341
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3227
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2550
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1167
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 864
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1233
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 577
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21658
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 462
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 353
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.509338328466751e-5
allele num: 36302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.568873548791967e-4
allele num: 6374
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.698369565217391e-4
allele num: 5888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.900057001710051e-4
allele num: 10526
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 9.80397e5

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000417757
ensembl transcript: ENST00000479406
gene symbol: MUC4
hgvsc: ENST00000479406.1:c.*1971C>T
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 4012
bin: 1.25e1
variant carriers: 6

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1373
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3404
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1721
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23718
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 864
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20530
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2539
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1492
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 809
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 4.306168586500161e-4
allele num: 37156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.47645125958379e-4
allele num: 1826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

FS
type: SiteQuality
SIO_000300: 1.159e0

DP
type: SiteQuality
SIO_000300: 9.83189e5

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000417657
ensembl transcript: ENST00000480843
gene symbol: MUC4
hgvsc: ENST00000480843.1:c.*2053G>A
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 1364
bin: 1.75e1
variant carriers: 4

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

GenotypeDepth
all individuals: 3559
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20192
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 65
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2556
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 23377
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 861
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1738
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4510
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 21028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2586
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 790
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.660026560424967e-4
allele num: 6024
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 1.222493887530562e-3
allele num: 10634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.668944165688054e-5
allele num: 37468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 9.85229e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000417397
ensembl transcript: ENST00000462323
gene symbol: MUC4
hgvsc: ENST00000462323.1:c.*2052C>T
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 1464
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23234
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4858
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1171
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3621
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19725
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2625
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1765
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 864
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 848
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.108991825613079e-4
allele num: 5872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.40910801656003e-5
allele num: 10628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.879e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.251e0

DP
type: SiteQuality
SIO_000300: 9.82817e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 8.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000420439
ensembl transcript: ENST00000470451
gene symbol: MUC4
hgvsc: ENST00000470451.1:c.*2017dupG
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 1464
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4858
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1171
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23234
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2625
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3621
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19725
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1765
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 864
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.672796279467579e-5
allele num: 37414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.879e0

DP
type: SiteQuality
SIO_000300: 9.82817e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.251e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 8.07e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000145113
ensembl transcript: ENST00000469992
gene symbol: MUC4
hgvsc: ENST00000469992.1:n.153A>G
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1159
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1311
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 864
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2662
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5381
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3697
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19312
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1696
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23248
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25739
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.654209576388152e-5
allele num: 37676
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 5.317e0

QD
type: SiteQuality
SIO_000300: 1.244e1

DP
type: SiteQuality
SIO_000300: 9.78002e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000420439
ensembl transcript: ENST00000470451
gene symbol: MUC4
hgvsc: ENST00000470451.1:c.*2004G>A
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 7125
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1695
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16919
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23292
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3015
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1504
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3731
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26846
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 723
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.695708432175976e-5
allele num: 37096
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

DP
type: SiteQuality
SIO_000300: 9.54524e5

FS
type: SiteQuality
SIO_000300: 4.741e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.326e1

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000345378
ensembl transcript: ENST00000339251
gene symbol: MUC4
hgvsc: ENST00000339251.5:c.*2291G>A
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3720
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1697
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23339
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1162
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 864
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7325
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3073
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16638
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1489
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27018
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3099
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.398984990821726e-5
allele num: 37044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.50959e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

FS
type: SiteQuality
SIO_000300: 2.065e0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000389780
ensembl transcript: ENST00000448861
gene symbol: MUC4
hgvsc: ENST00000448861.1:c.*2393G>A
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 863
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3462
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1685
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1590
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14582
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23584
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8784
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1163
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3584
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28002
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.775568181818182e-4
allele num: 5632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 5.05e0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 9.25401e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.859e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000417397
ensembl transcript: ENST00000462323
gene symbol: MUC4
hgvsc: ENST00000462323.1:c.*2026C>T
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10333
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3927
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1644
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23728
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12429
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3501
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1679
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 188
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.716443529007896e-4
allele num: 5826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.984e0

VQSLOD
type: SiteQuality
SIO_000300: -1.833e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

DP
type: SiteQuality
SIO_000300: 8.99162e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: -9.61e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.681e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000304207
ensembl transcript: ENST00000346145
gene symbol: MUC4
hgvsc: ENST00000346145.4:c.2875-5C>T
variant of: http://identifiers.org/hgnc/7514

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000145113
ensembl protein: ENSP00000310528
ensembl transcript: ENST00000308466
gene symbol: MUC4
hgvsc: ENST00000308466.8:c.*2215-5C>T
variant of: http://identifiers.org/hgnc/7514

GenotypeDepth
all individuals: 1652
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1159
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23594
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5361
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8044
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13608
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2024
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 864
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2873
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9442
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1692
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5539
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30012
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.950722927117144e-5
allele num: 33890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.35837e5

VQSLOD
type: SiteQuality
SIO_000300: -2.524e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

QD
type: SiteQuality
SIO_000300: 7.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

GenotypeDepth
all individuals: 867
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23471
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 2833
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8562
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15010
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1589
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1166
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3493
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8984
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1346
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

DP
type: SiteQuality
SIO_000300: 7.46701e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.954e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 7.69e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeDepth
all individuals: 2724
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1562
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8882
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 37
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23699
bin: 7.5e0
variant carriers: 9

GenotypeDepth
all individuals: 14807
bin: 1.25e1
variant carriers: 12

GenotypeDepth
all individuals: 3352
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 865
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1835
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25744
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 537
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9356
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 356
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4270
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3369
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1489
bin: 9.75e1
variant carriers: 13

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 3.808073115003808e-4
allele num: 28886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 2.479338842975207e-3
allele num: 1210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.478e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

FS
type: SiteQuality
SIO_000300: 1.0796e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 1.011e1

DP
type: SiteQuality
SIO_000300: 7.3888e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

GenotypeDepth
all individuals: 1164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2795
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2838
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9743
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1700
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10546
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3920
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.055074910318633e-4
allele num: 9478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.528e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

DP
type: SiteQuality
SIO_000300: 7.17769e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeDepth
all individuals: 65
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12834
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2894
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 865
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25177
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 10022
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 32
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 1604
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variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 50
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variant carriers: 0

GenotypeDepth
all individuals: 2567
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1522
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variant carriers: 0

GenotypeQuality
all individuals: 690
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variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 965
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20830
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11116
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3173
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4864
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variant carriers: 0

GenotypeQuality
all individuals: 680
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variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.071811361200429e-4
allele num: 9330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4606
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.02795e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 3.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

QD
type: SiteQuality
SIO_000300: 1.289e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.196e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeDepth
all individuals: 32
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1491
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
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variant carriers: 0

GenotypeDepth
all individuals: 512
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variant carriers: 1

GenotypeDepth
all individuals: 10039
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variant carriers: 0

GenotypeDepth
all individuals: 1554
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2828
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 286
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variant carriers: 0

GenotypeDepth
all individuals: 2584
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variant carriers: 1

GenotypeDepth
all individuals: 50
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variant carriers: 0

GenotypeDepth
all individuals: 863
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variant carriers: 5

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 1153
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variant carriers: 4

GenotypeDepth
all individuals: 25895
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variant carriers: 2

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 12138
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variant carriers: 2

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeDepth
all individuals: 21
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variant carriers: 0

GenotypeDepth
all individuals: 105
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variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
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variant carriers: 0

GenotypeQuality
all individuals: 18369
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variant carriers: 0

GenotypeQuality
all individuals: 5524
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variant carriers: 0

GenotypeQuality
all individuals: 688
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variant carriers: 0

GenotypeQuality
all individuals: 2932
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variant carriers: 0

GenotypeQuality
all individuals: 1247
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variant carriers: 1

GenotypeQuality
all individuals: 222
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variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6535
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variant carriers: 0

GenotypeQuality
all individuals: 11161
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variant carriers: 0

GenotypeQuality
all individuals: 1396
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3192
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variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 681
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variant carriers: 1

GenotypeQuality
all individuals: 324
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variant carriers: 0

GenotypeQuality
all individuals: 354
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variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 2.1654395842356e-3
allele num: 9236
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.079634464751958e-5
allele num: 24512
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.012048192771084e-3
allele num: 332
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

QD
type: SiteQuality
SIO_000300: 1.547e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.07e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

DP
type: SiteQuality
SIO_000300: 6.95386e5

GenotypeDepth
all individuals: 26219
bin: 7.5e0
variant carriers: 10

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeDepth
all individuals: 291
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variant carriers: 0

GenotypeDepth
all individuals: 32
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variant carriers: 0

GenotypeDepth
all individuals: 2817
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 517
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 870
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 106
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variant carriers: 0

GenotypeDepth
all individuals: 10013
bin: 2.5e0
variant carriers: 2

GenotypeDepth
all individuals: 1456
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variant carriers: 4

GenotypeDepth
all individuals: 2610
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 21
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variant carriers: 0

GenotypeDepth
all individuals: 64
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variant carriers: 0

GenotypeDepth
all individuals: 50
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variant carriers: 1

GenotypeDepth
all individuals: 11800
bin: 1.25e1
variant carriers: 7

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 1169
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variant carriers: 2

GenotypeDepth
all individuals: 1524
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variant carriers: 2

GenotypeDepth
all individuals: 169
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 670
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variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1502
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 3088
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16544
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
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variant carriers: 0

GenotypeQuality
all individuals: 11074
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2291
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5680
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variant carriers: 0

GenotypeQuality
all individuals: 7437
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1208
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 519
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variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 509
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 273
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 13
allele frequency: 1.424501424501425e-3
allele num: 9126
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.331002331002331e-4
allele num: 4290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 3.019584160124234e-4
allele num: 23182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3296
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.909999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 6.93692e5

QD
type: SiteQuality
SIO_000300: 6.81e0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

GenotypeDepth
all individuals: 50
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variant carriers: 0

GenotypeDepth
all individuals: 11800
bin: 1.25e1
variant carriers: 2

GenotypeDepth
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GenotypeDepth
all individuals: 291
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GenotypeDepth
all individuals: 10013
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 21
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GenotypeDepth
all individuals: 12
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GenotypeDepth
all individuals: 2817
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GenotypeDepth
all individuals: 870
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variant carriers: 1

GenotypeDepth
all individuals: 2610
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GenotypeDepth
all individuals: 169
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GenotypeDepth
all individuals: 13
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GenotypeDepth
all individuals: 1524
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variant carriers: 1

GenotypeDepth
all individuals: 32
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variant carriers: 0

GenotypeDepth
all individuals: 64
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variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2728
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7437
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5680
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16544
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11074
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1381
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 6.574621959237344e-4
allele num: 9126
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.93692e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.909999999999999e-2

MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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num of homozygotes: 0

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

Other
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VQSLOD
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 6.93692e5

ClippingRankSum
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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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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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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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FS
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QD
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VQSLOD
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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SIO_000300: 3.77e-1

BaseQRankSum
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SIO_000300: 2.4e-2

InbreedingCoeff
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SIO_000300: 9.909999999999999e-2

GenotypeDepth
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variant carriers: 611

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 213

East Asian
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 23582
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South Asian
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allele frequency: 1.743756786102063e-1
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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African
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Other
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South Asian
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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SIO_000300: 1.35e-1

QD
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 frequency: 0.0e0
allele num: 22214
num of homozygotes: 0

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

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

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

African
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South Asian
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MQRankSum
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QD
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MQ
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VQSLOD
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 6

Other
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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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.407616361071932e-5
allele num: 22688
num of homozygotes: 0

African
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allele count: 2
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allele num: 4274
num of homozygotes: 0

South Asian
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allele num: 9114
num of homozygotes: 0

East Asian
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Latino
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allele frequency: 6.426735218508997e-4
allele num: 3112
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 3.58e-1

MQ
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SIO_000300: 6.0e1

DP
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.62e-2

ClippingRankSum
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QD
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SIO_000300: 1.273e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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allele frequency: 8.671522719389525e-5
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Other
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 6.67e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.372e0

InbreedingCoeff
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SIO_000300: 1.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

DP
type: SiteQuality
SIO_000300: 3.024776e6

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 1

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10342
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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66528
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

East Asian
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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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South Asian
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InbreedingCoeff
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SIO_000300: 1.0e-2

VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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SIO_000300: -2.95e-1

FS
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SIO_000300: 5.372e0

BaseQRankSum
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SIO_000300: -2.149e0

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

DP
type: SiteQuality
SIO_000300: 3.024776e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 3.026563e6

FS
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SIO_000300: 0.0e0

MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: 2.7e-3

ClippingRankSum
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QD
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SIO_000300: 1.344e1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 4.26e-1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 9

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 73

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

Latino
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allele count: 26
allele frequency: 2.255769564462953e-3
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 47
allele frequency: 7.06681902928971e-4
allele num: 66508
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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QD
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SIO_000300: 1.344e1

ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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