{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3266643802", "communityStandardTitle": [ "NM_000038.6(APC):c.3982_6093dup (p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer)" ], "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 112841687, "referenceAllele": "", "start": 112841687 } ], "hgvs": [ "NC_000005.10:g.112839576_112841687dup", "CM000667.2:g.112839576_112841687dup" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 112177384, "referenceAllele": "", "start": 112177384 } ], "hgvs": [ "NC_000005.9:g.112175273_112177384dup", "CM000667.1:g.112175273_112177384dup" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 112205283, "referenceAllele": "", "start": 112205283 } ], "hgvs": [ "NC_000005.8:g.112203172_112205283dup" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 154167, "referenceAllele": "", "start": 154167 } ], "hgvs": [ "NG_008481.4:g.152056_154167dup", "LRG_130:g.152056_154167dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6203, "referenceAllele": "", "start": 6203 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.4036_6147dup" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Ser2049_Ile2050insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6473, "referenceAllele": "", "start": 6473 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*3988_*6099dup" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*3988_*6099dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6235, "referenceAllele": "", "start": 6235 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.3928_6039dup" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Ser2013_Ile2014insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6243, "referenceAllele": "", "start": 6243 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.3982_6093dup" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6444, "referenceAllele": "", "start": 6444 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.3982_6093dup" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6152, "referenceAllele": "", "start": 6152 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.3982_6093dup" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.3982_6093dup" }, "RefSeq": { "hgvs": "NM_000038.6:c.3982_6093dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" } } } }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6149, "referenceAllele": "", "start": 6149 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.3982_6093dup" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6250, "referenceAllele": "", "start": 6250 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.3982_6093dup" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6338, "referenceAllele": "", "start": 6338 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*3304_*5415dup" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*3304_*5415dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 230, "endIntronDirection": "+", "endIntronOffset": 12715, "referenceAllele": "", "start": 230, "startIntronDirection": "+", "startIntronOffset": 12715 } ], "hgvs": [ "ENST00000520401.1:c.230+10604_230+12715dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6178, "referenceAllele": "", "start": 6178 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.3982_6093dup" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6286, "referenceAllele": "", "start": 6286 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.3982_6093dup" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6252, "referenceAllele": "", "start": 6252 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.3928_6039dup" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ser2013_Ile2014insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6489, "referenceAllele": "", "start": 6489 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.3982_6093dup" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6232, "referenceAllele": "", "start": 6232 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.4036_6147dup" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ser2049_Ile2050insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6336, "referenceAllele": "", "start": 6336 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.4012_6123dup" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ser2041_Ile2042insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6133, "referenceAllele": "", "start": 6133 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.3907_6018dup" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser2006_Ile2007insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6094, "referenceAllele": "", "start": 6094 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.3898_6009dup" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser2003_Ile2004insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6079, "referenceAllele": "", "start": 6079 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.3859_5970dup" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser1990_Ile1991insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6025, "referenceAllele": "", "start": 6025 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.3805_5916dup" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ser1972_Ile1973insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6033, "referenceAllele": "", "start": 6033 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.3709_5820dup" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser1940_Ile1941insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 5875, "referenceAllele": "", "start": 5875 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.3679_5790dup" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser1930_Ile1931insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 5830, "referenceAllele": "", "start": 5830 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.3604_5715dup" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser1905_Ile1906insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 5722, "referenceAllele": "", "start": 5722 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.3502_5613dup" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser1871_Ile1872insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6364, "referenceAllele": "", "start": 6364 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.3133_5244dup" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser1748_Ile1749insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6152, "referenceAllele": "", "start": 6152 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.3982_6093dup" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.3982_6093dup" }, "RefSeq": { "hgvs": "NM_000038.6:c.3982_6093dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" } } } }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6260, "referenceAllele": "", "start": 6260 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.3982_6093dup" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6259, "referenceAllele": "", "start": 6259 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.3928_6039dup" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ser2013_Ile2014insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6496, "referenceAllele": "", "start": 6496 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.3982_6093dup" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ser2031_Ile2032insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6206, "referenceAllele": "", "start": 6206 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.4036_6147dup" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ser2049_Ile2050insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6343, "referenceAllele": "", "start": 6343 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.4012_6123dup" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ser2041_Ile2042insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6107, "referenceAllele": "", "start": 6107 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.3907_6018dup" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser2006_Ile2007insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6068, "referenceAllele": "", "start": 6068 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.3898_6009dup" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser2003_Ile2004insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6053, "referenceAllele": "", "start": 6053 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.3859_5970dup" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser1990_Ile1991insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 5999, "referenceAllele": "", "start": 5999 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.3805_5916dup" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ser1972_Ile1973insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6040, "referenceAllele": "", "start": 6040 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.3709_5820dup" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser1940_Ile1941insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 5849, "referenceAllele": "", "start": 5849 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.3679_5790dup" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser1930_Ile1931insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 5804, "referenceAllele": "", "start": 5804 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.3604_5715dup" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser1905_Ile1906insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 5696, "referenceAllele": "", "start": 5696 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.3502_5613dup" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser1871_Ile1872insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "coordinates": [ { "allele": "CAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCAAGAAACAGTTCTCTCAGTTCTCTTAGT", "end": 6338, "referenceAllele": "", "start": 6338 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.3133_5244dup" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser1748_Ile1749insGlnHisProArgThrLysSerSerArgLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }