ID
stringlengths 13
17
| question
stringlengths 88
1.13k
| answer
stringlengths 6
156
| reference_sequence
stringlengths 4.1k
4.1k
| variant_sequence
stringlengths 4.1k
4.1k
|
|---|---|---|---|---|
Task1_train_9800
|
Here is a genetic alteration in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
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CATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTATTTTCAAATCAGATCAAATCAGCCAAGTAAGTAGGGAAACGTAGGCACAAAGCCAACTAATCAAGCTAAAAGATATGATTTGAATTTAATTATCTATGTATTTTACAGCAAAATATAATTTAGCAAAGAAAAAAGAAGCAACATTTGAAAAGCTATCTCATTTATTCATCTCACATTGTGAGTGCAGATACAATATTTGAAACTGATATTCTCTAAGAATATTTTAAAAAGATGTAGTAACTGAGATGTGTTTCTCTAATATATTTTCTGATTTTAAAAACTAAAATGCTTTAAAATTTTACTTGGGATGATTCAAAATGAATGACGTGAAATTTTAAGAGCAACTTATGCATCATGACTTTAAAAAGAGACTTCAAATTGTGTCACAATAAATTGTTCTCATGCATCGCTACATGGTTATTCCTTTATTCTTTTAGTAGTGTTTCTTAATATATTCTCTGGATTATTTACATACATTTTGCTTCTTTTTTTTGTTTGTTTCTTTTCTTTTTTTAGAAGGAGTCTCACTGTGTTGCCCAGGCTGTAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTAAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACACCACCAGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCATGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCAAATTTTGCTTTTTAATTCAAATGTTCCATAATATATCTTCTTGATTTTTAGAGAATTTTATGTGTACGATTTACAAAGGCATTAATTCATTTGCACGATTACTTGACAAATGTTACTGAATGCCTGTTTTGAGTCATGCAGAATGCTAACTACTAGTTTGCAATGGTGAGCTTAAATGGGAACTGTTTGTAGACTCATGCAGATAAAGTCCAGTAGGGGGAAAGATACTGCAAAAATCACCACACAAATGAATATACACTTAAAATGTAAAGTAACTGCCATAAAGGAAAACCATGTGATTCAATGAACATGTGAAAAAATGTCTCATCATAGGAATTTAGTTATAAATTCTGAGTAAAATATTCATTTATTAGTGTCAAGCACCAGGATATCCTTGTATGTTTTTTATAAAGATTTTGTCCTAAGAAATGAGAGGAAATTGTTACAAAACCTAGAATGAATTGCAGACAAGATACGCACAATGTAGAAATACTGTTCCCTACCCTCCTCACCAAACATTTTTATAATGTTTGTGAAGTAGGAAGAAAGGACGTCAGAAAGCACAGAAAGAAGAAAATATGATCAGTATGCTAAAAATGTTTCCTTCCATCTAGTAGACAAATTGCTCTAAAAGAGTTGGGATTCAGTTCAGGTTGTGTTTCATTTTTGTTTTTTAACCCAAGCGGGCAAAAATAGTTTTCAACATACCACTTGTAGAAAACTCTTAATTTAAATGTGTGTGCATAACCATTAAATACATGCTTAGTTTTAATGTTTTCCAGTGATTGATAAAGGGTTGTATGGTGTTATCTTTGGTCTGTTCCAGGAGATTATGTGGTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTATATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCTGTTCCAGCCAGAACATCTTTAGGTGAGACACCTTTGTTTATGTTGCAGTTTCTCAAGATAAGTACCAAATACAAGTAATTTTTATGTCCATTTCTATGTTGATCTGCTTTAAATTTAGCCTGCAATTGCATAGAAATACCATTTGTTTCATATTCAAGAGAACTGGCATTTTTAATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGCACATAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTGGAGGGATTGGGGAGGAAAAGCATTAGGAGATATACCTAATGTTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGCATAATAAAAAAAAAAAAAAGATTTTTTTACTTCTATAGTTGGGTTCTCCTTAGTTACCTTGATAGGTTTTCTTGAGTAACTTTTCTTAAGAAATTTTAGTTAACTATTTTTTAAAAACTGTTTTAATATTAACAGATGTGTTTGTTTAGTTCTCTGGATAATATGCTGAAGCTGCTTGCACCAGCTCATGAAAGTTGATTGTGTTTATCTCTTCCCAACTTGGTATTCGGTGATGCCACATTGTTAATGTGAAATCACCCAAGGAGGAAATATTAACAACATGGAAACAAAAGTCAGGGCCTTCTTTTTTCTAGAGTTAATTGTTACACATTCACCAGCACGCCATTGGCTGTTGGCTATTCCCCACGAGTAATTATTGGGATAACATTTGAAGTAATCGGCTCTTTACAGAACAGCGATGGAAAAAATTATTTTTGAGAAAACATATTTACCTGTGAAATTTTTGGGGGAAAAGCGACTCTTAAGATTATTTGCAATTTGCTCAATCTAATATATATGGTGATCTTTGTCTTGAATTTTCACATCTGTTTCTTCACATGGGGAAGAAGACTCACACAGACTAAAACAAAGCCCAACACATGAAACTTTTTAAAACCTTAACTAAAAATAAAGCTAGTGGACGTGAACAAAATTCAACACCCTTTCATCAGCTATGTAAAACCTAGAACCACATCCCTTGCTAACTGTCTAAAGAGTCAGTAGGGTGTAATAGCTAGGAAATTGGGTTTTGGAGTCCCACAAATATGGGTTTGACATCACACATTTAGGATAACATTAGAATGTCATTTAATCTCTAATTCACAGTTTCCTCATATATAAAACATGTATAATTTCCTGTACCTAACTTATTGGGTTCTACTAGGGTTAAAGTATTCGATGCAAATTGCACATAAATAGTAAAGCCTCAGAAATGTTGGCTACTATAGTCATTTTCTGACAAAATGGTCTGTACTAAGTTATTAAGCTGAGGGCAGAAGTGATTACTGGGGGAAAAGACATCATTTGCATATCTGTCCTCTTCCAAACCTAATTTAGTTTCCCATCTGTTTCAAAAGAAAGTTATTTTGATTTTTCCTGTTATATGTGGTACTTTGTGTTACAAGTCCTTCTCAAAAATTAAAATATCTTGTCTAATGCTACACGCTGAAACAAACCCCAAATATGTTGAGCCTATTACTTTCGGACTATTACTTGTCACTATGAACAGATACATACTGTATTACAAGCTTCTATGTCTGTCATCAGAATGTCAGTCTTGTACATCTCTAGTACAGTGCCTGGAACATGGCTGGTACCTCAAATAATTGTTCAATTGATGTATACACTTATGTATGGCTGGAGCAAATACATTGATGTATTCTAATCCACCCTCTTCCCAAAAACATTTTAAGGAAGAGATTTCCAATCAATCTGTCCTCTTGAAGCCTGGATTCTTGCTGGCCA
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CATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTATTTTCAAATCAGATCAAATCAGCCAAGTAAGTAGGGAAACGTAGGCACAAAGCCAACTAATCAAGCTAAAAGATATGATTTGAATTTAATTATCTATGTATTTTACAGCAAAATATAATTTAGCAAAGAAAAAAGAAGCAACATTTGAAAAGCTATCTCATTTATTCATCTCACATTGTGAGTGCAGATACAATATTTGAAACTGATATTCTCTAAGAATATTTTAAAAAGATGTAGTAACTGAGATGTGTTTCTCTAATATATTTTCTGATTTTAAAAACTAAAATGCTTTAAAATTTTACTTGGGATGATTCAAAATGAATGACGTGAAATTTTAAGAGCAACTTATGCATCATGACTTTAAAAAGAGACTTCAAATTGTGTCACAATAAATTGTTCTCATGCATCGCTACATGGTTATTCCTTTATTCTTTTAGTAGTGTTTCTTAATATATTCTCTGGATTATTTACATACATTTTGCTTCTTTTTTTTGTTTGTTTCTTTTCTTTTTTTAGAAGGAGTCTCACTGTGTTGCCCAGGCTGTAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTAAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACACCACCAGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCATGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCAAATTTTGCTTTTTAATTCAAATGTTCCATAATATATCTTCTTGATTTTTAGAGAATTTTATGTGTACGATTTACAAAGGCATTAATTCATTTGCACGATTACTTGACAAATGTTACTGAATGCCTGTTTTGAGTCATGCAGAATGCTAACTACTAGTTTGCAATGGTGAGCTTAAATGGGAACTGTTTGTAGACTCATGCAGATAAAGTCCAGTAGGGGGAAAGATACTGCAAAAATCACCACACAAATGAATATACACTTAAAATGTAAAGTAACTGCCATAAAGGAAAACCATGTGATTCAATGAACATGTGAAAAAATGTCTCATCATAGGAATTTAGTTATAAATTCTGAGTAAAATATTCATTTATTAGTGTCAAGCACCAGGATATCCTTGTATGTTTTTTATAAAGATTTTGTCCTAAGAAATGAGAGGAAATTGTTACAAAACCTAGAATGAATTGCAGACAAGATACGCACAATGTAGAAATACTGTTCCCTACCCTCCTCACCAAACATTTTTATAATGTTTGTGAAGTAGGAAGAAAGGACGTCAGAAAGCACAGAAAGAAGAAAATATGATCAGTATGCTAAAAATGTTTCCTTCCATCTAGTAGACAAATTGCTCTAAAAGAGTTGGGATTCAGTTCAGGTTGTGTTTCATTTTTGTTTTTTAACCCAAGCGGGCAAAAATAGTTTTCAACATACCACTTGTAGAAAACTCTTAATTTAAATGTGTGTGCATAACCATTAAATACATGCTTAGTTTTAATGTTTTCCAGTGATTGATAAAGGGTTGTATGGTGTTATCTTTGGTCTGTTCCAGGAGATTATGTGGTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTATATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCTGTTCCAGCCAGAACATTTTTAGGTGAGACACCTTTGTTTATGTTGCAGTTTCTCAAGATAAGTACCAAATACAAGTAATTTTTATGTCCATTTCTATGTTGATCTGCTTTAAATTTAGCCTGCAATTGCATAGAAATACCATTTGTTTCATATTCAAGAGAACTGGCATTTTTAATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGCACATAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTGGAGGGATTGGGGAGGAAAAGCATTAGGAGATATACCTAATGTTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGCATAATAAAAAAAAAAAAAAGATTTTTTTACTTCTATAGTTGGGTTCTCCTTAGTTACCTTGATAGGTTTTCTTGAGTAACTTTTCTTAAGAAATTTTAGTTAACTATTTTTTAAAAACTGTTTTAATATTAACAGATGTGTTTGTTTAGTTCTCTGGATAATATGCTGAAGCTGCTTGCACCAGCTCATGAAAGTTGATTGTGTTTATCTCTTCCCAACTTGGTATTCGGTGATGCCACATTGTTAATGTGAAATCACCCAAGGAGGAAATATTAACAACATGGAAACAAAAGTCAGGGCCTTCTTTTTTCTAGAGTTAATTGTTACACATTCACCAGCACGCCATTGGCTGTTGGCTATTCCCCACGAGTAATTATTGGGATAACATTTGAAGTAATCGGCTCTTTACAGAACAGCGATGGAAAAAATTATTTTTGAGAAAACATATTTACCTGTGAAATTTTTGGGGGAAAAGCGACTCTTAAGATTATTTGCAATTTGCTCAATCTAATATATATGGTGATCTTTGTCTTGAATTTTCACATCTGTTTCTTCACATGGGGAAGAAGACTCACACAGACTAAAACAAAGCCCAACACATGAAACTTTTTAAAACCTTAACTAAAAATAAAGCTAGTGGACGTGAACAAAATTCAACACCCTTTCATCAGCTATGTAAAACCTAGAACCACATCCCTTGCTAACTGTCTAAAGAGTCAGTAGGGTGTAATAGCTAGGAAATTGGGTTTTGGAGTCCCACAAATATGGGTTTGACATCACACATTTAGGATAACATTAGAATGTCATTTAATCTCTAATTCACAGTTTCCTCATATATAAAACATGTATAATTTCCTGTACCTAACTTATTGGGTTCTACTAGGGTTAAAGTATTCGATGCAAATTGCACATAAATAGTAAAGCCTCAGAAATGTTGGCTACTATAGTCATTTTCTGACAAAATGGTCTGTACTAAGTTATTAAGCTGAGGGCAGAAGTGATTACTGGGGGAAAAGACATCATTTGCATATCTGTCCTCTTCCAAACCTAATTTAGTTTCCCATCTGTTTCAAAAGAAAGTTATTTTGATTTTTCCTGTTATATGTGGTACTTTGTGTTACAAGTCCTTCTCAAAAATTAAAATATCTTGTCTAATGCTACACGCTGAAACAAACCCCAAATATGTTGAGCCTATTACTTTCGGACTATTACTTGTCACTATGAACAGATACATACTGTATTACAAGCTTCTATGTCTGTCATCAGAATGTCAGTCTTGTACATCTCTAGTACAGTGCCTGGAACATGGCTGGTACCTCAAATAATTGTTCAATTGATGTATACACTTATGTATGGCTGGAGCAAATACATTGATGTATTCTAATCCACCCTCTTCCCAAAAACATTTTAAGGAAGAGATTTCCAATCAATCTGTCCTCTTGAAGCCTGGATTCTTGCTGGCCA
|
Task1_train_9801
|
A variant found in Chromosome 5 affects GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Febrile seizures, familial, 8
|
CATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTATTTTCAAATCAGATCAAATCAGCCAAGTAAGTAGGGAAACGTAGGCACAAAGCCAACTAATCAAGCTAAAAGATATGATTTGAATTTAATTATCTATGTATTTTACAGCAAAATATAATTTAGCAAAGAAAAAAGAAGCAACATTTGAAAAGCTATCTCATTTATTCATCTCACATTGTGAGTGCAGATACAATATTTGAAACTGATATTCTCTAAGAATATTTTAAAAAGATGTAGTAACTGAGATGTGTTTCTCTAATATATTTTCTGATTTTAAAAACTAAAATGCTTTAAAATTTTACTTGGGATGATTCAAAATGAATGACGTGAAATTTTAAGAGCAACTTATGCATCATGACTTTAAAAAGAGACTTCAAATTGTGTCACAATAAATTGTTCTCATGCATCGCTACATGGTTATTCCTTTATTCTTTTAGTAGTGTTTCTTAATATATTCTCTGGATTATTTACATACATTTTGCTTCTTTTTTTTGTTTGTTTCTTTTCTTTTTTTAGAAGGAGTCTCACTGTGTTGCCCAGGCTGTAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTAAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACACCACCAGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCATGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCAAATTTTGCTTTTTAATTCAAATGTTCCATAATATATCTTCTTGATTTTTAGAGAATTTTATGTGTACGATTTACAAAGGCATTAATTCATTTGCACGATTACTTGACAAATGTTACTGAATGCCTGTTTTGAGTCATGCAGAATGCTAACTACTAGTTTGCAATGGTGAGCTTAAATGGGAACTGTTTGTAGACTCATGCAGATAAAGTCCAGTAGGGGGAAAGATACTGCAAAAATCACCACACAAATGAATATACACTTAAAATGTAAAGTAACTGCCATAAAGGAAAACCATGTGATTCAATGAACATGTGAAAAAATGTCTCATCATAGGAATTTAGTTATAAATTCTGAGTAAAATATTCATTTATTAGTGTCAAGCACCAGGATATCCTTGTATGTTTTTTATAAAGATTTTGTCCTAAGAAATGAGAGGAAATTGTTACAAAACCTAGAATGAATTGCAGACAAGATACGCACAATGTAGAAATACTGTTCCCTACCCTCCTCACCAAACATTTTTATAATGTTTGTGAAGTAGGAAGAAAGGACGTCAGAAAGCACAGAAAGAAGAAAATATGATCAGTATGCTAAAAATGTTTCCTTCCATCTAGTAGACAAATTGCTCTAAAAGAGTTGGGATTCAGTTCAGGTTGTGTTTCATTTTTGTTTTTTAACCCAAGCGGGCAAAAATAGTTTTCAACATACCACTTGTAGAAAACTCTTAATTTAAATGTGTGTGCATAACCATTAAATACATGCTTAGTTTTAATGTTTTCCAGTGATTGATAAAGGGTTGTATGGTGTTATCTTTGGTCTGTTCCAGGAGATTATGTGGTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTATATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCTGTTCCAGCCAGAACATCTTTAGGTGAGACACCTTTGTTTATGTTGCAGTTTCTCAAGATAAGTACCAAATACAAGTAATTTTTATGTCCATTTCTATGTTGATCTGCTTTAAATTTAGCCTGCAATTGCATAGAAATACCATTTGTTTCATATTCAAGAGAACTGGCATTTTTAATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGCACATAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTGGAGGGATTGGGGAGGAAAAGCATTAGGAGATATACCTAATGTTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGCATAATAAAAAAAAAAAAAAGATTTTTTTACTTCTATAGTTGGGTTCTCCTTAGTTACCTTGATAGGTTTTCTTGAGTAACTTTTCTTAAGAAATTTTAGTTAACTATTTTTTAAAAACTGTTTTAATATTAACAGATGTGTTTGTTTAGTTCTCTGGATAATATGCTGAAGCTGCTTGCACCAGCTCATGAAAGTTGATTGTGTTTATCTCTTCCCAACTTGGTATTCGGTGATGCCACATTGTTAATGTGAAATCACCCAAGGAGGAAATATTAACAACATGGAAACAAAAGTCAGGGCCTTCTTTTTTCTAGAGTTAATTGTTACACATTCACCAGCACGCCATTGGCTGTTGGCTATTCCCCACGAGTAATTATTGGGATAACATTTGAAGTAATCGGCTCTTTACAGAACAGCGATGGAAAAAATTATTTTTGAGAAAACATATTTACCTGTGAAATTTTTGGGGGAAAAGCGACTCTTAAGATTATTTGCAATTTGCTCAATCTAATATATATGGTGATCTTTGTCTTGAATTTTCACATCTGTTTCTTCACATGGGGAAGAAGACTCACACAGACTAAAACAAAGCCCAACACATGAAACTTTTTAAAACCTTAACTAAAAATAAAGCTAGTGGACGTGAACAAAATTCAACACCCTTTCATCAGCTATGTAAAACCTAGAACCACATCCCTTGCTAACTGTCTAAAGAGTCAGTAGGGTGTAATAGCTAGGAAATTGGGTTTTGGAGTCCCACAAATATGGGTTTGACATCACACATTTAGGATAACATTAGAATGTCATTTAATCTCTAATTCACAGTTTCCTCATATATAAAACATGTATAATTTCCTGTACCTAACTTATTGGGTTCTACTAGGGTTAAAGTATTCGATGCAAATTGCACATAAATAGTAAAGCCTCAGAAATGTTGGCTACTATAGTCATTTTCTGACAAAATGGTCTGTACTAAGTTATTAAGCTGAGGGCAGAAGTGATTACTGGGGGAAAAGACATCATTTGCATATCTGTCCTCTTCCAAACCTAATTTAGTTTCCCATCTGTTTCAAAAGAAAGTTATTTTGATTTTTCCTGTTATATGTGGTACTTTGTGTTACAAGTCCTTCTCAAAAATTAAAATATCTTGTCTAATGCTACACGCTGAAACAAACCCCAAATATGTTGAGCCTATTACTTTCGGACTATTACTTGTCACTATGAACAGATACATACTGTATTACAAGCTTCTATGTCTGTCATCAGAATGTCAGTCTTGTACATCTCTAGTACAGTGCCTGGAACATGGCTGGTACCTCAAATAATTGTTCAATTGATGTATACACTTATGTATGGCTGGAGCAAATACATTGATGTATTCTAATCCACCCTCTTCCCAAAAACATTTTAAGGAAGAGATTTCCAATCAATCTGTCCTCTTGAAGCCTGGATTCTTGCTGGCCA
|
CATGATCACTACCTCAGCCAGGTCTGACTTAAACAAGTAACTGTATGCCAATCTAACAAAAGGCAGTGTTAAGAGGCATTCAAAACCCCACTTAGGAAATATTGCAAGGTTAGGGGACAGTCTACTCCCTCAAAGAGCAGCCAATAAAGGCCTTTCTATTTCAGCAGCTTTGAGGGGTATGGGGTGAAGCTTGAGAGTGGGAAAGAAAAACTAGACTGAGTAGTAATAACTCACCCCGCTAATTCAATCTTCTCTGCATGAGGCTTGTAGGGCACCTTATTTTCAAATCAGATCAAATCAGCCAAGTAAGTAGGGAAACGTAGGCACAAAGCCAACTAATCAAGCTAAAAGATATGATTTGAATTTAATTATCTATGTATTTTACAGCAAAATATAATTTAGCAAAGAAAAAAGAAGCAACATTTGAAAAGCTATCTCATTTATTCATCTCACATTGTGAGTGCAGATACAATATTTGAAACTGATATTCTCTAAGAATATTTTAAAAAGATGTAGTAACTGAGATGTGTTTCTCTAATATATTTTCTGATTTTAAAAACTAAAATGCTTTAAAATTTTACTTGGGATGATTCAAAATGAATGACGTGAAATTTTAAGAGCAACTTATGCATCATGACTTTAAAAAGAGACTTCAAATTGTGTCACAATAAATTGTTCTCATGCATCGCTACATGGTTATTCCTTTATTCTTTTAGTAGTGTTTCTTAATATATTCTCTGGATTATTTACATACATTTTGCTTCTTTTTTTTGTTTGTTTCTTTTCTTTTTTTAGAAGGAGTCTCACTGTGTTGCCCAGGCTGTAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTAAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACACCACCAGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCATGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCAAATTTTGCTTTTTAATTCAAATGTTCCATAATATATCTTCTTGATTTTTAGAGAATTTTATGTGTACGATTTACAAAGGCATTAATTCATTTGCACGATTACTTGACAAATGTTACTGAATGCCTGTTTTGAGTCATGCAGAATGCTAACTACTAGTTTGCAATGGTGAGCTTAAATGGGAACTGTTTGTAGACTCATGCAGATAAAGTCCAGTAGGGGGAAAGATACTGCAAAAATCACCACACAAATGAATATACACTTAAAATGTAAAGTAACTGCCATAAAGGAAAACCATGTGATTCAATGAACATGTGAAAAAATGTCTCATCATAGGAATTTAGTTATAAATTCTGAGTAAAATATTCATTTATTAGTGTCAAGCACCAGGATATCCTTGTATGTTTTTTATAAAGATTTTGTCCTAAGAAATGAGAGGAAATTGTTACAAAACCTAGAATGAATTGCAGACAAGATACGCACAATGTAGAAATACTGTTCCCTACCCTCCTCACCAAACATTTTTATAATGTTTGTGAAGTAGGAAGAAAGGACGTCAGAAAGCACAGAAAGAAGAAAATATGATCAGTATGCTAAAAATGTTTCCTTCCATCTAGTAGACAAATTGCTCTAAAAGAGTTGGGATTCAGTTCAGGTTGTGTTTCATTTTTGTTTTTTAACCCAAGCGGGCAAAAATAGTTTTCAACATACCACTTGTAGAAAACTCTTAATTTAAATGTGTGTGCATAACCATTAAATACATGCTTAGTTTTAATGTTTTCCAGTGATTGATAAAGGGTTGTATGGTGTTATCTTTGGTCTGTTCCAGGAGATTATGTGGTCATGTCTGTCTACTTTGATCTGAGCAGAAGAATGGGATACTTTACCATCCAGACCTATATCCCCTGCACACTCATTGTCGTCCTATCCTGGGTGTCTTTCTGGATCAATAAGGATGCTGTTCCAGCCAGAACATTTTTAGGTGAGACACCTTTGTTTATGTTGCAGTTTCTCAAGATAAGTACCAAATACAAGTAATTTTTATGTCCATTTCTATGTTGATCTGCTTTAAATTTAGCCTGCAATTGCATAGAAATACCATTTGTTTCATATTCAAGAGAACTGGCATTTTTAATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAAAAAACCAAACACTGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGCACATAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTGGAGGGATTGGGGAGGAAAAGCATTAGGAGATATACCTAATGTTAAATGACGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGCATAATAAAAAAAAAAAAAAGATTTTTTTACTTCTATAGTTGGGTTCTCCTTAGTTACCTTGATAGGTTTTCTTGAGTAACTTTTCTTAAGAAATTTTAGTTAACTATTTTTTAAAAACTGTTTTAATATTAACAGATGTGTTTGTTTAGTTCTCTGGATAATATGCTGAAGCTGCTTGCACCAGCTCATGAAAGTTGATTGTGTTTATCTCTTCCCAACTTGGTATTCGGTGATGCCACATTGTTAATGTGAAATCACCCAAGGAGGAAATATTAACAACATGGAAACAAAAGTCAGGGCCTTCTTTTTTCTAGAGTTAATTGTTACACATTCACCAGCACGCCATTGGCTGTTGGCTATTCCCCACGAGTAATTATTGGGATAACATTTGAAGTAATCGGCTCTTTACAGAACAGCGATGGAAAAAATTATTTTTGAGAAAACATATTTACCTGTGAAATTTTTGGGGGAAAAGCGACTCTTAAGATTATTTGCAATTTGCTCAATCTAATATATATGGTGATCTTTGTCTTGAATTTTCACATCTGTTTCTTCACATGGGGAAGAAGACTCACACAGACTAAAACAAAGCCCAACACATGAAACTTTTTAAAACCTTAACTAAAAATAAAGCTAGTGGACGTGAACAAAATTCAACACCCTTTCATCAGCTATGTAAAACCTAGAACCACATCCCTTGCTAACTGTCTAAAGAGTCAGTAGGGTGTAATAGCTAGGAAATTGGGTTTTGGAGTCCCACAAATATGGGTTTGACATCACACATTTAGGATAACATTAGAATGTCATTTAATCTCTAATTCACAGTTTCCTCATATATAAAACATGTATAATTTCCTGTACCTAACTTATTGGGTTCTACTAGGGTTAAAGTATTCGATGCAAATTGCACATAAATAGTAAAGCCTCAGAAATGTTGGCTACTATAGTCATTTTCTGACAAAATGGTCTGTACTAAGTTATTAAGCTGAGGGCAGAAGTGATTACTGGGGGAAAAGACATCATTTGCATATCTGTCCTCTTCCAAACCTAATTTAGTTTCCCATCTGTTTCAAAAGAAAGTTATTTTGATTTTTCCTGTTATATGTGGTACTTTGTGTTACAAGTCCTTCTCAAAAATTAAAATATCTTGTCTAATGCTACACGCTGAAACAAACCCCAAATATGTTGAGCCTATTACTTTCGGACTATTACTTGTCACTATGAACAGATACATACTGTATTACAAGCTTCTATGTCTGTCATCAGAATGTCAGTCTTGTACATCTCTAGTACAGTGCCTGGAACATGGCTGGTACCTCAAATAATTGTTCAATTGATGTATACACTTATGTATGGCTGGAGCAAATACATTGATGTATTCTAATCCACCCTCTTCCCAAAAACATTTTAAGGAAGAGATTTCCAATCAATCTGTCCTCTTGAAGCCTGGATTCTTGCTGGCCA
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Task1_train_9802
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Mutation context: Chromosome 5, Gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Febrile seizures, familial, 8
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CTAAGCATGTTCTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCC
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CTAAGCATGTTCTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCAGCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCC
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Task1_train_9803
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Here is a variant affecting GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
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CTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGG
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CTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGTCAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGG
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Task1_train_9804
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The gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Febrile seizures, familial, 8
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CTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGG
|
CTACCAGTTACCTACTTATGAGAGAATAAGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGTCAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGG
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Task1_train_9805
|
A variant affecting Chromosome 5, within the gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Developmental and epileptic encephalopathy, 74
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AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGC
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AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCAGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGC
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Task1_train_9806
|
A variant affecting Chromosome 5, within the gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Inborn genetic diseases
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AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGC
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AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCAGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGC
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Task1_train_9807
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An alteration has been detected in GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
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AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGC
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AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCAGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGC
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Task1_train_9808
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Given this variant in gene GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Febrile seizures, familial, 8
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AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGC
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AGAGCTTTACATCTTTTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCAGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGC
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Task1_train_9809
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This gene mutation involves GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2) on Chromosome 5. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Febrile seizures, familial, 8
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TTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCAAGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGCAGAGGAGAACAGGAT
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TTCCTGTATGACACTGGTGCTTTTCTCAGTATCTTCCTCTTCTCTTGCCCTCCAAGTCTCTCTACCTCTTTCTTTCTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTATTTCTTTCTTTCATTCTTTCTTTTTTCTTTTTCTTTCTCCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCTTCCTCTGTCTCTCTTTCTGTCTGTCTGTCTTTCTTTTTGACAGAGTTTTTACTCTTGTCACCCAGGCCGGAGTGCAATGCCACGATTTCAGCTCATTGCAACCCCCGCCTCCCGTGTTCAAGTGATTCTCCTGCCTCAGCCCCTCGAGTAGCTGGGATTACAGGCACCCACCACCAAGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAAGGTTTCACTATGTTGGTCAGGCTGGTCTCAAATTCCTGACCTCCTGATCCACCCACCTCGGCCTCCCAGAGTACTGGGATTTCAGGTGTGAGCCACCATGCCTGGCCCGACCTGTTTCGAAGTTTCCCTAGCACTTCCTTTTGACAGAGGAGAATCTGGCTGTCCCCTAGAAGTCTCTTGGTTAGCAGTAATAGTCAGAATTGCACATCTTTAAATGATGCAAACTTTATTTTTCTTTTCTGTCCCCCGTAAGAAATATAAATAACAAAACCTGGTAAAAGTTGGGATTATTGCTTTTAGAGTACAGAAAGATGCCTCCACTCAGGATTAGAAATGCCAAACTAGAATCGTAGAATGGTAAGATAGGTGGACCTTCAAAGAGTTAGTCCCACAGATGAGAAAACTGAGGCCTAGAGTGTTAAGATAACTTAAGTTCCTATAGCAAGAGCTAGAACCTATTTGAATACTGAATCCATTTTGCCTTTAGTATAAATTACACAACTTTTACATAAGAGAGCTCCTCATCCTTCTCTGGTTGATAAATATAGGTTGTCTTGACATTGTTCCCTGTCACTAAACAACCACTGGAGAGGACAGGTTTGGATAGGTGCTTTTGTATAATTAGTAAAGTATGAGCTTTGAAATCACTCATGTAATTTCTGTGTTCAATTCTGTCTGCTACTTACCAACTATTGGATGTGGTACTGGTCCTTTAGCCTTGTTCTTCTGATCTATAAATTCAGAATGAAAATACCTGCTGTGAAGATTCAAAGAAACAATGTATATGAAGCGCTTATCACTGCCCTTGGCAGAAGGAAGTTTTCAGTAAATATTACCTATTATGTTACTTCTGAGATACTTATTTTAATCCTATAATAATCTAAAAAGAATCCATCAATCAGAGCATGTCACTTACACATAACCCACCTCCTCTATTTAGCATCTTTGAATAATTTCTCCCTGCAATTGGAATAAAATGTAAACTGTCTGCATGTGCCACATTTTATAACTTCCTTTTTATCAAAATAATTTTAATCCCCTTGTCCCTTCCCAGGTGCCAGGTCTTCTAAAAATTTAAATAACAGACAAGGTTTCTCTTTCTCAGAACCCTCCCTTAATTTAATAATGATCAAAAGGTTAGTTTCTTCTTACATTTTAAGCTTTACTTTAAACATCAACCCCTCAAAAAGGTCTTCTCTGAGCATTCCATCTAACTAGCTTCTCACCATCCCTGTATTCTCCATGGCACATACCATAATGTAACATTATACTTTTCTCTGCTGACATGATTCACAGTATATCTCTCTCACTAAAATATAAGGTACACAAAGGCCAGACCAAATCTATTCATCAGTGTTTGTCATTTCAACTGATACATAGTAGACAGGCAATAAATATTTGTAAATAGAGTGAATTAAATCCACTTATACCTCCTTTCCCATTGCTGAAACTGCCCATCAGAAGTCATGAAACAATGTAGTCTCACGAGTGACTCAGTTACCCAACTTGCTTATGCAATCACATGACCTGTATTATTACACCTCTCTTCAGGTATCACCACTGTCCTGACAATGACCACCCTCAGCACCATTGCCCGGAAATCGCTCCCCATGGTCTCCTATGTCACAGCGATGGATCTCTTTGTATCTGTTTGTTTCATCTTTGTCTTCTCTGCTCTGGTGGAGTATGGCACCTTGCATTATTTTGTCAGCAACCGGAAACCAAGCAAGGACAAAGATAAAAAGAAGAAAAACCCTGTATGTATCATTTTCCATTGGCACCATTGAAATTTTTATGATTTCGGTTTAGTTTGTTTTCATTAGCCTATCTGCAGGCTAAGGCTCAGCAGTTTGGGCTCCAAGATGAAAACAGCATGTATGAGTTTAGCCAGGCCATAACGATTCATTTACAGTCATTAGTTACTTGAGAGAGACTCAAGTCTGTTTCTATTTTCTGTGTCAGAGTTCTTATGCAAATATAATTACCTGCTCTCTTTATTTTGTGGAGACTAAAGCCATTTTTGAGAAATGTGACCTTCTTCTTGTTGCTATTATTCCAGGTTTCACTGATTTTTTGAGATGGAGTGTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTTACTGCAACCTCTGCCTCCTAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTATAGGCACACGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGTCTCGGCCTCCCAAAGTGCTGGGATTAGATGCGTGAGCCACTGCGCCTGGCCATGATAATATTATTAAATCACTGATATTTTAAATTAAAACTTCCATCTCAGGCATTCCACTAGGAAGCTATAAGGTCCTTGAAGTTTCAAGGCTGACTACATTTTTGCAAATGATTTAGTGTGTGTATGGAGGTGGAATGTGGGTATTGTCACCAGATAATTTCTATTGATTTCATTCTCGAAATGTATCTTTTTGTTTTTAAAACAAATGATTTACTATTATATGGGCAAGTTAGTTAGCCTCCTTGTGTGTTTTATATATATATATGTAGTGTATTATTTAAAAACACTTGTCTTATGGGGCTCCTATGAGAAATAAATGTGGCAATGAAGGGCAAAACAAAAAATCCCAAAATATTACATAGTACTCTACACATGAATGTACTTAACATTAGTAGTTGGTGATGATAGTTGATTTTGATGATTTATACAGTTTCCAGCCTGGATTGACTTCAGTGCCACAATTTGAAAACAGGGAGGATGACTTCTACTTGCAACCAAACTTTAAATAGTGAGGATGAAGCATAAACACAAATGCCTAAAGCAACTGTTTTTTATTGTGAGTGTTGAGGAGAGCACATAGTTACCCATTTACACACCTGAACAAAGTGGCTGGCTCATAGAAATCCCCATGAAAGTTAAGGTCCATTCCCTTCCAAGATATGGGCAAAGAGAATCACCTGACAATCCTGGATCATGGCCTTCTGCTTTGAGAGCCGTAATAACGCTCTACCTATCCAACCCAGAGACTTTGGAGGTTGAATTGTAAGGAAGGAATTTAGCTGATTCTAGGTTGTATTCTGATGCAGCTGCAGAAACCCAAGTGAAATACTACAAGAGTAATGTGTTTATTTGAATGTAAGACTTTGGAACATGGAAAGAAAGAAACATCATTATTCTTGATTTAAAAAATGCTTTCTTTAATTGCTCAAATATTTACAATGCTTTATGCAGTCCTTCCCTTCCCTGTCTGTTTTGCCTCTCTCTGACTTTCCATTTTCTCTATCCTTGTTTTATTTTCCTTGTTGTGTTGTTTTTGTTTGCTCCCTCTTGTTCACTTTCCATTTCACTCTCCCTCAAGAAGGTGGTTCTATTGAGAGTTGGCATATTACCTGCCAGCTATAACAAGGACATGAGGACTGGCTTTCAAACAAGTTCTGATGAGTCCTTTGGAAAAAGCCCCTTGGCCCTCTCTGTCAGCTACGCCATTGCAGAGTAGATTTTGTTGCAAAGATAGAGGCAGATTCCCTTATTCAGGGTCATGGAAATGGCAGAAGAAGAAAAGGCAGAGGAGAACAGGAT
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Task1_train_9810
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Given a variant located on Chromosome 5 and affecting RARS1 (arginyl-tRNA synthetase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Hypomyelinating leukodystrophy 9
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AATAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTCTCCTATATAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATGTTTTGTATTTTTGGTAGAGACGATGTTTCACCATTTTTTCCAGGCTGGTCTTGGACTCCTGGGCTCAAGAAATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGACATGAGCCACTGTGCCTAGCTCGATGTCAACTTTTAAAAGTATACACTGGGATATGAATTTTTAAAATACTTTTATGAGGCACGGAAGCGAAAACGTTTAGAGTGCTACTTTCTAAGTTCTGGAGTCATAGAGAAGAGTGAACAAGATAATTAAGGTCCCTGCCCTCTTAGAACATATATCCCAGGTTTGCTGTTTATAATTTTAACTCAATATATATACAATGAAATATTATTCAGCCTTATAAAAGAAAACCCTGTTATGGGTGACAACATAGATGAACCTGGAGAACATTATGTTGGTGCAATAAGCCGGGCACAGAAAGACAAATACTACATTAGCCCATGTATATGTGTAATCTAAAAAATTCAGATTCATAGAAGCAGAGCATAGAATGGTGGTTGTCAGGGCTTCAGAGGTAGGAAAGATGGGAGATGTTGCTCAAAGTTACAAAGTTTCAGTTAGGCGGGATGAATAGATTCTAGAGATGTAATGTATATTGTATACTTGCAGTTTTCGTTTTCGTTTCGTTTTGTTTGTTTTTAAATAGAGAGAGAAAAGGTCTCACTCTGTCATCCAGGCAGAGTACAGTGGCATGATCATGGCTCACCGCAGCCTCAAATTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTATATACCAGGGACTACAGGCACATGCCACCATGCCCGGCTATTTTTCCATTTTTTTGTAGAGACGAGGTCTTAGCTGTTTCCCAGGATGAGAATAGATCTTAAATGTTCACAGCACACACGCGCGCGCGCGCGCGCGCACACACACACACACACACACATGCAAATGATAACTGTATGAGATGAAGGTTATGTTAATTATTTTGGTTGTGGTAATCATTTCAGAATGTATACATATATCAAAACATTACGTTGTACATCGTTATGATATACAATCTTTGTCAATTATACCTCAATAAAACTGGAAAAATAAATAAGATTTTAACTCAAATGTCACTTGCTTAGAGATGTCTTCTCTCACCCAAGTCACTCTATCACATTGCCTTCCTAGCAATTAAAACTACCTGAGATTATTGCCTTTTTTGGTCTATTTTCTCTCTCCATTCTAAAATGTGTCTGCCGTGAGAGGGGAGATCGTGTCTGTTTTGTTTTCTTTGTGCCCCCAGAGCCTAGAATACTGTCTGGCATTTTAAAGTACACAATAAATGTTTGTTGAATAAATGAATGGATTTGTTAGTTTTGTGCCCATTTCACAAAGGGGCAAAGTGAGGCCTTTGAGAGCCAGAAGCTCTAGGTCAGTGACTGTCCTAGTCTATCCAAGCACAGAGCAGCTCTGGTTAGTGTCTGCTCAATTCCTCTCCCCTCGCCCAAACGTCCCTGAGTTGCGGCCTCGCTCCTGACCGAAATCCCCGCGGGTTCTCCTCGCAGTGTCTACTGGATCCCGCCAGGAGGCAGCAGAGGCGCCAGCACCCAGTCCGACGGGACAGCGGACCGGAGGGGGTTTCCGCTTCCGGGAGAGGCTGACCGTTTCCGCTTCCGTCCACTTGGCGAGTGAGACGCTGATGGGAGGATGGACGTACTGGTGTCTGAGTGCTCCGCGCGGCTGCTGCAGCAGGTTTGGACGCAGGAGACCGGCGGGAAGGCCTGAAAGAGATGGAGCAGGCTCTGACTCCTGCCCAAGCGGCTTCGGGGGCGGGACAGCTAGGCGAGGACCATCCTGGTCCTCTCAGAGTGGAGCGGCACGGTCCCTGTGGGAACAGGAAGGGTTGAGAGAGGAAGCACCCATCATTTCAAAGCCCGTGTGACTGTGATTTTCAGCGGAATGGAGGGTCCCCACCCTCTCCCAGGCCTCCCCCAAACCAGCGTCTTCGGTGGGCTGGAGCCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCTGCATACACACGCGATTTAGGGGATGCGGGGAGATAGACAAGGGGGGAATACATTCAGAGCTCTGGGTCTTGGTTTGCAGCTCAGCCGCAGTTCTTCCCGGGTTACTGAGCGAGAGGATTCCTAATAAGCCCATGGGGTGATTCATTATCAGACCAGCGGAGCTTGCTCTGTGCCCTCAGCATTCGTCGGGAAGGAGCAGCCACACCATATAAAAGTGAAAGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTGAAAATACAAAAAAACTTAACCGGCTGTGTTGGGGGGGGTCCCTGTATTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCACACCACTGCACCACAGCCTGGGCGACAGAGTGAGACTCCGTCCCCCTACAAAAAAAAAAAGTGAAAGCGGAACAGTTCCATTACCTTTTATGCCCAGGTGGGGAGGGATGGTAGGAAGATAGTTCACAGTACTCTGTCCTGTTACGGCTGTATACTTAATCAGCAGTCACAAAGTACAAGTTAGTCAAGTAAATTGGCAAGCTCTTTACATTTCTGAGCCATTTATTTATCGGTATGTATTTATCTTTGCCTCACTTGGTTGTGATAATCATGAAGGTAATTTCTGAAAAGTGTTTTTAGCTCAGCTCCTGGAACATAATGTATGCTCATTTTTGGCAATTTGGTTTTGGCTGTAGCTATCTCCCAGTAAGTATTCTGAAATTTCAGGTGAGGAACTCCCCCTGAGTTTTGCAGTTTAAGTTGGAAGCTTTATTTCTTTCTGAATTGACATGTCTTTAGTTTTAGATGTTAAACTACAAAGCCTGGTCTGGTCTAGTCTAGGACCTAAGACACTGGAAACAGGAAGAAATGGGAAAATTGTTTAGTCCCAGAAAGGGTGAAAGGCAGACCCTTGAGCTATTTTGAATGTGACAAAGGACATTTGGGTTTTTTAAGAGTCCCAGGTCATAGGATTTGGGAATAAAAGCAGGTTGGTCAACCTGAAACTTAACTACTCTTGCTAAATCAGAGTGTTTATCGAGCCAAAGAAAAGAACTAGGGATATGAGACATGAGGCATATCCCATTATATACTTACTCCGATTCCTGTCTCCCAAAACACATGTATGTGTGGTTAATATATTCTTTTTCTTTTTCTTTTTTTTTGAAACAGAGTCTCGCTCTGTCAAGCAGACTGGAGTGCAGTGGCACGATCTCGACTCACCGCAACCTCAGCCTCTGGGATTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTATGTTTGCCATGCTGGTCTTGAACTCTTGGCCTCAAGTCATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAATATTTTCTTATTAAGGATAATATGCTAACGTCAGCAAAAATCTCAGAGGAGAAAGAAACACAGCTCATCAAAGGGAACATTAATGATTCCCATGGTCTATGCCACGCCTTGGTAGAG
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AATAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTCTCCTATATAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATGTTTTGTATTTTTGGTAGAGACGATGTTTCACCATTTTTTCCAGGCTGGTCTTGGACTCCTGGGCTCAAGAAATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGACATGAGCCACTGTGCCTAGCTCGATGTCAACTTTTAAAAGTATACACTGGGATATGAATTTTTAAAATACTTTTATGAGGCACGGAAGCGAAAACGTTTAGAGTGCTACTTTCTAAGTTCTGGAGTCATAGAGAAGAGTGAACAAGATAATTAAGGTCCCTGCCCTCTTAGAACATATATCCCAGGTTTGCTGTTTATAATTTTAACTCAATATATATACAATGAAATATTATTCAGCCTTATAAAAGAAAACCCTGTTATGGGTGACAACATAGATGAACCTGGAGAACATTATGTTGGTGCAATAAGCCGGGCACAGAAAGACAAATACTACATTAGCCCATGTATATGTGTAATCTAAAAAATTCAGATTCATAGAAGCAGAGCATAGAATGGTGGTTGTCAGGGCTTCAGAGGTAGGAAAGATGGGAGATGTTGCTCAAAGTTACAAAGTTTCAGTTAGGCGGGATGAATAGATTCTAGAGATGTAATGTATATTGTATACTTGCAGTTTTCGTTTTCGTTTCGTTTTGTTTGTTTTTAAATAGAGAGAGAAAAGGTCTCACTCTGTCATCCAGGCAGAGTACAGTGGCATGATCATGGCTCACCGCAGCCTCAAATTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTATATACCAGGGACTACAGGCACATGCCACCATGCCCGGCTATTTTTCCATTTTTTTGTAGAGACGAGGTCTTAGCTGTTTCCCAGGATGAGAATAGATCTTAAATGTTCACAGCACACACGCGCGCGCGCGCGCGCGCACACACACACACACACACACATGCAAATGATAACTGTATGAGATGAAGGTTATGTTAATTATTTTGGTTGTGGTAATCATTTCAGAATGTATACATATATCAAAACATTACGTTGTACATCGTTATGATATACAATCTTTGTCAATTATACCTCAATAAAACTGGAAAAATAAATAAGATTTTAACTCAAATGTCACTTGCTTAGAGATGTCTTCTCTCACCCAAGTCACTCTATCACATTGCCTTCCTAGCAATTAAAACTACCTGAGATTATTGCCTTTTTTGGTCTATTTTCTCTCTCCATTCTAAAATGTGTCTGCCGTGAGAGGGGAGATCGTGTCTGTTTTGTTTTCTTTGTGCCCCCAGAGCCTAGAATACTGTCTGGCATTTTAAAGTACACAATAAATGTTTGTTGAATAAATGAATGGATTTGTTAGTTTTGTGCCCATTTCACAAAGGGGCAAAGTGAGGCCTTTGAGAGCCAGAAGCTCTAGGTCAGTGACTGTCCTAGTCTATCCAAGCACAGAGCAGCTCTGGTTAGTGTCTGCTCAATTCCTCTCCCCTCGCCCAAACGTCCCTGAGTTGCGGCCTCGCTCCTGACCGAAATCCCCGCGGGTTCTCCTCGCAGTGTCTACTGGATCCCGCCAGGAGGCAGCAGAGGCGCCAGCACCCAGTCCGACGGGACAGCGGACCGGAGGGGGTTTCCGCTTCCGGGAGAGGCTGACCGTTTCCGCTTCCGTCCACTTGGCGAGTGAGACGCTGATGGGAGGGTGGACGTACTGGTGTCTGAGTGCTCCGCGCGGCTGCTGCAGCAGGTTTGGACGCAGGAGACCGGCGGGAAGGCCTGAAAGAGATGGAGCAGGCTCTGACTCCTGCCCAAGCGGCTTCGGGGGCGGGACAGCTAGGCGAGGACCATCCTGGTCCTCTCAGAGTGGAGCGGCACGGTCCCTGTGGGAACAGGAAGGGTTGAGAGAGGAAGCACCCATCATTTCAAAGCCCGTGTGACTGTGATTTTCAGCGGAATGGAGGGTCCCCACCCTCTCCCAGGCCTCCCCCAAACCAGCGTCTTCGGTGGGCTGGAGCCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCTGCATACACACGCGATTTAGGGGATGCGGGGAGATAGACAAGGGGGGAATACATTCAGAGCTCTGGGTCTTGGTTTGCAGCTCAGCCGCAGTTCTTCCCGGGTTACTGAGCGAGAGGATTCCTAATAAGCCCATGGGGTGATTCATTATCAGACCAGCGGAGCTTGCTCTGTGCCCTCAGCATTCGTCGGGAAGGAGCAGCCACACCATATAAAAGTGAAAGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTGAAAATACAAAAAAACTTAACCGGCTGTGTTGGGGGGGGTCCCTGTATTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCACACCACTGCACCACAGCCTGGGCGACAGAGTGAGACTCCGTCCCCCTACAAAAAAAAAAAGTGAAAGCGGAACAGTTCCATTACCTTTTATGCCCAGGTGGGGAGGGATGGTAGGAAGATAGTTCACAGTACTCTGTCCTGTTACGGCTGTATACTTAATCAGCAGTCACAAAGTACAAGTTAGTCAAGTAAATTGGCAAGCTCTTTACATTTCTGAGCCATTTATTTATCGGTATGTATTTATCTTTGCCTCACTTGGTTGTGATAATCATGAAGGTAATTTCTGAAAAGTGTTTTTAGCTCAGCTCCTGGAACATAATGTATGCTCATTTTTGGCAATTTGGTTTTGGCTGTAGCTATCTCCCAGTAAGTATTCTGAAATTTCAGGTGAGGAACTCCCCCTGAGTTTTGCAGTTTAAGTTGGAAGCTTTATTTCTTTCTGAATTGACATGTCTTTAGTTTTAGATGTTAAACTACAAAGCCTGGTCTGGTCTAGTCTAGGACCTAAGACACTGGAAACAGGAAGAAATGGGAAAATTGTTTAGTCCCAGAAAGGGTGAAAGGCAGACCCTTGAGCTATTTTGAATGTGACAAAGGACATTTGGGTTTTTTAAGAGTCCCAGGTCATAGGATTTGGGAATAAAAGCAGGTTGGTCAACCTGAAACTTAACTACTCTTGCTAAATCAGAGTGTTTATCGAGCCAAAGAAAAGAACTAGGGATATGAGACATGAGGCATATCCCATTATATACTTACTCCGATTCCTGTCTCCCAAAACACATGTATGTGTGGTTAATATATTCTTTTTCTTTTTCTTTTTTTTTGAAACAGAGTCTCGCTCTGTCAAGCAGACTGGAGTGCAGTGGCACGATCTCGACTCACCGCAACCTCAGCCTCTGGGATTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTATGTTTGCCATGCTGGTCTTGAACTCTTGGCCTCAAGTCATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAATATTTTCTTATTAAGGATAATATGCTAACGTCAGCAAAAATCTCAGAGGAGAAAGAAACACAGCTCATCAAAGGGAACATTAATGATTCCCATGGTCTATGCCACGCCTTGGTAGAG
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Task1_train_9811
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The gene RARS1 (arginyl-tRNA synthetase 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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ATAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTCTCCTATATAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATGTTTTGTATTTTTGGTAGAGACGATGTTTCACCATTTTTTCCAGGCTGGTCTTGGACTCCTGGGCTCAAGAAATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGACATGAGCCACTGTGCCTAGCTCGATGTCAACTTTTAAAAGTATACACTGGGATATGAATTTTTAAAATACTTTTATGAGGCACGGAAGCGAAAACGTTTAGAGTGCTACTTTCTAAGTTCTGGAGTCATAGAGAAGAGTGAACAAGATAATTAAGGTCCCTGCCCTCTTAGAACATATATCCCAGGTTTGCTGTTTATAATTTTAACTCAATATATATACAATGAAATATTATTCAGCCTTATAAAAGAAAACCCTGTTATGGGTGACAACATAGATGAACCTGGAGAACATTATGTTGGTGCAATAAGCCGGGCACAGAAAGACAAATACTACATTAGCCCATGTATATGTGTAATCTAAAAAATTCAGATTCATAGAAGCAGAGCATAGAATGGTGGTTGTCAGGGCTTCAGAGGTAGGAAAGATGGGAGATGTTGCTCAAAGTTACAAAGTTTCAGTTAGGCGGGATGAATAGATTCTAGAGATGTAATGTATATTGTATACTTGCAGTTTTCGTTTTCGTTTCGTTTTGTTTGTTTTTAAATAGAGAGAGAAAAGGTCTCACTCTGTCATCCAGGCAGAGTACAGTGGCATGATCATGGCTCACCGCAGCCTCAAATTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTATATACCAGGGACTACAGGCACATGCCACCATGCCCGGCTATTTTTCCATTTTTTTGTAGAGACGAGGTCTTAGCTGTTTCCCAGGATGAGAATAGATCTTAAATGTTCACAGCACACACGCGCGCGCGCGCGCGCGCACACACACACACACACACACATGCAAATGATAACTGTATGAGATGAAGGTTATGTTAATTATTTTGGTTGTGGTAATCATTTCAGAATGTATACATATATCAAAACATTACGTTGTACATCGTTATGATATACAATCTTTGTCAATTATACCTCAATAAAACTGGAAAAATAAATAAGATTTTAACTCAAATGTCACTTGCTTAGAGATGTCTTCTCTCACCCAAGTCACTCTATCACATTGCCTTCCTAGCAATTAAAACTACCTGAGATTATTGCCTTTTTTGGTCTATTTTCTCTCTCCATTCTAAAATGTGTCTGCCGTGAGAGGGGAGATCGTGTCTGTTTTGTTTTCTTTGTGCCCCCAGAGCCTAGAATACTGTCTGGCATTTTAAAGTACACAATAAATGTTTGTTGAATAAATGAATGGATTTGTTAGTTTTGTGCCCATTTCACAAAGGGGCAAAGTGAGGCCTTTGAGAGCCAGAAGCTCTAGGTCAGTGACTGTCCTAGTCTATCCAAGCACAGAGCAGCTCTGGTTAGTGTCTGCTCAATTCCTCTCCCCTCGCCCAAACGTCCCTGAGTTGCGGCCTCGCTCCTGACCGAAATCCCCGCGGGTTCTCCTCGCAGTGTCTACTGGATCCCGCCAGGAGGCAGCAGAGGCGCCAGCACCCAGTCCGACGGGACAGCGGACCGGAGGGGGTTTCCGCTTCCGGGAGAGGCTGACCGTTTCCGCTTCCGTCCACTTGGCGAGTGAGACGCTGATGGGAGGATGGACGTACTGGTGTCTGAGTGCTCCGCGCGGCTGCTGCAGCAGGTTTGGACGCAGGAGACCGGCGGGAAGGCCTGAAAGAGATGGAGCAGGCTCTGACTCCTGCCCAAGCGGCTTCGGGGGCGGGACAGCTAGGCGAGGACCATCCTGGTCCTCTCAGAGTGGAGCGGCACGGTCCCTGTGGGAACAGGAAGGGTTGAGAGAGGAAGCACCCATCATTTCAAAGCCCGTGTGACTGTGATTTTCAGCGGAATGGAGGGTCCCCACCCTCTCCCAGGCCTCCCCCAAACCAGCGTCTTCGGTGGGCTGGAGCCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCTGCATACACACGCGATTTAGGGGATGCGGGGAGATAGACAAGGGGGGAATACATTCAGAGCTCTGGGTCTTGGTTTGCAGCTCAGCCGCAGTTCTTCCCGGGTTACTGAGCGAGAGGATTCCTAATAAGCCCATGGGGTGATTCATTATCAGACCAGCGGAGCTTGCTCTGTGCCCTCAGCATTCGTCGGGAAGGAGCAGCCACACCATATAAAAGTGAAAGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTGAAAATACAAAAAAACTTAACCGGCTGTGTTGGGGGGGGTCCCTGTATTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCACACCACTGCACCACAGCCTGGGCGACAGAGTGAGACTCCGTCCCCCTACAAAAAAAAAAAGTGAAAGCGGAACAGTTCCATTACCTTTTATGCCCAGGTGGGGAGGGATGGTAGGAAGATAGTTCACAGTACTCTGTCCTGTTACGGCTGTATACTTAATCAGCAGTCACAAAGTACAAGTTAGTCAAGTAAATTGGCAAGCTCTTTACATTTCTGAGCCATTTATTTATCGGTATGTATTTATCTTTGCCTCACTTGGTTGTGATAATCATGAAGGTAATTTCTGAAAAGTGTTTTTAGCTCAGCTCCTGGAACATAATGTATGCTCATTTTTGGCAATTTGGTTTTGGCTGTAGCTATCTCCCAGTAAGTATTCTGAAATTTCAGGTGAGGAACTCCCCCTGAGTTTTGCAGTTTAAGTTGGAAGCTTTATTTCTTTCTGAATTGACATGTCTTTAGTTTTAGATGTTAAACTACAAAGCCTGGTCTGGTCTAGTCTAGGACCTAAGACACTGGAAACAGGAAGAAATGGGAAAATTGTTTAGTCCCAGAAAGGGTGAAAGGCAGACCCTTGAGCTATTTTGAATGTGACAAAGGACATTTGGGTTTTTTAAGAGTCCCAGGTCATAGGATTTGGGAATAAAAGCAGGTTGGTCAACCTGAAACTTAACTACTCTTGCTAAATCAGAGTGTTTATCGAGCCAAAGAAAAGAACTAGGGATATGAGACATGAGGCATATCCCATTATATACTTACTCCGATTCCTGTCTCCCAAAACACATGTATGTGTGGTTAATATATTCTTTTTCTTTTTCTTTTTTTTTGAAACAGAGTCTCGCTCTGTCAAGCAGACTGGAGTGCAGTGGCACGATCTCGACTCACCGCAACCTCAGCCTCTGGGATTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTATGTTTGCCATGCTGGTCTTGAACTCTTGGCCTCAAGTCATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAATATTTTCTTATTAAGGATAATATGCTAACGTCAGCAAAAATCTCAGAGGAGAAAGAAACACAGCTCATCAAAGGGAACATTAATGATTCCCATGGTCTATGCCACGCCTTGGTAGAGA
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ATAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTCTCCTATATAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATGTTTTGTATTTTTGGTAGAGACGATGTTTCACCATTTTTTCCAGGCTGGTCTTGGACTCCTGGGCTCAAGAAATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGACATGAGCCACTGTGCCTAGCTCGATGTCAACTTTTAAAAGTATACACTGGGATATGAATTTTTAAAATACTTTTATGAGGCACGGAAGCGAAAACGTTTAGAGTGCTACTTTCTAAGTTCTGGAGTCATAGAGAAGAGTGAACAAGATAATTAAGGTCCCTGCCCTCTTAGAACATATATCCCAGGTTTGCTGTTTATAATTTTAACTCAATATATATACAATGAAATATTATTCAGCCTTATAAAAGAAAACCCTGTTATGGGTGACAACATAGATGAACCTGGAGAACATTATGTTGGTGCAATAAGCCGGGCACAGAAAGACAAATACTACATTAGCCCATGTATATGTGTAATCTAAAAAATTCAGATTCATAGAAGCAGAGCATAGAATGGTGGTTGTCAGGGCTTCAGAGGTAGGAAAGATGGGAGATGTTGCTCAAAGTTACAAAGTTTCAGTTAGGCGGGATGAATAGATTCTAGAGATGTAATGTATATTGTATACTTGCAGTTTTCGTTTTCGTTTCGTTTTGTTTGTTTTTAAATAGAGAGAGAAAAGGTCTCACTCTGTCATCCAGGCAGAGTACAGTGGCATGATCATGGCTCACCGCAGCCTCAAATTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTATATACCAGGGACTACAGGCACATGCCACCATGCCCGGCTATTTTTCCATTTTTTTGTAGAGACGAGGTCTTAGCTGTTTCCCAGGATGAGAATAGATCTTAAATGTTCACAGCACACACGCGCGCGCGCGCGCGCGCACACACACACACACACACACATGCAAATGATAACTGTATGAGATGAAGGTTATGTTAATTATTTTGGTTGTGGTAATCATTTCAGAATGTATACATATATCAAAACATTACGTTGTACATCGTTATGATATACAATCTTTGTCAATTATACCTCAATAAAACTGGAAAAATAAATAAGATTTTAACTCAAATGTCACTTGCTTAGAGATGTCTTCTCTCACCCAAGTCACTCTATCACATTGCCTTCCTAGCAATTAAAACTACCTGAGATTATTGCCTTTTTTGGTCTATTTTCTCTCTCCATTCTAAAATGTGTCTGCCGTGAGAGGGGAGATCGTGTCTGTTTTGTTTTCTTTGTGCCCCCAGAGCCTAGAATACTGTCTGGCATTTTAAAGTACACAATAAATGTTTGTTGAATAAATGAATGGATTTGTTAGTTTTGTGCCCATTTCACAAAGGGGCAAAGTGAGGCCTTTGAGAGCCAGAAGCTCTAGGTCAGTGACTGTCCTAGTCTATCCAAGCACAGAGCAGCTCTGGTTAGTGTCTGCTCAATTCCTCTCCCCTCGCCCAAACGTCCCTGAGTTGCGGCCTCGCTCCTGACCGAAATCCCCGCGGGTTCTCCTCGCAGTGTCTACTGGATCCCGCCAGGAGGCAGCAGAGGCGCCAGCACCCAGTCCGACGGGACAGCGGACCGGAGGGGGTTTCCGCTTCCGGGAGAGGCTGACCGTTTCCGCTTCCGTCCACTTGGCGAGTGAGACGCTGATGGGAGGAAGGACGTACTGGTGTCTGAGTGCTCCGCGCGGCTGCTGCAGCAGGTTTGGACGCAGGAGACCGGCGGGAAGGCCTGAAAGAGATGGAGCAGGCTCTGACTCCTGCCCAAGCGGCTTCGGGGGCGGGACAGCTAGGCGAGGACCATCCTGGTCCTCTCAGAGTGGAGCGGCACGGTCCCTGTGGGAACAGGAAGGGTTGAGAGAGGAAGCACCCATCATTTCAAAGCCCGTGTGACTGTGATTTTCAGCGGAATGGAGGGTCCCCACCCTCTCCCAGGCCTCCCCCAAACCAGCGTCTTCGGTGGGCTGGAGCCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCTGCATACACACGCGATTTAGGGGATGCGGGGAGATAGACAAGGGGGGAATACATTCAGAGCTCTGGGTCTTGGTTTGCAGCTCAGCCGCAGTTCTTCCCGGGTTACTGAGCGAGAGGATTCCTAATAAGCCCATGGGGTGATTCATTATCAGACCAGCGGAGCTTGCTCTGTGCCCTCAGCATTCGTCGGGAAGGAGCAGCCACACCATATAAAAGTGAAAGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTGAAAATACAAAAAAACTTAACCGGCTGTGTTGGGGGGGGTCCCTGTATTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCACACCACTGCACCACAGCCTGGGCGACAGAGTGAGACTCCGTCCCCCTACAAAAAAAAAAAGTGAAAGCGGAACAGTTCCATTACCTTTTATGCCCAGGTGGGGAGGGATGGTAGGAAGATAGTTCACAGTACTCTGTCCTGTTACGGCTGTATACTTAATCAGCAGTCACAAAGTACAAGTTAGTCAAGTAAATTGGCAAGCTCTTTACATTTCTGAGCCATTTATTTATCGGTATGTATTTATCTTTGCCTCACTTGGTTGTGATAATCATGAAGGTAATTTCTGAAAAGTGTTTTTAGCTCAGCTCCTGGAACATAATGTATGCTCATTTTTGGCAATTTGGTTTTGGCTGTAGCTATCTCCCAGTAAGTATTCTGAAATTTCAGGTGAGGAACTCCCCCTGAGTTTTGCAGTTTAAGTTGGAAGCTTTATTTCTTTCTGAATTGACATGTCTTTAGTTTTAGATGTTAAACTACAAAGCCTGGTCTGGTCTAGTCTAGGACCTAAGACACTGGAAACAGGAAGAAATGGGAAAATTGTTTAGTCCCAGAAAGGGTGAAAGGCAGACCCTTGAGCTATTTTGAATGTGACAAAGGACATTTGGGTTTTTTAAGAGTCCCAGGTCATAGGATTTGGGAATAAAAGCAGGTTGGTCAACCTGAAACTTAACTACTCTTGCTAAATCAGAGTGTTTATCGAGCCAAAGAAAAGAACTAGGGATATGAGACATGAGGCATATCCCATTATATACTTACTCCGATTCCTGTCTCCCAAAACACATGTATGTGTGGTTAATATATTCTTTTTCTTTTTCTTTTTTTTTGAAACAGAGTCTCGCTCTGTCAAGCAGACTGGAGTGCAGTGGCACGATCTCGACTCACCGCAACCTCAGCCTCTGGGATTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTATGTTTGCCATGCTGGTCTTGAACTCTTGGCCTCAAGTCATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAATATTTTCTTATTAAGGATAATATGCTAACGTCAGCAAAAATCTCAGAGGAGAAAGAAACACAGCTCATCAAAGGGAACATTAATGATTCCCATGGTCTATGCCACGCCTTGGTAGAGA
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Task1_train_9812
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Given this variant in gene RARS1 (arginyl-tRNA synthetase 1) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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TAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTCTCCTATATAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATGTTTTGTATTTTTGGTAGAGACGATGTTTCACCATTTTTTCCAGGCTGGTCTTGGACTCCTGGGCTCAAGAAATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGACATGAGCCACTGTGCCTAGCTCGATGTCAACTTTTAAAAGTATACACTGGGATATGAATTTTTAAAATACTTTTATGAGGCACGGAAGCGAAAACGTTTAGAGTGCTACTTTCTAAGTTCTGGAGTCATAGAGAAGAGTGAACAAGATAATTAAGGTCCCTGCCCTCTTAGAACATATATCCCAGGTTTGCTGTTTATAATTTTAACTCAATATATATACAATGAAATATTATTCAGCCTTATAAAAGAAAACCCTGTTATGGGTGACAACATAGATGAACCTGGAGAACATTATGTTGGTGCAATAAGCCGGGCACAGAAAGACAAATACTACATTAGCCCATGTATATGTGTAATCTAAAAAATTCAGATTCATAGAAGCAGAGCATAGAATGGTGGTTGTCAGGGCTTCAGAGGTAGGAAAGATGGGAGATGTTGCTCAAAGTTACAAAGTTTCAGTTAGGCGGGATGAATAGATTCTAGAGATGTAATGTATATTGTATACTTGCAGTTTTCGTTTTCGTTTCGTTTTGTTTGTTTTTAAATAGAGAGAGAAAAGGTCTCACTCTGTCATCCAGGCAGAGTACAGTGGCATGATCATGGCTCACCGCAGCCTCAAATTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTATATACCAGGGACTACAGGCACATGCCACCATGCCCGGCTATTTTTCCATTTTTTTGTAGAGACGAGGTCTTAGCTGTTTCCCAGGATGAGAATAGATCTTAAATGTTCACAGCACACACGCGCGCGCGCGCGCGCGCACACACACACACACACACACATGCAAATGATAACTGTATGAGATGAAGGTTATGTTAATTATTTTGGTTGTGGTAATCATTTCAGAATGTATACATATATCAAAACATTACGTTGTACATCGTTATGATATACAATCTTTGTCAATTATACCTCAATAAAACTGGAAAAATAAATAAGATTTTAACTCAAATGTCACTTGCTTAGAGATGTCTTCTCTCACCCAAGTCACTCTATCACATTGCCTTCCTAGCAATTAAAACTACCTGAGATTATTGCCTTTTTTGGTCTATTTTCTCTCTCCATTCTAAAATGTGTCTGCCGTGAGAGGGGAGATCGTGTCTGTTTTGTTTTCTTTGTGCCCCCAGAGCCTAGAATACTGTCTGGCATTTTAAAGTACACAATAAATGTTTGTTGAATAAATGAATGGATTTGTTAGTTTTGTGCCCATTTCACAAAGGGGCAAAGTGAGGCCTTTGAGAGCCAGAAGCTCTAGGTCAGTGACTGTCCTAGTCTATCCAAGCACAGAGCAGCTCTGGTTAGTGTCTGCTCAATTCCTCTCCCCTCGCCCAAACGTCCCTGAGTTGCGGCCTCGCTCCTGACCGAAATCCCCGCGGGTTCTCCTCGCAGTGTCTACTGGATCCCGCCAGGAGGCAGCAGAGGCGCCAGCACCCAGTCCGACGGGACAGCGGACCGGAGGGGGTTTCCGCTTCCGGGAGAGGCTGACCGTTTCCGCTTCCGTCCACTTGGCGAGTGAGACGCTGATGGGAGGATGGACGTACTGGTGTCTGAGTGCTCCGCGCGGCTGCTGCAGCAGGTTTGGACGCAGGAGACCGGCGGGAAGGCCTGAAAGAGATGGAGCAGGCTCTGACTCCTGCCCAAGCGGCTTCGGGGGCGGGACAGCTAGGCGAGGACCATCCTGGTCCTCTCAGAGTGGAGCGGCACGGTCCCTGTGGGAACAGGAAGGGTTGAGAGAGGAAGCACCCATCATTTCAAAGCCCGTGTGACTGTGATTTTCAGCGGAATGGAGGGTCCCCACCCTCTCCCAGGCCTCCCCCAAACCAGCGTCTTCGGTGGGCTGGAGCCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCTGCATACACACGCGATTTAGGGGATGCGGGGAGATAGACAAGGGGGGAATACATTCAGAGCTCTGGGTCTTGGTTTGCAGCTCAGCCGCAGTTCTTCCCGGGTTACTGAGCGAGAGGATTCCTAATAAGCCCATGGGGTGATTCATTATCAGACCAGCGGAGCTTGCTCTGTGCCCTCAGCATTCGTCGGGAAGGAGCAGCCACACCATATAAAAGTGAAAGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTGAAAATACAAAAAAACTTAACCGGCTGTGTTGGGGGGGGTCCCTGTATTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCACACCACTGCACCACAGCCTGGGCGACAGAGTGAGACTCCGTCCCCCTACAAAAAAAAAAAGTGAAAGCGGAACAGTTCCATTACCTTTTATGCCCAGGTGGGGAGGGATGGTAGGAAGATAGTTCACAGTACTCTGTCCTGTTACGGCTGTATACTTAATCAGCAGTCACAAAGTACAAGTTAGTCAAGTAAATTGGCAAGCTCTTTACATTTCTGAGCCATTTATTTATCGGTATGTATTTATCTTTGCCTCACTTGGTTGTGATAATCATGAAGGTAATTTCTGAAAAGTGTTTTTAGCTCAGCTCCTGGAACATAATGTATGCTCATTTTTGGCAATTTGGTTTTGGCTGTAGCTATCTCCCAGTAAGTATTCTGAAATTTCAGGTGAGGAACTCCCCCTGAGTTTTGCAGTTTAAGTTGGAAGCTTTATTTCTTTCTGAATTGACATGTCTTTAGTTTTAGATGTTAAACTACAAAGCCTGGTCTGGTCTAGTCTAGGACCTAAGACACTGGAAACAGGAAGAAATGGGAAAATTGTTTAGTCCCAGAAAGGGTGAAAGGCAGACCCTTGAGCTATTTTGAATGTGACAAAGGACATTTGGGTTTTTTAAGAGTCCCAGGTCATAGGATTTGGGAATAAAAGCAGGTTGGTCAACCTGAAACTTAACTACTCTTGCTAAATCAGAGTGTTTATCGAGCCAAAGAAAAGAACTAGGGATATGAGACATGAGGCATATCCCATTATATACTTACTCCGATTCCTGTCTCCCAAAACACATGTATGTGTGGTTAATATATTCTTTTTCTTTTTCTTTTTTTTTGAAACAGAGTCTCGCTCTGTCAAGCAGACTGGAGTGCAGTGGCACGATCTCGACTCACCGCAACCTCAGCCTCTGGGATTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTATGTTTGCCATGCTGGTCTTGAACTCTTGGCCTCAAGTCATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAATATTTTCTTATTAAGGATAATATGCTAACGTCAGCAAAAATCTCAGAGGAGAAAGAAACACAGCTCATCAAAGGGAACATTAATGATTCCCATGGTCTATGCCACGCCTTGGTAGAGAG
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TAATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTCTCCTATATAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATGTTTTGTATTTTTGGTAGAGACGATGTTTCACCATTTTTTCCAGGCTGGTCTTGGACTCCTGGGCTCAAGAAATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGACATGAGCCACTGTGCCTAGCTCGATGTCAACTTTTAAAAGTATACACTGGGATATGAATTTTTAAAATACTTTTATGAGGCACGGAAGCGAAAACGTTTAGAGTGCTACTTTCTAAGTTCTGGAGTCATAGAGAAGAGTGAACAAGATAATTAAGGTCCCTGCCCTCTTAGAACATATATCCCAGGTTTGCTGTTTATAATTTTAACTCAATATATATACAATGAAATATTATTCAGCCTTATAAAAGAAAACCCTGTTATGGGTGACAACATAGATGAACCTGGAGAACATTATGTTGGTGCAATAAGCCGGGCACAGAAAGACAAATACTACATTAGCCCATGTATATGTGTAATCTAAAAAATTCAGATTCATAGAAGCAGAGCATAGAATGGTGGTTGTCAGGGCTTCAGAGGTAGGAAAGATGGGAGATGTTGCTCAAAGTTACAAAGTTTCAGTTAGGCGGGATGAATAGATTCTAGAGATGTAATGTATATTGTATACTTGCAGTTTTCGTTTTCGTTTCGTTTTGTTTGTTTTTAAATAGAGAGAGAAAAGGTCTCACTCTGTCATCCAGGCAGAGTACAGTGGCATGATCATGGCTCACCGCAGCCTCAAATTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTATATACCAGGGACTACAGGCACATGCCACCATGCCCGGCTATTTTTCCATTTTTTTGTAGAGACGAGGTCTTAGCTGTTTCCCAGGATGAGAATAGATCTTAAATGTTCACAGCACACACGCGCGCGCGCGCGCGCGCACACACACACACACACACACATGCAAATGATAACTGTATGAGATGAAGGTTATGTTAATTATTTTGGTTGTGGTAATCATTTCAGAATGTATACATATATCAAAACATTACGTTGTACATCGTTATGATATACAATCTTTGTCAATTATACCTCAATAAAACTGGAAAAATAAATAAGATTTTAACTCAAATGTCACTTGCTTAGAGATGTCTTCTCTCACCCAAGTCACTCTATCACATTGCCTTCCTAGCAATTAAAACTACCTGAGATTATTGCCTTTTTTGGTCTATTTTCTCTCTCCATTCTAAAATGTGTCTGCCGTGAGAGGGGAGATCGTGTCTGTTTTGTTTTCTTTGTGCCCCCAGAGCCTAGAATACTGTCTGGCATTTTAAAGTACACAATAAATGTTTGTTGAATAAATGAATGGATTTGTTAGTTTTGTGCCCATTTCACAAAGGGGCAAAGTGAGGCCTTTGAGAGCCAGAAGCTCTAGGTCAGTGACTGTCCTAGTCTATCCAAGCACAGAGCAGCTCTGGTTAGTGTCTGCTCAATTCCTCTCCCCTCGCCCAAACGTCCCTGAGTTGCGGCCTCGCTCCTGACCGAAATCCCCGCGGGTTCTCCTCGCAGTGTCTACTGGATCCCGCCAGGAGGCAGCAGAGGCGCCAGCACCCAGTCCGACGGGACAGCGGACCGGAGGGGGTTTCCGCTTCCGGGAGAGGCTGACCGTTTCCGCTTCCGTCCACTTGGCGAGTGAGACGCTGATGGGAGGATTGACGTACTGGTGTCTGAGTGCTCCGCGCGGCTGCTGCAGCAGGTTTGGACGCAGGAGACCGGCGGGAAGGCCTGAAAGAGATGGAGCAGGCTCTGACTCCTGCCCAAGCGGCTTCGGGGGCGGGACAGCTAGGCGAGGACCATCCTGGTCCTCTCAGAGTGGAGCGGCACGGTCCCTGTGGGAACAGGAAGGGTTGAGAGAGGAAGCACCCATCATTTCAAAGCCCGTGTGACTGTGATTTTCAGCGGAATGGAGGGTCCCCACCCTCTCCCAGGCCTCCCCCAAACCAGCGTCTTCGGTGGGCTGGAGCCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCTGCATACACACGCGATTTAGGGGATGCGGGGAGATAGACAAGGGGGGAATACATTCAGAGCTCTGGGTCTTGGTTTGCAGCTCAGCCGCAGTTCTTCCCGGGTTACTGAGCGAGAGGATTCCTAATAAGCCCATGGGGTGATTCATTATCAGACCAGCGGAGCTTGCTCTGTGCCCTCAGCATTCGTCGGGAAGGAGCAGCCACACCATATAAAAGTGAAAGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTGAAAATACAAAAAAACTTAACCGGCTGTGTTGGGGGGGGTCCCTGTATTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCACACCACTGCACCACAGCCTGGGCGACAGAGTGAGACTCCGTCCCCCTACAAAAAAAAAAAGTGAAAGCGGAACAGTTCCATTACCTTTTATGCCCAGGTGGGGAGGGATGGTAGGAAGATAGTTCACAGTACTCTGTCCTGTTACGGCTGTATACTTAATCAGCAGTCACAAAGTACAAGTTAGTCAAGTAAATTGGCAAGCTCTTTACATTTCTGAGCCATTTATTTATCGGTATGTATTTATCTTTGCCTCACTTGGTTGTGATAATCATGAAGGTAATTTCTGAAAAGTGTTTTTAGCTCAGCTCCTGGAACATAATGTATGCTCATTTTTGGCAATTTGGTTTTGGCTGTAGCTATCTCCCAGTAAGTATTCTGAAATTTCAGGTGAGGAACTCCCCCTGAGTTTTGCAGTTTAAGTTGGAAGCTTTATTTCTTTCTGAATTGACATGTCTTTAGTTTTAGATGTTAAACTACAAAGCCTGGTCTGGTCTAGTCTAGGACCTAAGACACTGGAAACAGGAAGAAATGGGAAAATTGTTTAGTCCCAGAAAGGGTGAAAGGCAGACCCTTGAGCTATTTTGAATGTGACAAAGGACATTTGGGTTTTTTAAGAGTCCCAGGTCATAGGATTTGGGAATAAAAGCAGGTTGGTCAACCTGAAACTTAACTACTCTTGCTAAATCAGAGTGTTTATCGAGCCAAAGAAAAGAACTAGGGATATGAGACATGAGGCATATCCCATTATATACTTACTCCGATTCCTGTCTCCCAAAACACATGTATGTGTGGTTAATATATTCTTTTTCTTTTTCTTTTTTTTTGAAACAGAGTCTCGCTCTGTCAAGCAGACTGGAGTGCAGTGGCACGATCTCGACTCACCGCAACCTCAGCCTCTGGGATTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTATGTTTGCCATGCTGGTCTTGAACTCTTGGCCTCAAGTCATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAATATTTTCTTATTAAGGATAATATGCTAACGTCAGCAAAAATCTCAGAGGAGAAAGAAACACAGCTCATCAAAGGGAACATTAATGATTCCCATGGTCTATGCCACGCCTTGGTAGAGAG
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Task1_train_9813
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This variant impacts the gene RARS1 (arginyl-tRNA synthetase 1) on Chromosome 5. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hypomyelinating leukodystrophy 9
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ATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTCTCCTATATAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATGTTTTGTATTTTTGGTAGAGACGATGTTTCACCATTTTTTCCAGGCTGGTCTTGGACTCCTGGGCTCAAGAAATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGACATGAGCCACTGTGCCTAGCTCGATGTCAACTTTTAAAAGTATACACTGGGATATGAATTTTTAAAATACTTTTATGAGGCACGGAAGCGAAAACGTTTAGAGTGCTACTTTCTAAGTTCTGGAGTCATAGAGAAGAGTGAACAAGATAATTAAGGTCCCTGCCCTCTTAGAACATATATCCCAGGTTTGCTGTTTATAATTTTAACTCAATATATATACAATGAAATATTATTCAGCCTTATAAAAGAAAACCCTGTTATGGGTGACAACATAGATGAACCTGGAGAACATTATGTTGGTGCAATAAGCCGGGCACAGAAAGACAAATACTACATTAGCCCATGTATATGTGTAATCTAAAAAATTCAGATTCATAGAAGCAGAGCATAGAATGGTGGTTGTCAGGGCTTCAGAGGTAGGAAAGATGGGAGATGTTGCTCAAAGTTACAAAGTTTCAGTTAGGCGGGATGAATAGATTCTAGAGATGTAATGTATATTGTATACTTGCAGTTTTCGTTTTCGTTTCGTTTTGTTTGTTTTTAAATAGAGAGAGAAAAGGTCTCACTCTGTCATCCAGGCAGAGTACAGTGGCATGATCATGGCTCACCGCAGCCTCAAATTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTATATACCAGGGACTACAGGCACATGCCACCATGCCCGGCTATTTTTCCATTTTTTTGTAGAGACGAGGTCTTAGCTGTTTCCCAGGATGAGAATAGATCTTAAATGTTCACAGCACACACGCGCGCGCGCGCGCGCGCACACACACACACACACACACATGCAAATGATAACTGTATGAGATGAAGGTTATGTTAATTATTTTGGTTGTGGTAATCATTTCAGAATGTATACATATATCAAAACATTACGTTGTACATCGTTATGATATACAATCTTTGTCAATTATACCTCAATAAAACTGGAAAAATAAATAAGATTTTAACTCAAATGTCACTTGCTTAGAGATGTCTTCTCTCACCCAAGTCACTCTATCACATTGCCTTCCTAGCAATTAAAACTACCTGAGATTATTGCCTTTTTTGGTCTATTTTCTCTCTCCATTCTAAAATGTGTCTGCCGTGAGAGGGGAGATCGTGTCTGTTTTGTTTTCTTTGTGCCCCCAGAGCCTAGAATACTGTCTGGCATTTTAAAGTACACAATAAATGTTTGTTGAATAAATGAATGGATTTGTTAGTTTTGTGCCCATTTCACAAAGGGGCAAAGTGAGGCCTTTGAGAGCCAGAAGCTCTAGGTCAGTGACTGTCCTAGTCTATCCAAGCACAGAGCAGCTCTGGTTAGTGTCTGCTCAATTCCTCTCCCCTCGCCCAAACGTCCCTGAGTTGCGGCCTCGCTCCTGACCGAAATCCCCGCGGGTTCTCCTCGCAGTGTCTACTGGATCCCGCCAGGAGGCAGCAGAGGCGCCAGCACCCAGTCCGACGGGACAGCGGACCGGAGGGGGTTTCCGCTTCCGGGAGAGGCTGACCGTTTCCGCTTCCGTCCACTTGGCGAGTGAGACGCTGATGGGAGGATGGACGTACTGGTGTCTGAGTGCTCCGCGCGGCTGCTGCAGCAGGTTTGGACGCAGGAGACCGGCGGGAAGGCCTGAAAGAGATGGAGCAGGCTCTGACTCCTGCCCAAGCGGCTTCGGGGGCGGGACAGCTAGGCGAGGACCATCCTGGTCCTCTCAGAGTGGAGCGGCACGGTCCCTGTGGGAACAGGAAGGGTTGAGAGAGGAAGCACCCATCATTTCAAAGCCCGTGTGACTGTGATTTTCAGCGGAATGGAGGGTCCCCACCCTCTCCCAGGCCTCCCCCAAACCAGCGTCTTCGGTGGGCTGGAGCCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCTGCATACACACGCGATTTAGGGGATGCGGGGAGATAGACAAGGGGGGAATACATTCAGAGCTCTGGGTCTTGGTTTGCAGCTCAGCCGCAGTTCTTCCCGGGTTACTGAGCGAGAGGATTCCTAATAAGCCCATGGGGTGATTCATTATCAGACCAGCGGAGCTTGCTCTGTGCCCTCAGCATTCGTCGGGAAGGAGCAGCCACACCATATAAAAGTGAAAGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTGAAAATACAAAAAAACTTAACCGGCTGTGTTGGGGGGGGTCCCTGTATTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCACACCACTGCACCACAGCCTGGGCGACAGAGTGAGACTCCGTCCCCCTACAAAAAAAAAAAGTGAAAGCGGAACAGTTCCATTACCTTTTATGCCCAGGTGGGGAGGGATGGTAGGAAGATAGTTCACAGTACTCTGTCCTGTTACGGCTGTATACTTAATCAGCAGTCACAAAGTACAAGTTAGTCAAGTAAATTGGCAAGCTCTTTACATTTCTGAGCCATTTATTTATCGGTATGTATTTATCTTTGCCTCACTTGGTTGTGATAATCATGAAGGTAATTTCTGAAAAGTGTTTTTAGCTCAGCTCCTGGAACATAATGTATGCTCATTTTTGGCAATTTGGTTTTGGCTGTAGCTATCTCCCAGTAAGTATTCTGAAATTTCAGGTGAGGAACTCCCCCTGAGTTTTGCAGTTTAAGTTGGAAGCTTTATTTCTTTCTGAATTGACATGTCTTTAGTTTTAGATGTTAAACTACAAAGCCTGGTCTGGTCTAGTCTAGGACCTAAGACACTGGAAACAGGAAGAAATGGGAAAATTGTTTAGTCCCAGAAAGGGTGAAAGGCAGACCCTTGAGCTATTTTGAATGTGACAAAGGACATTTGGGTTTTTTAAGAGTCCCAGGTCATAGGATTTGGGAATAAAAGCAGGTTGGTCAACCTGAAACTTAACTACTCTTGCTAAATCAGAGTGTTTATCGAGCCAAAGAAAAGAACTAGGGATATGAGACATGAGGCATATCCCATTATATACTTACTCCGATTCCTGTCTCCCAAAACACATGTATGTGTGGTTAATATATTCTTTTTCTTTTTCTTTTTTTTTGAAACAGAGTCTCGCTCTGTCAAGCAGACTGGAGTGCAGTGGCACGATCTCGACTCACCGCAACCTCAGCCTCTGGGATTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTATGTTTGCCATGCTGGTCTTGAACTCTTGGCCTCAAGTCATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAATATTTTCTTATTAAGGATAATATGCTAACGTCAGCAAAAATCTCAGAGGAGAAAGAAACACAGCTCATCAAAGGGAACATTAATGATTCCCATGGTCTATGCCACGCCTTGGTAGAGAGGG
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ATTTGGATTATTTAATTGGACAAAGAGGACTGGCTTTGCCAATGAAACAATATGGCCGACATGTTCCATAAATTGGACAAGCTAAACTTGCAAATCCACAGTTTTGACGAAAATATAGTGAGAGCACTTATGAAACATCATGCCAGAAAATAATCCATTCCCAGAAGTTGTGAAAAGAGTTTTTAGATGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCCGTTGCCCAGGCTGGAGTGCAGTGGCCAGATCATGGCTCACTGCAACCTCAAACTCTTGGGTTTAAACAATCCTGCCTCCTAAGTCTCCTATATAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATGTTTTGTATTTTTGGTAGAGACGATGTTTCACCATTTTTTCCAGGCTGGTCTTGGACTCCTGGGCTCAAGAAATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGACATGAGCCACTGTGCCTAGCTCGATGTCAACTTTTAAAAGTATACACTGGGATATGAATTTTTAAAATACTTTTATGAGGCACGGAAGCGAAAACGTTTAGAGTGCTACTTTCTAAGTTCTGGAGTCATAGAGAAGAGTGAACAAGATAATTAAGGTCCCTGCCCTCTTAGAACATATATCCCAGGTTTGCTGTTTATAATTTTAACTCAATATATATACAATGAAATATTATTCAGCCTTATAAAAGAAAACCCTGTTATGGGTGACAACATAGATGAACCTGGAGAACATTATGTTGGTGCAATAAGCCGGGCACAGAAAGACAAATACTACATTAGCCCATGTATATGTGTAATCTAAAAAATTCAGATTCATAGAAGCAGAGCATAGAATGGTGGTTGTCAGGGCTTCAGAGGTAGGAAAGATGGGAGATGTTGCTCAAAGTTACAAAGTTTCAGTTAGGCGGGATGAATAGATTCTAGAGATGTAATGTATATTGTATACTTGCAGTTTTCGTTTTCGTTTCGTTTTGTTTGTTTTTAAATAGAGAGAGAAAAGGTCTCACTCTGTCATCCAGGCAGAGTACAGTGGCATGATCATGGCTCACCGCAGCCTCAAATTCTTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTATATACCAGGGACTACAGGCACATGCCACCATGCCCGGCTATTTTTCCATTTTTTTGTAGAGACGAGGTCTTAGCTGTTTCCCAGGATGAGAATAGATCTTAAATGTTCACAGCACACACGCGCGCGCGCGCGCGCGCACACACACACACACACACACATGCAAATGATAACTGTATGAGATGAAGGTTATGTTAATTATTTTGGTTGTGGTAATCATTTCAGAATGTATACATATATCAAAACATTACGTTGTACATCGTTATGATATACAATCTTTGTCAATTATACCTCAATAAAACTGGAAAAATAAATAAGATTTTAACTCAAATGTCACTTGCTTAGAGATGTCTTCTCTCACCCAAGTCACTCTATCACATTGCCTTCCTAGCAATTAAAACTACCTGAGATTATTGCCTTTTTTGGTCTATTTTCTCTCTCCATTCTAAAATGTGTCTGCCGTGAGAGGGGAGATCGTGTCTGTTTTGTTTTCTTTGTGCCCCCAGAGCCTAGAATACTGTCTGGCATTTTAAAGTACACAATAAATGTTTGTTGAATAAATGAATGGATTTGTTAGTTTTGTGCCCATTTCACAAAGGGGCAAAGTGAGGCCTTTGAGAGCCAGAAGCTCTAGGTCAGTGACTGTCCTAGTCTATCCAAGCACAGAGCAGCTCTGGTTAGTGTCTGCTCAATTCCTCTCCCCTCGCCCAAACGTCCCTGAGTTGCGGCCTCGCTCCTGACCGAAATCCCCGCGGGTTCTCCTCGCAGTGTCTACTGGATCCCGCCAGGAGGCAGCAGAGGCGCCAGCACCCAGTCCGACGGGACAGCGGACCGGAGGGGGTTTCCGCTTCCGGGAGAGGCTGACCGTTTCCGCTTCCGTCCACTTGGCGAGTGAGACGCTGATGGGAGGATGGGCGTACTGGTGTCTGAGTGCTCCGCGCGGCTGCTGCAGCAGGTTTGGACGCAGGAGACCGGCGGGAAGGCCTGAAAGAGATGGAGCAGGCTCTGACTCCTGCCCAAGCGGCTTCGGGGGCGGGACAGCTAGGCGAGGACCATCCTGGTCCTCTCAGAGTGGAGCGGCACGGTCCCTGTGGGAACAGGAAGGGTTGAGAGAGGAAGCACCCATCATTTCAAAGCCCGTGTGACTGTGATTTTCAGCGGAATGGAGGGTCCCCACCCTCTCCCAGGCCTCCCCCAAACCAGCGTCTTCGGTGGGCTGGAGCCTGGCATGTTCAGAACAGTTCTCTCCCTACAATCCACCTCCTCTTCTGCATACACACGCGATTTAGGGGATGCGGGGAGATAGACAAGGGGGGAATACATTCAGAGCTCTGGGTCTTGGTTTGCAGCTCAGCCGCAGTTCTTCCCGGGTTACTGAGCGAGAGGATTCCTAATAAGCCCATGGGGTGATTCATTATCAGACCAGCGGAGCTTGCTCTGTGCCCTCAGCATTCGTCGGGAAGGAGCAGCCACACCATATAAAAGTGAAAGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTGAAAATACAAAAAAACTTAACCGGCTGTGTTGGGGGGGGTCCCTGTATTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGAGCACACCACTGCACCACAGCCTGGGCGACAGAGTGAGACTCCGTCCCCCTACAAAAAAAAAAAGTGAAAGCGGAACAGTTCCATTACCTTTTATGCCCAGGTGGGGAGGGATGGTAGGAAGATAGTTCACAGTACTCTGTCCTGTTACGGCTGTATACTTAATCAGCAGTCACAAAGTACAAGTTAGTCAAGTAAATTGGCAAGCTCTTTACATTTCTGAGCCATTTATTTATCGGTATGTATTTATCTTTGCCTCACTTGGTTGTGATAATCATGAAGGTAATTTCTGAAAAGTGTTTTTAGCTCAGCTCCTGGAACATAATGTATGCTCATTTTTGGCAATTTGGTTTTGGCTGTAGCTATCTCCCAGTAAGTATTCTGAAATTTCAGGTGAGGAACTCCCCCTGAGTTTTGCAGTTTAAGTTGGAAGCTTTATTTCTTTCTGAATTGACATGTCTTTAGTTTTAGATGTTAAACTACAAAGCCTGGTCTGGTCTAGTCTAGGACCTAAGACACTGGAAACAGGAAGAAATGGGAAAATTGTTTAGTCCCAGAAAGGGTGAAAGGCAGACCCTTGAGCTATTTTGAATGTGACAAAGGACATTTGGGTTTTTTAAGAGTCCCAGGTCATAGGATTTGGGAATAAAAGCAGGTTGGTCAACCTGAAACTTAACTACTCTTGCTAAATCAGAGTGTTTATCGAGCCAAAGAAAAGAACTAGGGATATGAGACATGAGGCATATCCCATTATATACTTACTCCGATTCCTGTCTCCCAAAACACATGTATGTGTGGTTAATATATTCTTTTTCTTTTTCTTTTTTTTTGAAACAGAGTCTCGCTCTGTCAAGCAGACTGGAGTGCAGTGGCACGATCTCGACTCACCGCAACCTCAGCCTCTGGGATTCAGGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTATGTTTGCCATGCTGGTCTTGAACTCTTGGCCTCAAGTCATCCACCTGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAATATTTTCTTATTAAGGATAATATGCTAACGTCAGCAAAAATCTCAGAGGAGAAAGAAACACAGCTCATCAAAGGGAACATTAATGATTCCCATGGTCTATGCCACGCCTTGGTAGAGAGGG
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Task1_train_9814
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This mutation occurs in DOCK2 (dedicator of cytokinesis 2) on Chromosome 5. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; DOCK2 deficiency
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CTTTTCATGATGCTGTACCATCCAGATCTTCCTTCTTTTAGTCCTCCCCTATGGTCTTTTTGTCCTCTCCCTATCTCGACTCAGATTTTCTCAGTGTTATGTCAAAATAAACACAAGAAACATCTGCATTAGGGAATCAGTGCCCAACAAAGTTTTTAAGTGTTAACCCCTTGTGTCATGGATATTTGCATTTTTAAAGAGGTTACTGAGAGACAACTGTGGCTTAATCAAGTGCTTCCCCAGAGAGTACCCTAGAATGCTAGCTCTCAGAAAAGATGTTTCATGACAAATATATACTTTGATTAATTAATTTAGGGAAGTGTTGAATGTTGCATGACCCTTTTAGAGATTCACAATGTACATAAGTATATTAAAGATTCTAAAAAGTTTTGCAATAAGAAAGTCTAATAATGATAACCTGACATTTCTCAAAACCTATTTGACCATGAAATCCTTTTCATCTTATAACACCCCACAGCACACTTCATGAAACATTTTCTTTGGGAAGATGCTACCTTAATAAAGAGAACTCATTATGTATTAGTGAGCTAATTCCTGGGCAAAGGATTTTAATGGGGGTTGAATTATGCCAGGTAAAGATGGCTTCCTGCCCTGGGTTTGCCCTGAAAATACTGCTGCCTTGCATCTTCCTCAGATTTACATAATAGGACTCATTGCAGACCGGAAATTTCAGCATTTCAACACCGTTCTGGAGGCTTACATCCAACAGCATTTCAGTGCGACCTTGGCTTACAAGTAAGTAATTGTGCACATGGGAACTTCTTCTCTACCACCCTCTTGCCCTGCCAGGATGCCTAGGGCACAGGAACTTGAGTAATTTTCTTTTGTGACTCATCTGTGTGAGCTCTCCATTCTCTAACAAAATCTAACCTATGCTTGGGTTATTTGGATATCATTAAAAATGTGGAATACCCATAGGTTTGGATGAATGCCTTATGGTTGCAGTGGTACCTGGAAGTGCTCATTCATCCATTCAGCTAGCGTGCTCTCATTTCTTGAGTGGACACCAGGACTTAAAGGCTACAGAGAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAGATAGGTGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGTGGGAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGATTGCATTGTGCAGAGATCACACCACTGCACTCCAGCCTGGGTGACAGTAAGACTCATCTCAAAAACAAAACAAAACAAAACAAAACAAAAACAGCGGGGGAGCTACACAGAAGAAAGTGCACATGCCAAGTAGCTCAGTCTGGTTTGGGTGTAGGGAGAGGGTGAGAGATAGGAGATGATGCCACAGGGAGTTTGGTGGGGACCAGTTTGTGAAGGGGCCTTGAAAGTCAGGCCAAGTAATTTGAAGTCTGCCCTATGGTAAAGAAGAAACATAGAAAGTTCCTAAGCAAACTTAGAGTTCTGTGATATTACAAGAGCATGTTCTATAGAAAGAAAAAGTTGAAAAAAAAGACATTATTGCCACCATTATTCCCCATTATTCCCACTTGTAGCCTGATTGTGACTAGTTCTCCTAGTCAAAAGATTTTTTTTTCCTCCCTATCTTTTTCTTTGCTGGCTTTTTATGAGCAGGAAATACTTATTAATTCCCTGTAATAAATATAATTTTTATGCAGAGTTATCTTTATGCTTACAAATGAGTAAGTGAGCTTGGCTCTACTACCACCTTTAACCTTTGATTGAATGCCTTATAATTTACTGAGCAAACTAATTACCATGATGAAAGAGATGTATTTTGAAAATATTATCCCTTATTCAGGAAATTGATGACAGTGCTGAAGACTTACTTGGATACCTCCAGCAGAGGGGAGCAATGTGAGCCAATCCTAAGAACGCTGAAGGCTTTGGAATATGTGTTCAAGTTCATTGTTCGGTCGAGGACATTATTTTCACAGTGAGTACTTGTTATGTAAGAGTGATTGATTAGCTCTGCAATTCCTCTGGGATACAACAGTATTTTTACTGTAGGAGAAACTCGTTTAAAAAATTATAACCAGCTGTCGATCAAAAACAGCTCAAGAATCCAACCTAGAGAGTAATGAATATGTAATAATTGTACCCTCTAAGTTCATTTGGGAAAAAAAAGAAATCTTAACAGGTTGCAGAGTTATGTTTAACCAGTAAATGTGATTTGAGGCTCTTCTGTGTTTCATCTAACATTCTTCATTTGATTTGAAATATGGTGAACATTTTCCAGCAATCTATATCCAATGTTAGAGGGCCTGGGAGCAGGAAGGGCAGAACTCAGGGAGTCTGACATTTACTTGGCTCTTGTAGGTTGTACATGGCCAATAAGCTGGTATTTGCAGTTGACCTGTCTGTCCTTGAGATCCTAGTAGCCAAAAAGTGAGCTGATGTATTAGAGTACCTTAGAAGATTTTGATGGTCAGTATCACAGAGGCCAGCTGCCTTTTTGAAGGGCTTTGGAGAGGAAGGTATTCAAATGCAATTTATAGAAGAACAATTCATGTTCATCTTGGCCATAGGGCAAAGTTAGGTAGAGGATTGTTTGTGTGTAATCAGGTTGGTTGTGTGTGATGGAAAATAAGAAAAACATTCAAGGAAAGTATTGTCTGGATTCTTAGTGCAAACAAAGAACACGCAACTGAAACTGACTTAGGGAGAAATGAGACTTTATTTCACATCATTGAAAAACCAAGGGTGTAGTCGGCCTCAGGCATGGCTGAGTCCAGATGCTCAGCGTTATTGGGATAGTCTCTGTCTGTCTAGATCTGGACTCTGCTTTCTTTTTGTTGATTGTCTTATAAGGCAAGTTTTCCGACGCAGAGGCTGCTAGAATCCTCAAGTTTACATTCTACCAGTGGAAGCAACTCTATGTTCCTTGTTGTCCTAGCAAAACCCTATGCCAAGAACTGTTTTGGGTCTTGTATAGTTGTGGTCATGTGTGCATTACTGGAGTCATAGCCAGGTCAGCCACTTATGGTGTGGACTTGTTATTTTAGAGATGAGTTCTCAAAAGAAACTTGAATTAGCCTGGGCAACAAAGCAAGACTCTGACTCTTAAAAAAAAAAAAAAGACCATCATTGTGATTGTGATCATGACAATGGATGGGCTGCTAAAGCTTTATATTTGACAGTGCATCTGAAACAGGCAATCATTTGGGATTCTCTTAACACATTCTTTGAGATTTCAGGTTATGAATAGAAAGATGTGAGTGTCTTGAACCATGCGACAGAACAAATGCACTTAGGTCATTCTGAAAGTGAAGTGTCTGTTTCAGATTCCTCTGGCTTGTCATTTAGTCAAGTCTGAGTCGGGTATTCTAGGTTTGAGAGATACTTCTCAGTGATTTGGGAAAACCAATGAGACTCCAGTGAATCTAAGAGTGATTTTCTTGGAGGAGTTCAAGAATTCAGACATTGCAGTTACAGCTTAAAAGTCAAGGATATCTTATCCCATCTTCCAAGTGAGAATGTTTTATGTATAAGTAGAATATGTCTTTTCTACTTCTCAGACCTTTTCAGTTCTTCCTTTTGGTGTATTTATTTTATTGCTTCTCCTCTCTCCTATATTTCTTTCCTTTTCCATCCCTTCCTCCCTCCCTTTCTTCCTTCCTTCCTTCCATTTTTTCCTTCCATTTTCAAGGATTGAGCTTCTTTACAAAGCCTCTTGCAGTGCCTGAAGCTCAGACAACCAGCTGCGCTAATCCTCAAGGGTTCTGAGCTTGTGGAATTATACAGAGTTTGGAGCAGGCTGAGCTTCCCTGTTCCATGAGATGGACACTGAGCGGCTCCCCTTCCTACTGGAAGGCACATGGAGATGAGACTGCAGAGCTTCTGTTAAGATAACTCTCTTATTTATTTATTAATTTTGAGACAGAGTCTTGCTCTGTCACTAGAGCAATGGCGCAATCACGGCTAGAGGGCAATGGCACAATCATGGCTCACTGCGATCTCCGCCTCCCA
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CTTTTCATGATGCTGTACCATCCAGATCTTCCTTCTTTTAGTCCTCCCCTATGGTCTTTTTGTCCTCTCCCTATCTCGACTCAGATTTTCTCAGTGTTATGTCAAAATAAACACAAGAAACATCTGCATTAGGGAATCAGTGCCCAACAAAGTTTTTAAGTGTTAACCCCTTGTGTCATGGATATTTGCATTTTTAAAGAGGTTACTGAGAGACAACTGTGGCTTAATCAAGTGCTTCCCCAGAGAGTACCCTAGAATGCTAGCTCTCAGAAAAGATGTTTCATGACAAATATATACTTTGATTAATTAATTTAGGGAAGTGTTGAATGTTGCATGACCCTTTTAGAGATTCACAATGTACATAAGTATATTAAAGATTCTAAAAAGTTTTGCAATAAGAAAGTCTAATAATGATAACCTGACATTTCTCAAAACCTATTTGACCATGAAATCCTTTTCATCTTATAACACCCCACAGCACACTTCATGAAACATTTTCTTTGGGAAGATGCTACCTTAATAAAGAGAACTCATTATGTATTAGTGAGCTAATTCCTGGGCAAAGGATTTTAATGGGGGTTGAATTATGCCAGGTAAAGATGGCTTCCTGCCCTGGGTTTGCCCTGAAAATACTGCTGCCTTGCATCTTCCTCAGATTTACATAATAGGACTCATTGCAGACCGGAAATTTCAGCATTTCAACACCGTTCTGGAGGCTTACATCCAACAGCATTTCAGTGCGACCTTGGCTTACAAGTAAGTAATTGTGCACATGGGAACTTCTTCTCTACCACCCTCTTGCCCTGCCAGGATGCCTAGGGCACAGGAACTTGAGTAATTTTCTTTTGTGACTCATCTGTGTGAGCTCTCCATTCTCTAACAAAATCTAACCTATGCTTGGGTTATTTGGATATCATTAAAAATGTGGAATACCCATAGGTTTGGATGAATGCCTTATGGTTGCAGTGGTACCTGGAAGTGCTCATTCATCCATTCAGCTAGCGTGCTCTCATTTCTTGAGTGGACACCAGGACTTAAAGGCTACAGAGAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCTGAGATAGGTGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGTGGGAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGATTGCATTGTGCAGAGATCACACCACTGCACTCCAGCCTGGGTGACAGTAAGACTCATCTCAAAAACAAAACAAAACAAAACAAAACAAAAACAGCGGGGGAGCTACACAGAAGAAAGTGCACATGCCAAGTAGCTCAGTCTGGTTTGGGTGTAGGGAGAGGGTGAGAGATAGGAGATGATGCCACAGGGAGTTTGGTGGGGACCAGTTTGTGAAGGGGCCTTGAAAGTCAGGCCAAGTAATTTGAAGTCTGCCCTATGGTAAAGAAGAAACATAGAAAGTTCCTAAGCAAACTTAGAGTTCTGTGATATTACAAGAGCATGTTCTATAGAAAGAAAAAGTTGAAAAAAAAGACATTATTGCCACCATTATTCCCCATTATTCCCACTTGTAGCCTGATTGTGACTAGTTCTCCTAGTCAAAAGATTTTTTTTTCCTCCCTATCTTTTTCTTTGCTGGCTTTTTATGAGCAGGAAATACTTATTAATTCCCTGTAATAAATATAATTTTTATGCAGAGTTATCTTTATGCTTACAAATGAGTAAGTGAGCTTGGCTCTACTACCACCTTTAACCTTTGATTGAATGCCTTATAATTTACTGAGCAAACTAATTACCATGATGAAAGAGATGTATTTTGAAAATATTATCCCTTATTCAGGAAATTGATGACAGTGCTGAAGACTTACTTGGATACCTCCAGCAGAGGGGAGCAATGTGAGCCAATCCTAAGAACGCTGAAGGCTTTGGAATATGTGTTCAAGTTCATTGTTCGGTCGAGTACATTATTTTCACAGTGAGTACTTGTTATGTAAGAGTGATTGATTAGCTCTGCAATTCCTCTGGGATACAACAGTATTTTTACTGTAGGAGAAACTCGTTTAAAAAATTATAACCAGCTGTCGATCAAAAACAGCTCAAGAATCCAACCTAGAGAGTAATGAATATGTAATAATTGTACCCTCTAAGTTCATTTGGGAAAAAAAAGAAATCTTAACAGGTTGCAGAGTTATGTTTAACCAGTAAATGTGATTTGAGGCTCTTCTGTGTTTCATCTAACATTCTTCATTTGATTTGAAATATGGTGAACATTTTCCAGCAATCTATATCCAATGTTAGAGGGCCTGGGAGCAGGAAGGGCAGAACTCAGGGAGTCTGACATTTACTTGGCTCTTGTAGGTTGTACATGGCCAATAAGCTGGTATTTGCAGTTGACCTGTCTGTCCTTGAGATCCTAGTAGCCAAAAAGTGAGCTGATGTATTAGAGTACCTTAGAAGATTTTGATGGTCAGTATCACAGAGGCCAGCTGCCTTTTTGAAGGGCTTTGGAGAGGAAGGTATTCAAATGCAATTTATAGAAGAACAATTCATGTTCATCTTGGCCATAGGGCAAAGTTAGGTAGAGGATTGTTTGTGTGTAATCAGGTTGGTTGTGTGTGATGGAAAATAAGAAAAACATTCAAGGAAAGTATTGTCTGGATTCTTAGTGCAAACAAAGAACACGCAACTGAAACTGACTTAGGGAGAAATGAGACTTTATTTCACATCATTGAAAAACCAAGGGTGTAGTCGGCCTCAGGCATGGCTGAGTCCAGATGCTCAGCGTTATTGGGATAGTCTCTGTCTGTCTAGATCTGGACTCTGCTTTCTTTTTGTTGATTGTCTTATAAGGCAAGTTTTCCGACGCAGAGGCTGCTAGAATCCTCAAGTTTACATTCTACCAGTGGAAGCAACTCTATGTTCCTTGTTGTCCTAGCAAAACCCTATGCCAAGAACTGTTTTGGGTCTTGTATAGTTGTGGTCATGTGTGCATTACTGGAGTCATAGCCAGGTCAGCCACTTATGGTGTGGACTTGTTATTTTAGAGATGAGTTCTCAAAAGAAACTTGAATTAGCCTGGGCAACAAAGCAAGACTCTGACTCTTAAAAAAAAAAAAAAGACCATCATTGTGATTGTGATCATGACAATGGATGGGCTGCTAAAGCTTTATATTTGACAGTGCATCTGAAACAGGCAATCATTTGGGATTCTCTTAACACATTCTTTGAGATTTCAGGTTATGAATAGAAAGATGTGAGTGTCTTGAACCATGCGACAGAACAAATGCACTTAGGTCATTCTGAAAGTGAAGTGTCTGTTTCAGATTCCTCTGGCTTGTCATTTAGTCAAGTCTGAGTCGGGTATTCTAGGTTTGAGAGATACTTCTCAGTGATTTGGGAAAACCAATGAGACTCCAGTGAATCTAAGAGTGATTTTCTTGGAGGAGTTCAAGAATTCAGACATTGCAGTTACAGCTTAAAAGTCAAGGATATCTTATCCCATCTTCCAAGTGAGAATGTTTTATGTATAAGTAGAATATGTCTTTTCTACTTCTCAGACCTTTTCAGTTCTTCCTTTTGGTGTATTTATTTTATTGCTTCTCCTCTCTCCTATATTTCTTTCCTTTTCCATCCCTTCCTCCCTCCCTTTCTTCCTTCCTTCCTTCCATTTTTTCCTTCCATTTTCAAGGATTGAGCTTCTTTACAAAGCCTCTTGCAGTGCCTGAAGCTCAGACAACCAGCTGCGCTAATCCTCAAGGGTTCTGAGCTTGTGGAATTATACAGAGTTTGGAGCAGGCTGAGCTTCCCTGTTCCATGAGATGGACACTGAGCGGCTCCCCTTCCTACTGGAAGGCACATGGAGATGAGACTGCAGAGCTTCTGTTAAGATAACTCTCTTATTTATTTATTAATTTTGAGACAGAGTCTTGCTCTGTCACTAGAGCAATGGCGCAATCACGGCTAGAGGGCAATGGCACAATCATGGCTCACTGCGATCTCCGCCTCCCA
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Task1_train_9815
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A variant has been detected on Chromosome 5 in FOXI1 (forkhead box I1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 4
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GAGTGCAGAGGCCGCTGCTGCCCAGCGTGTCGGGGCTTGGGGGGAGCGACCTGGGCTGGCTGCCCATCCCCTCGCAGGAGGAGCTGATGAAGCTGGTGCGGCCACCCTATTCCTACTCGGCTCTCATCGCCATGGCCATCCACGGGGCACCCGACAAGCGCCTCACTCTCAGCCAGATCTACCAGTACGTGGCCGACAACTTCCCCTTCTACAACAAGAGCAAGGCCGGCTGGCAGAACTCCATCCGCCACAACCTGTCGCTCAACGACTGCTTCAAGAAGGTGCCCCGCGACGAGGACGACCCGGGTAAGGAGGCTTTGAGTGTGGGGGGTGTCCCCAAGGAAGACTCACTTCCTTCCTCCCCAAGACCCCATTCTAGAAAGTTCTGACTAGGGCTGTGCCCCCCAAGACTGGGGGATGCTACCAGGCAGGACAGAGGGGAGCTCAGCAGTGAAGGAGAGCATGGGCCTGGGGGAAGATTTGGGTTTCAGCCCTGGCTGTGCTCCTGCCCAGTCAGTGACCTCTGGCAGGTTAGACCTCAGAGCCTCAGTTCCCTCATCGGAAAACCAGGGATAGTGACAGCATCTGCTTTGCAGGCTGCAGTGGAGGTGATGAGATAATGTACACAAGGTTTTAGGTGTTATCAAGCGCTTAATCGCCTGCAGTAATTACGATTCATCTGCATCTCCAGCACCCAGCACATAGAAAGTCTTTGGTGAATGAATGACTGGACCAACCAAAGCCCAAGGGCATCCCAAGACTGCCAGGAAGAGGATCTGACCTGGGTTAAACAGCCACTAATGGCCCATTTTGCTGCCTGCCTTGTTTCTACTTAGGTAACCTCCTTTAACCCGAAGACACCCCTGCAGGGTAGCTCTTATGAAACCCATTCTACAGATTAGGAAAATAACACTCAGAGGTGACACAGAATGAAGTGATAGTGATGGAGCTTGAATTTGAACTCAGTTTTCTCTAACATCAGAAATTGTGAGCTTTTCCTTTTCAACGATGCATTTCTAAAACTCAGAGACCTGCAGAGAGGCATGTATTAAATACTCATGCATCCATTTCCCAGAATTAAAGTCCACTTTTGTTCCACCGCAGGAAGCCAAGGTATAGCTCAAAGGAACCCCAACTCTGCCCCATTTGAGGGTGGCAAACACCAGGCCTGTTTGTCCCCAGAAGAGGGCAAGTGTCCTGTCCAAGGACTGCCATCACCCTCAGGCTGAGAGACGGTAGCAGGAAGAGTTCAGGCCTTCCCTCGGGAAGGTACCTCCCAGCTGCAACGCTCCTTTCCATATCCGGTGTGGATCCTTTCTCAGTGGGCCTGAGGAAGACAGGGGCAATGGGCCCACTTTTCAGACTAGAAAACAGGTTCTTCCAAAGCCCCTCAGTCAGTGAGGAGCAAAGCCAGGACTCAAGTCTGTCTTCAGACTCCAAGCCTACGGCTATTAGGGAGTCCCAGAGTTTTCCTGAGTCTTCTTTTCCTTCAGCATTGAAAGCCCTCCAACCCCCAACCCCCAAATCCCTCAGCATCCCTGCTCCCAGTTCTTCATCCTTCTTAAAGAGACCTACATTGCAAACTCCTTAATGCTCATGCCTCTCGGCTGCAGTCCCAAAGGGCCCTGTCATGGGCTGCTTAATTAAAGATGGAGGTGGTGTGGTTCATCAGTTGATGGAATTCCTCCATTTCTCAGTCCCTGCCTGTCGGTCTCTGTCTTCCTGCATCTGTCACCTTGGCTTTTAGTTTATGACAATAAGGAGGAACAGAAGCAAAGCATTTTGTCCACCTCTCTATTTACCCCCTTTCACTTTTGTATCAGGCAAAGGGAATTACTGGACCCTGGACCCCAACTGTGAGAAAATGTTCGACAATGGAAATTTCCGCAGGAAAAGGAAGAGAAAATCAGATGTTTCCTCTAGCACAGCCTCCTTGGCCTTAGAGAAGACAGAGAGCAGTCTCCCGGTGGACAGCCCCAAGACCACGGAGCCTCAGGACATCTTGGATGGAGCCTCACCAGGGGGCACCACCAGCTCCCCAGAGAAGCGGCCCTCCCCTCCCCCATCAGGCGCCCCTTGCCTTAACAGCTTCCTTTCCTCTATGACAGCCTATGTGAGCGGGGGGAGCCCCACGAGCCACCCCTTGGTCACACCAGGACTGAGCCCTGAGCCCAGTGACAAGACGGGGCAGAACTCACTGACCTTCAACTCCTTCTCCCCGCTCACCAACCTCAGCAACCACAGCGGTGGGGGTGACTGGGCGAACCCCATGCCCACCAACATGCTCAGCTATGGAGGATCTGTGCTCAGCCAATTCAGCCCTCACTTCTACAACAGTGTCAACACCAGTGGTGTCCTCTACCCCAGGGAGGGCACCGAGGTCTAGGTACAGAACAGCTCCTGAGCCAGGTGGACATGCCAGAGAGAAAAGCAGTAGAGGTCCTCCATGCCAGCCCCACGGTGGTCCATGACTGCGGAACTGCCCAGACATAAGCAGGAGCCTCCGAGGAATCCACCCTCTTTCTAGAACACTGGTTAAGGCTTCTGTTTATCACACATAGGCCCACACACAGACTCACCAACTTTGCAATAGAAATACTGGTGCCTGCAGAGCAGCACTAACAGTGGCAGGTGCTGTACTAGGCTCTGTACTGGCCACACTTACTATTGACAGTCACCCCGTAAGGTTCACAAACCACCCCATTGAACAGATGAGGAACTGAGGCTCAAGGAGGTTAAGTAACATTTCCAGGGTTATATAAACTAGTAAATGGCAGAGCTAAGAGTCAAATCCAGGTCTATGTGATCCTCAGAGATTGGAGGCCGGGATGGAGAATTGGTTGAGTAGCCAAGGAAGGTCAGTGTGAAAAGCTTGCTATGGCAAATATAGCGAAATCTCTCCACTGCCTTCTGTCCACCAACATTTAGTGCCAGCCTAGGCACAACTTGTCCTGGTCCAAGTCCTTATTCTGCTTGCCCCAACTTACCTGCAGACACTCCTTTTGCTACCACTCAAGGAAGGAAGTCACCAGTGGCCTTAGTGCAGGAAACTCAGCCCTGGTGGCCCTGCAGAACAATGCATCTGACATGTGCGATGCATCCCCATGGAGAGACAGCATTGCTCCCCAGCCCTCCAGAAACCTTGAGCAGATCCAGGGATCAGTGAGAGGAGTGGTGTGTACCCCTAAATCCTCCCACCCCAGCACTGCCCATCTGTAAAATCTTGTAAAGCCCAGTTTCCTGTGTGCATGTCATGGACCAGTGAGCTGGAGATGGCTGAATCTTCCAAGAGAAACAAGGTTGGATAAGCGCTTCCTTTTTTTTAGCCCAGGAGAGGTGGATGTTTGTCTGAGAAAACAATGGCCTCAAGGGAGGGGCCTTGGGCCCACCCTCACAGGGGGTCTCTGTGTGATCTCTTGGGATTTCTCCTTGTTTTTGTGAGTACCTGGGAAGTGTTGTTTGTTTTCTTATTTTCTTTTTAATTAAAAAACAAACAAACATGTGGTGCAGAAGCGTGGGACTTCCTTATGAGATTTTCTGTCTCTCGGCTGCCTGGTGTGTTCAACAGGGGGGCCAACTGCTGCCTGGAGCTGAAGGCATTTGGGACAGGAGGCAGAGAAAGAATGCATATCAAGACTCTTTTCACCTCTTCACTGGCGTGGAGCCCAGACAAAAGCCCCCAAGGAAAAGAGGGGAGTCTGGGAAGGGTGGGTAGGGTCATGGAAGGAATCCATTGGTACTGAACACACAATATGGACTTGGCGTATCCCAGTCTTTACAGTTCATGCAAACCTCCTAACTGTGCTATGATCATTTAATTCTAACAACCCCGCGAAAAGGGGGATACTAGTCTCATTATACAGATGAGAAAACTGAGGGTCCGAGTGGTTGAGAGATTCGCGTGAAGTCCACATCCAGTCCACACCTAGATCTGTCTGACCCTGCAGCTCATCATGCTTCAGTGTAGTCTCAGATGCAACCAATGCTAGAGGCAGTAACAACAGTACTACAGGCTGCGATTCACTGAGGGCTGTGGGCAGTTCCTGGGTCAAGTGCTGTGTAGGTGGGACATTTTTTATCCTTACAGCAGCCTATA
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GAGTGCAGAGGCCGCTGCTGCCCAGCGTGTCGGGGCTTGGGGGGAGCGACCTGGGCTGGCTGCCCATCCCCTCGCAGGAGGAGCTGATGAAGCTGGTGCGGCCACCCTATTCCTACTCGGCTCTCATCGCCATGGCCATCCACGGGGCACCCGACAAGCGCCTCACTCTCAGCCAGATCTACCAGTACGTGGCCGACAACTTCCCCTTCTACAACAAGAGCAAGGCCGGCTGGCAGAACTCCATCCGCCACAACCTGTCGCTCAACGACTGCTTCAAGAAGGTGCCCCGCGACGAGGACGACCCGGGTAAGGAGGCTTTGAGTGTGGGGGGTGTCCCCAAGGAAGACTCACTTCCTTCCTCCCCAAGACCCCATTCTAGAAAGTTCTGACTAGGGCTGTGCCCCCCAAGACTGGGGGATGCTACCAGGCAGGACAGAGGGGAGCTCAGCAGTGAAGGAGAGCATGGGCCTGGGGGAAGATTTGGGTTTCAGCCCTGGCTGTGCTCCTGCCCAGTCAGTGACCTCTGGCAGGTTAGACCTCAGAGCCTCAGTTCCCTCATCGGAAAACCAGGGATAGTGACAGCATCTGCTTTGCAGGCTGCAGTGGAGGTGATGAGATAATGTACACAAGGTTTTAGGTGTTATCAAGCGCTTAATCGCCTGCAGTAATTACGATTCATCTGCATCTCCAGCACCCAGCACATAGAAAGTCTTTGGTGAATGAATGACTGGACCAACCAAAGCCCAAGGGCATCCCAAGACTGCCAGGAAGAGGATCTGACCTGGGTTAAACAGCCACTAATGGCCCATTTTGCTGCCTGCCTTGTTTCTACTTAGGTAACCTCCTTTAACCCGAAGACACCCCTGCAGGGTAGCTCTTATGAAACCCATTCTACAGATTAGGAAAATAACACTCAGAGGTGACACAGAATGAAGTGATAGTGATGGAGCTTGAATTTGAACTCAGTTTTCTCTAACATCAGAAATTGTGAGCTTTTCCTTTTCAACGATGCATTTCTAAAACTCAGAGACCTGCAGAGAGGCATGTATTAAATACTCATGCATCCATTTCCCAGAATTAAAGTCCACTTTTGTTCCACCGCAGGAAGCCAAGGTATAGCTCAAAGGAACCCCAACTCTGCCCCATTTGAGGGTGGCAAACACCAGGCCTGTTTGTCCCCAGAAGAGGGCAAGTGTCCTGTCCAAGGACTGCCATCACCCTCAGGCTGAGAGACGGTAGCAGGAAGAGTTCAGGCCTTCCCTCGGGAAGGTACCTCCCAGCTGCAACGCTCCTTTCCATATCCGGTGTGGATCCTTTCTCAGTGGGCCTGAGGAAGACAGGGGCAATGGGCCCACTTTTCAGACTAGAAAACAGGTTCTTCCAAAGCCCCTCAGTCAGTGAGGAGCAAAGCCAGGACTCAAGTCTGTCTTCAGACTCCAAGCCTACGGCTATTAGGGAGTCCCAGAGTTTTCCTGAGTCTTCTTTTCCTTCAGCATTGAAAGCCCTCCAACCCCCAACCCCCAAATCCCTCAGCATCCCTGCTCCCAGTTCTTCATCCTTCTTAAAGAGACCTACATTGCAAACTCCTTAATGCTCATGCCTCTCGGCTGCAGTCCCAAAGGGCCCTGTCATGGGCTGCTTAATTAAAGATGGAGGTGGTGTGGTTCATCAGTTGATGGAATTCCTCCATTTCTCAGTCCCTGCCTGTCGGTCTCTGTCTTCCTGCATCTGTCACCTTGGCTTTTAGTTTATGACAATAAGGAGGAACAGAAGCAAAGCATTTTGTCCACCTCTCTATTTACCCCCTTTCACTTTTGTATCAGGCAAAGGGAATTACTGGACCCTGGACCCCAACTGTGAGAAAATGTTCGACAATGGAAATTTCCGCAGGAAAAGGAAGAGAAAATCAGATGTTTCCTCTAGCACAGCCTCCTTGGCCTTAGAGAAGACAGAGAGCAGTCTCCCGGTGGACAGCCCCAAGACCACGGAGCCTCAGGACATCTTGGATGGAGCCTCACCAGGGGGCACCACCAGCTCCCCAGAGAAGCAGCCCTCCCCTCCCCCATCAGGCGCCCCTTGCCTTAACAGCTTCCTTTCCTCTATGACAGCCTATGTGAGCGGGGGGAGCCCCACGAGCCACCCCTTGGTCACACCAGGACTGAGCCCTGAGCCCAGTGACAAGACGGGGCAGAACTCACTGACCTTCAACTCCTTCTCCCCGCTCACCAACCTCAGCAACCACAGCGGTGGGGGTGACTGGGCGAACCCCATGCCCACCAACATGCTCAGCTATGGAGGATCTGTGCTCAGCCAATTCAGCCCTCACTTCTACAACAGTGTCAACACCAGTGGTGTCCTCTACCCCAGGGAGGGCACCGAGGTCTAGGTACAGAACAGCTCCTGAGCCAGGTGGACATGCCAGAGAGAAAAGCAGTAGAGGTCCTCCATGCCAGCCCCACGGTGGTCCATGACTGCGGAACTGCCCAGACATAAGCAGGAGCCTCCGAGGAATCCACCCTCTTTCTAGAACACTGGTTAAGGCTTCTGTTTATCACACATAGGCCCACACACAGACTCACCAACTTTGCAATAGAAATACTGGTGCCTGCAGAGCAGCACTAACAGTGGCAGGTGCTGTACTAGGCTCTGTACTGGCCACACTTACTATTGACAGTCACCCCGTAAGGTTCACAAACCACCCCATTGAACAGATGAGGAACTGAGGCTCAAGGAGGTTAAGTAACATTTCCAGGGTTATATAAACTAGTAAATGGCAGAGCTAAGAGTCAAATCCAGGTCTATGTGATCCTCAGAGATTGGAGGCCGGGATGGAGAATTGGTTGAGTAGCCAAGGAAGGTCAGTGTGAAAAGCTTGCTATGGCAAATATAGCGAAATCTCTCCACTGCCTTCTGTCCACCAACATTTAGTGCCAGCCTAGGCACAACTTGTCCTGGTCCAAGTCCTTATTCTGCTTGCCCCAACTTACCTGCAGACACTCCTTTTGCTACCACTCAAGGAAGGAAGTCACCAGTGGCCTTAGTGCAGGAAACTCAGCCCTGGTGGCCCTGCAGAACAATGCATCTGACATGTGCGATGCATCCCCATGGAGAGACAGCATTGCTCCCCAGCCCTCCAGAAACCTTGAGCAGATCCAGGGATCAGTGAGAGGAGTGGTGTGTACCCCTAAATCCTCCCACCCCAGCACTGCCCATCTGTAAAATCTTGTAAAGCCCAGTTTCCTGTGTGCATGTCATGGACCAGTGAGCTGGAGATGGCTGAATCTTCCAAGAGAAACAAGGTTGGATAAGCGCTTCCTTTTTTTTAGCCCAGGAGAGGTGGATGTTTGTCTGAGAAAACAATGGCCTCAAGGGAGGGGCCTTGGGCCCACCCTCACAGGGGGTCTCTGTGTGATCTCTTGGGATTTCTCCTTGTTTTTGTGAGTACCTGGGAAGTGTTGTTTGTTTTCTTATTTTCTTTTTAATTAAAAAACAAACAAACATGTGGTGCAGAAGCGTGGGACTTCCTTATGAGATTTTCTGTCTCTCGGCTGCCTGGTGTGTTCAACAGGGGGGCCAACTGCTGCCTGGAGCTGAAGGCATTTGGGACAGGAGGCAGAGAAAGAATGCATATCAAGACTCTTTTCACCTCTTCACTGGCGTGGAGCCCAGACAAAAGCCCCCAAGGAAAAGAGGGGAGTCTGGGAAGGGTGGGTAGGGTCATGGAAGGAATCCATTGGTACTGAACACACAATATGGACTTGGCGTATCCCAGTCTTTACAGTTCATGCAAACCTCCTAACTGTGCTATGATCATTTAATTCTAACAACCCCGCGAAAAGGGGGATACTAGTCTCATTATACAGATGAGAAAACTGAGGGTCCGAGTGGTTGAGAGATTCGCGTGAAGTCCACATCCAGTCCACACCTAGATCTGTCTGACCCTGCAGCTCATCATGCTTCAGTGTAGTCTCAGATGCAACCAATGCTAGAGGCAGTAACAACAGTACTACAGGCTGCGATTCACTGAGGGCTGTGGGCAGTTCCTGGGTCAAGTGCTGTGTAGGTGGGACATTTTTTATCCTTACAGCAGCCTATA
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Task1_train_9816
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The gene KCNIP1 (potassium voltage-gated channel interacting protein 1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Idiopathic generalized epilepsy
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GATGGAGTAACTGAGTTTCGGGGAAGATAAGCAGTGTACTCAAGATTGCACAGCTGGTGAGTAGCAAACCAGGATTAGATTCCATAAGGGTCTGAAACAGGTTTTGCCATGCTGGCACCACCATTGTGCAGGGCACTTTTGAATCTTTTCCTTAAAATAGCTGAGACAAGCTGGAATTTTGTAAAAGAACTTCAGTAAATACCGAAGACTATAAAAATAAACTAATTGAAAAAGAGGCAGGAAACATAAAGTTGTGCTTATTAAGCCAGTTTACAAGTGTGCCAGGCCCACAACAGCTGCTCTGTTGCCCTGCCCGACTCCTGTGGGAACCAGCTGTGTCCCCATGGGCCTGGGACCACATCGGTGACTCCTCCTGTGGCCTCCATGTGTCACATGCCACTTTGCATCCTGTCACCAAGAGCTGTCTCCTGCAAGACATCTTCCCTGGATCCTGACAAAATGCAAATCCAAGTATTCCAAACACTTCTTGGGCCCTGTTTCTCATGGGCCTTTTTGGCAGCAGACAGATGCCTTCCTTGGTGTGTGGGGCCCCTACCCAGATCAGGTGGGGGAGGCAGTTTTGTCCCATGCAGGCCCCAGAATTGCAGTTTGCTGAGTTCCACTGAGCCACTGTTTATTGAGTTCTCACTGTATGCCAGGCACAGCTGTAGTTTAAAATACTTTTTAAAAAATTTCAAGAGATAGGTCTTGCTACATCCCATTGTAGAGAGGTAGGAAAGGGAAGCTCAGAGAGGTCGTGCTTGATGCCCACAGTCACATAGCTTATGTAGTACAGCGGCATCCAAGTTCAGGTCTCTCTACTCTGGAGTGAGTGCTCATCCCAGGCATTCATGGCCGTTCAGAAGAACATTGTCATGCAGTCACTGTGCCATTCATACACCAACGACTCCATGCATAGACAGGCAGGAGAATGGTTTTCTCATGATGGCTAGAGGGAGGGGCAAGGGCTCATCTCACTTTTTGCTAGATCTAACTTCACACCCAAACCCAAAGAGTTGAGTCAATGGGCCCCACTCCATAATTTTCTCCTTTCCATCACCCTAGCATCACTCTCCTCTCTTTCTTGTCGAAGCCCTGCCTTGTTTGGAAGGTTCTCCCTGTGTGGAATTCCTGCCCCCATCACCTGCCCTCCTTTTCTGCCTTGTAGATGCCAGCACGTATGCCCATTACCTCTTCAATGCCTTCGACACCACTCAGACAGGCTCCGTGAAGTTCGAGGTACGCTCATCTGGGGTCCACTCTAGGGGTCCTCTGGTTCTGCATCACCTCCCCCTCTAAATCTCAAGGCATTGGGGGAAGGTCTGGACCATCAAAAGCTCTCAGTCAGACCAAAGACATGTTTATCCATTTGTAAGCATTTCCTAAAGATGGGGAAAAGCAGCAGCAACTTTCCCTGGCCTGCAGGAACTCAGGGACTCAGGGGACTAATAACAACAGTGTATGAGCTTCCGGGCACACTGCTTCCCAGTGGCAGCCCCTGTACTTAGGGCTTTGTATGTATTAATTCATTTACTCCAATTCCCACAATAACCCTATAGGGTAGGGTTTTATTATTGATTACCTTTTTACAGAAGAGGAGAGTAAGGCAAAGAGAGATAGAGTAGTTTTCCCAAGGTCAAAGAGCACATAAATGATAAAGGATGGATTTGAATGTAGGCAGAATGACCCTCAATACAGACTGTTCCTACAGTCCACGTCCTCAGCCACTAGACCATACGGCCACTGGGATGATAGACAGACCACTGCAGCCATGGATAAGGCAAAAACAGGGCTGGCTGTGTTGATCTGTGTCTCTCAGAGCTCCATTCTTCCTCAAGGGGGCACCTTGCAAAAAAAAACAAAAAAATGGGGCAGGGTAGGGAACTGAAGGCAGGAGCTCTTCACAGAGCATAGCCACATCCTCCAGGCAGACAAGAGGACGCAGGAGGCACCATTCTGTGAGAGTATCACAGTCTGACCCAAAGACACAGCTTCACACTGTCTGATGGCTTGATGGTTAATGTCACTCTGCCTTTTCCCCTTCTCAGGACTTTGTAACCGCTCTGTCGATTTTATTGAGAGGAACTGTCCACGAGAAACTAAGGTGGACATTTAATTTGTATGACATCAACAAGGACGGATACATAAACAAAGAGGTAAGTGAGCTGGGGCCAGGGGTGTGAGAGGGCTCCAGTGAAGGTAACTAACCCAACAGAAAACAGCCCCAGGCATGAGGATAGCACTGTCTGAATGAGGCAGGCTCTGCTTTGGGGCTAACAGAGCTGGTCCCTGGCAAAATAAAGAAGGCCTCCCTCATTGCCCTACCCTGCCCTGTTCCCAAGCGCCCAGAAAGGATTAAACAGATTCATTCTCACTGGGTCACCTAGATTCAGTAGATATTACACAGTGGATAAAAATGACTTGTTTCAGTGTGAAGAGTTACTCTTCCCTAGGGAACCTGCATTTGGGAAGGTTAGGAGCCACAAGTCAAAGCTAAAAGTTGAAATGGTGGAATTGTAGGCAGCACCTAGAATAGAAAAGAAAGATTTTTAAGGAAGAGGAACCTACAATTGGGTCATATTGGCCTTAAACTATTTTGCCTATTAATACAACCGCCAAGGGGGTAATGGAAGGTACAGCTGTCTTTACAGAAATTATCACAAATAATTTCTGAATCTTCACTGCTTTGCACTTTTAGAACCTCAGAGGACATGTCTCTAGCCAGTGAAATACCCTCAGGTCTATCTCAAAACTCACTTTGGTATCCACTGTATCCTGGTATCTCAGTGGAAGCTGGAAATTGGCATCCTGTAACACTCCACTTGCTGAGCTCCTGTGTGCCAGGCACGGTGCCTGGAGGTATAGATATCAGCACCAATCTTCACCTCAACCCGGCAAGCTTCTCTCTGTAAGCTCAGAGAGTTTATCCAACTTTCATTCCTCATTCATTTAGTCATGTTTTTAATTAACACAGATTTGAAGGCTTATTAGGTGTTCTAGGTGCTGGAGGTAAAGAGGTGAACAATCAGACTAGGCCCCACACTGGAGCAGCATAGAGAGATGGACAATAAACAGGCCAAAAAGGAATCAGCAGGTAGAAGATATTTTGGCAGGGAAGGTTAGCAAAGGCCTCTCCAAGGAGGTGTCGTCATACTGGAACCAGTTATACAAAAAGCCAGGAAAAGTGTTCCAGGCAGAAGGAACAGCCACTAGAGAGGCTTTGAGGCAAGATAGAGCTTCATGTGTTTCAAAAACAGAAAGGCTTCAGATGGCTGCAGATGAAGGTATGAAGCTGAAGACTAGTGCAGGATGAGCCTGACAGGTCAGCAGAGTCAGATGGTGGAGGGCTAGGGTAAGGGGCCCATCCATATTCCCCTGGGAAGCTCTTAGATGAACATGTTTTTTGAAAGACACAAAAGGCAAAAACAGACTTAAAAAGAATCAGAAAATCTGACTAGCTCTGTATTATTTAGAGAAATTATATTCACAGTTAAAAACCATTCCCAAATAAAATTATAGGCCCAGATGGTGGACTGGTGAATTCTAATATCAATCCTACAAAAAAATTTTAGAAAATAGAGGAGGATGGAACATTTCCCAGCTTGTTTTATAAGTCCAATAGTACCCTGATACCCAAACCAAAGAAAAAAAGGTCTTATGAAAGGAAACAACTACAAAACAGTCTCCCTCGTGAGCACAGATAAAAAAGCTTTCACTAAATATTAGCAAATTGAATTCAGCAATATATAAAAAGGATGATACAATACAACTATGTGAGTTTTATTCTAGGAAGGCAAGGTTGGTTTAACATTCAAAAACCAATCAATATAATTCACTATATTTAAAGAAACCAAAGGGATATAGACTGGAAAGGAAGAATTAACACTGTCTTTATTTGTACATGGTATAATTGTATTAATAGAAAACCCTAAGAGTCTACAAATAAACTGCTAAAAATAATAAGTGAATTTAACAAAGTGAAGACATGAGTTCTATTTACAAAAATCATTTATAATTCTACATCCAACAAGCAACCAGAAAATTAAATTAAGAAAAATAGCATCAAAAAGCACAAAATACTTTGAGAAAAATTCAA
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GATGGAGTAACTGAGTTTCGGGGAAGATAAGCAGTGTACTCAAGATTGCACAGCTGGTGAGTAGCAAACCAGGATTAGATTCCATAAGGGTCTGAAACAGGTTTTGCCATGCTGGCACCACCATTGTGCAGGGCACTTTTGAATCTTTTCCTTAAAATAGCTGAGACAAGCTGGAATTTTGTAAAAGAACTTCAGTAAATACCGAAGACTATAAAAATAAACTAATTGAAAAAGAGGCAGGAAACATAAAGTTGTGCTTATTAAGCCAGTTTACAAGTGTGCCAGGCCCACAACAGCTGCTCTGTTGCCCTGCCCGACTCCTGTGGGAACCAGCTGTGTCCCCATGGGCCTGGGACCACATCGGTGACTCCTCCTGTGGCCTCCATGTGTCACATGCCACTTTGCATCCTGTCACCAAGAGCTGTCTCCTGCAAGACATCTTCCCTGGATCCTGACAAAATGCAAATCCAAGTATTCCAAACACTTCTTGGGCCCTGTTTCTCATGGGCCTTTTTGGCAGCAGACAGATGCCTTCCTTGGTGTGTGGGGCCCCTACCCAGATCAGGTGGGGGAGGCAGTTTTGTCCCATGCAGGCCCCAGAATTGCAGTTTGCTGAGTTCCACTGAGCCACTGTTTATTGAGTTCTCACTGTATGCCAGGCACAGCTGTAGTTTAAAATACTTTTTAAAAAATTTCAAGAGATAGGTCTTGCTACATCCCATTGTAGAGAGGTAGGAAAGGGAAGCTCAGAGAGGTCGTGCTTGATGCCCACAGTCACATAGCTTATGTAGTACAGCGGCATCCAAGTTCAGGTCTCTCTACTCTGGAGTGAGTGCTCATCCCAGGCATTCATGGCCGTTCAGAAGAACATTGTCATGCAGTCACTGTGCCATTCATACACCAACGACTCCATGCATAGACAGGCAGGAGAATGGTTTTCTCATGATGGCTAGAGGGAGGGGCAAGGGCTCATCTCACTTTTTGCTAGATCTAACTTCACACCCAAACCCAAAGAGTTGAGTCAATGGGCCCCACTCCATAATTTTCTCCTTTCCATCACCCTAGCATCACTCTCCTCTCTTTCTTGTCGAAGCCCTGCCTTGTTTGGAAGGTTCTCCCTGTGTGGAATTCCTGCCCCCATCACCTGCCCTCCTTTTCTGCCTTGTAGATGCCAGCACGTATGCCCATTACCTCTTCAATGCCTTCGACACCACTCAGACAGGCTCCGTGAAGTTCGAGGTACGCTCATCTGGGGTCCACTCTAGGGGTCCTCTGGTTCTGCATCACCTCCCCCTCTAAATCTCAAGGCATTGGGGGAAGGTCTGGACCATCAAAAGCTCTCAGTCAGACCAAAGACATGTTTATCCATTTGTAAGCATTTCCTAAAGATGGGGAAAAGCAGCAGCAACTTTCCCTGGCCTGCAGGAACTCAGGGACTCAGGGGACTAATAACAACAGTGTATGAGCTTCCGGGCACACTGCTTCCCAGTGGCAGCCCCTGTACTTAGGGCTTTGTATGTATTAATTCATTTACTCCAATTCCCACAATAACCCTATAGGGTAGGGTTTTATTATTGATTACCTTTTTACAGAAGAGGAGAGTAAGGCAAAGAGAGATAGAGTAGTTTTCCCAAGGTCAAAGAGCACATAAATGATAAAGGATGGATTTGAATGTAGGCAGAATGACCCTCAATACAGACTGTTCCTACAGTCCACGTCCTCAGCCACTAGACCATACGGCCACTGGGATGATAGACAGACCACTGCAGCCATGGATAAGGCAAAAACAGGGCTGGCTGTGTTGATCTGTGTCTCTCAGAGCTCCATTCTTCCTCAAGGGGGCACCTTGCAAAAAAAAACAAAAAAATGGGGCAGGGTAGGGAACTGAAGGCAGGAGCTCTTCACAGAGCATAGCCACATCCTCCAGGCAGACAAGAGGACGCAGGAGGCACCATTCTGTGAGAGTATCACAGTCTGACCCAAAGACACAGCTTCACACTGTCTGATGGCTTGATGGTTAATGTCACTCTGCCTTTTCCCCTTCTCAGAACTTTGTAACCGCTCTGTCGATTTTATTGAGAGGAACTGTCCACGAGAAACTAAGGTGGACATTTAATTTGTATGACATCAACAAGGACGGATACATAAACAAAGAGGTAAGTGAGCTGGGGCCAGGGGTGTGAGAGGGCTCCAGTGAAGGTAACTAACCCAACAGAAAACAGCCCCAGGCATGAGGATAGCACTGTCTGAATGAGGCAGGCTCTGCTTTGGGGCTAACAGAGCTGGTCCCTGGCAAAATAAAGAAGGCCTCCCTCATTGCCCTACCCTGCCCTGTTCCCAAGCGCCCAGAAAGGATTAAACAGATTCATTCTCACTGGGTCACCTAGATTCAGTAGATATTACACAGTGGATAAAAATGACTTGTTTCAGTGTGAAGAGTTACTCTTCCCTAGGGAACCTGCATTTGGGAAGGTTAGGAGCCACAAGTCAAAGCTAAAAGTTGAAATGGTGGAATTGTAGGCAGCACCTAGAATAGAAAAGAAAGATTTTTAAGGAAGAGGAACCTACAATTGGGTCATATTGGCCTTAAACTATTTTGCCTATTAATACAACCGCCAAGGGGGTAATGGAAGGTACAGCTGTCTTTACAGAAATTATCACAAATAATTTCTGAATCTTCACTGCTTTGCACTTTTAGAACCTCAGAGGACATGTCTCTAGCCAGTGAAATACCCTCAGGTCTATCTCAAAACTCACTTTGGTATCCACTGTATCCTGGTATCTCAGTGGAAGCTGGAAATTGGCATCCTGTAACACTCCACTTGCTGAGCTCCTGTGTGCCAGGCACGGTGCCTGGAGGTATAGATATCAGCACCAATCTTCACCTCAACCCGGCAAGCTTCTCTCTGTAAGCTCAGAGAGTTTATCCAACTTTCATTCCTCATTCATTTAGTCATGTTTTTAATTAACACAGATTTGAAGGCTTATTAGGTGTTCTAGGTGCTGGAGGTAAAGAGGTGAACAATCAGACTAGGCCCCACACTGGAGCAGCATAGAGAGATGGACAATAAACAGGCCAAAAAGGAATCAGCAGGTAGAAGATATTTTGGCAGGGAAGGTTAGCAAAGGCCTCTCCAAGGAGGTGTCGTCATACTGGAACCAGTTATACAAAAAGCCAGGAAAAGTGTTCCAGGCAGAAGGAACAGCCACTAGAGAGGCTTTGAGGCAAGATAGAGCTTCATGTGTTTCAAAAACAGAAAGGCTTCAGATGGCTGCAGATGAAGGTATGAAGCTGAAGACTAGTGCAGGATGAGCCTGACAGGTCAGCAGAGTCAGATGGTGGAGGGCTAGGGTAAGGGGCCCATCCATATTCCCCTGGGAAGCTCTTAGATGAACATGTTTTTTGAAAGACACAAAAGGCAAAAACAGACTTAAAAAGAATCAGAAAATCTGACTAGCTCTGTATTATTTAGAGAAATTATATTCACAGTTAAAAACCATTCCCAAATAAAATTATAGGCCCAGATGGTGGACTGGTGAATTCTAATATCAATCCTACAAAAAAATTTTAGAAAATAGAGGAGGATGGAACATTTCCCAGCTTGTTTTATAAGTCCAATAGTACCCTGATACCCAAACCAAAGAAAAAAAGGTCTTATGAAAGGAAACAACTACAAAACAGTCTCCCTCGTGAGCACAGATAAAAAAGCTTTCACTAAATATTAGCAAATTGAATTCAGCAATATATAAAAAGGATGATACAATACAACTATGTGAGTTTTATTCTAGGAAGGCAAGGTTGGTTTAACATTCAAAAACCAATCAATATAATTCACTATATTTAAAGAAACCAAAGGGATATAGACTGGAAAGGAAGAATTAACACTGTCTTTATTTGTACATGGTATAATTGTATTAATAGAAAACCCTAAGAGTCTACAAATAAACTGCTAAAAATAATAAGTGAATTTAACAAAGTGAAGACATGAGTTCTATTTACAAAAATCATTTATAATTCTACATCCAACAAGCAACCAGAAAATTAAATTAAGAAAAATAGCATCAAAAAGCACAAAATACTTTGAGAAAAATTCAA
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Task1_train_9817
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Consider this mutation in ERGIC1 (endoplasmic reticulum-golgi intermediate compartment 1) on Chromosome 5. Is this a benign change or a disease-causing variant?
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Pathogenic; Arthrogryposis multiplex congenita 2, neurogenic type
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AAAGGCACTTAGAAGAGAGTCTAGCACGTAGTAAGTGCTATTTTACTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTGAGATAGAGTTTTTCTCTGTTGCCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATGTTTTGTGGTTTTAGTAGAGATGGGGTTCGCCATATTGGCCAGGCTGGTCTCGAACTGCTGGCCTCAAGTTATCCGCCCACCTTGGCCTCCCAAAGTGCTGCGATTACCGGCGTGAGCCACTGTGCCCAGTCGTTTTACTTTTCTTTAACCCTCACAACAAGCCTGTGATAGAAGAGGAAACTGAGGCACAGAGATTAGGTAACCTGCTCGAGGTCTCAGCGCTAGTAACTCAGCCACTGATCTGCTCTGAGCCTCCTCCACGCACCTGCATTTAGCCCATTCTTTGTACCTGCCGCACGGCACTGGGAAGAGGGCTGTTCCACTGGCTCCAGTGATAAGCAGTTGAATTGCTTCCAGTTGCCACTATTTCAGATAAGGTTGCCTGAGCAGCTTTGCACACACATCTGGACACACATTGTGGATCTAGAGGACAGGCTGCCAACATTGGAACTGCTGAGTGAAAAGCGGACCTGCTTGTGTTTTCTCTAAACTTCACATTATACCATTGGCATTTCCCATGTCCTGTGGACCCGTGAGGGTCATTTCGAATGGCTCCAGCACGTTCCCTTCTATGGCTGGATCCTCACTTACTTCTCTGTCCTCATCGAGGAACACAGAGTTGTTCCCAATTTTCCCTTTTAAGGTTGTCCCTCTTTAAAATTGCTTCCAGCTGTTCTTCCTCTGTATGGCACCTCCTTTCTAGCGCTCCTGCCAGGGAAATTCCTACATTTCCATAGTTCACAGGGATCATCTCACCACTGGCTACTTGGACCATCTCTGGGGATGCAGTTGGCATTGGCCTGCCCATTTTACAGATGGGGAAGCCATCTGAGTCCCAGTGAGGTGACAGAGGGCAGGGCCTATCTTTTCCCTTTGTGCATTCCTGGTGCTTATCATAGGGCTGGTAGCATAGGCGATGGGTAAAGGAAGGTGTGAATGAATGAATAAGTGAATGATGGATGAATGGATGGGGGGCCTGAGCCTATTCACCCCATAAACCCAAAAACTCTCTGAAGGCCAGGAACGGTGGCCTACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTTTTTTGTATAGGCGGGCACCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATGCAGGAGGCGGAGGTTGCAGTGAGTCGAGAGCATGCCATTGCACACCAGCCTGGGCAAGAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAGACTATCTGAGATACAAGAGCTAACATTTATTAAGCACTTTCCACCTAGCGTTCATCAGACCCTAAGCATTTTCTACATCTATGAACTATTTGATCCCCATAATCTTTCAAGGAGGGTTCAATTATGGTCAGCCCCCCATCTTACAGAGAAAGAAACTGAGGCATCCAGAGGTTAAGTACCTGAGGCAGGACCCAGATTCAGAGGACCAGTATGGCAGACCCCAGGGTGGCCCCGGGACCCCTACTATGCACTGCCCCCCTCGCCTCACGTTTAGCGGAGTCATTGTCCTGTCCCCTGTAGTCTTTGGACCCCAGACCATGAGCTCCTGGAGGTCCCCAGCCCGGCCTGCCCCTGCAATGGATGAATGAAGGCTCCCAGAGAGAACAGGCTGGCCCCCATCCTCCCGCGTCTCTGGGTTTGTGACTGTTGTCTCCCTTTGGCTCCTGCAGTGGTTGGGCTTGACATTCAGGATGAGATGGGCAGGCACGAAGTGGGCCACATCGACAACTCCATGAAGATCCCGCTGAACAATGGGGCAGGCTGCCGCTTCGAGGGGCAGTTCAGCATCAACAAGGTATGGAAGCCCTGCCTCAGCCCTTTCTACCTGCTCCCCTTTCCTGCTGTCTCCCCGCTCCCTGGAAACTGGTTGTGGAGGCACTCACTCGACCTGACCCTGACACAGCCCCCAGCAAGCGAGGGTTCGTGTCCAGCTGCCTGGCCGTTCCTGCTGAGAATCTGGATGGGGGTCCAGGCTCCCTGGGGTTTTAAGCCCCTGATGGCTGGTTCAGGAAGGAGCTACTCTTCTCTCCAGTGAGGGGGACAATGATGAGAAGACCTGAGGATTTGCAGCCCCCAGCCCTGGGTTCAAGTCCCAGCTCTACCCCTTCTTGGCCCCTACAAGTCACTTGACCCATCTTAGGCTGAGGGTGTGATGGCGATAATAGTATCACGATACCACCCACTTCACAAAGTTTGTGTGGGGATTAAATGAGCTAATGCAGATTCATTCATTCAGAAAAATTTTTGAATGGCACGTTCTGTGTTCCAGGGTCGGTGATAGGCTCTGGGGCAGCGTTCCTGGGCTGGTGGGGCTCCCATTCTGGTAGAGGGAGACAGTCTACAAACCAGAAAGCATCAGGGATGCTAAGTGCAGTGATGAGGAATAAAGCCAAGGGGAGTGAGATGAGGTGGGCTTGAAAGTACCTTGTCCGCTCAGAAGGACCATTCAAGGTTCACTGTTGTTTTGTCCTCAGAACCAGGAGCTTCAGATCCTAAGTCAAGTGGGTGAACGCAGTGCCCTTGGGAGGGCCGAGGCACCCGGTGGCAGCTGGCAGGGTTTTGCTCAGCACGTGCCGGCCTTCCTCGAAGCTCGGTACTGTCACAGTGGAGCCTCTCAACAACGCTGTGAGGCAGCACCATTTGACAGGTTAGGATGCTGGGGCCCAGAGAGGTTAAGTGTCTTGCCCGAGGTCACACAGCTATCTGCATGTCCCACAACTCCCCTTCCCAGCCCCAGCCAAACTGAGCCACTGGCCACTCCTGGCTTCTCCTTGTCCCTCCTGCAGCCTCTGCTCAGAACGCCCTTCCTCCAGACCCTGACACCTGAGCTGGGGTTGCAAAGTCACTGGCCACATCCAGCCCAAAGATAAATTTTGTTTGTCCAGTATAGCATTTAACTGCATCAGAACCAGTATGAAAAGACCAGGAATCCAGATTTCTGGCTTTTAAAAGTCAGAGGCTCTCACTACACTGGGTCCGTGTTCCCGCTATGACAATGACCTGGCACCAATGGGCAGTGTTCCCCTTTAGAGAGGGTGTGTGCTGTCCCTTCCCACAGTCCCTGGCAGGCGGCTGGAAGGCCAGGCCTGGTCATCTGTCAAGCAGGGTGGACTTCTTACGTGACAGTTCAGGGCTCCCTTAAGTGCTAAAGCAGAAGCTGCAAGGCTTTCTTAAGGTTTCGAGTGTTGCTGGGAGAAATCTGCTGCATGTTGTGGGTTAAAGGGAGTCTCTCACCAGCCCAGGCCCTCAGGAGGAGGAGATACCAGGAGGCAGGGATGCTGGGGGTCGTGGTTCACTGGGGGCTCTCTCTGCCCATGAGCTGCCACACAGCACCTTTGCCATGCCCCGTAATTTGGATTTTATGGTGGTTGTGATGGAAAGCCATTTGAGGGTTTTGAACAGGGAGGCAATGTAATCAGATTTATGCCTTAGAACTGGACTATCCAATAGGTTGCCACCAGCCACATAAGGCTATTTAAATTAATTCAAATTAAATGTACAATTCAGTCACTCATTCTCATCAACCACATTTCAAGTGCTCAAAGCCACGTGCTGGCTAGGGGCCACAGCGTTAGACAGTGCAGAGAGAAAGCACTTCCATCGCTGAGGAAAGTTCTGCTGGACCGCACACCCTTAGAAGGATGGCTCTGGTGGCCGGGCGCGGTGGCTCAAACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACATGGTGAAACCC
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AAAGGCACTTAGAAGAGAGTCTAGCACGTAGTAAGTGCTATTTTACTTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTGAGATAGAGTTTTTCTCTGTTGCCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATGTTTTGTGGTTTTAGTAGAGATGGGGTTCGCCATATTGGCCAGGCTGGTCTCGAACTGCTGGCCTCAAGTTATCCGCCCACCTTGGCCTCCCAAAGTGCTGCGATTACCGGCGTGAGCCACTGTGCCCAGTCGTTTTACTTTTCTTTAACCCTCACAACAAGCCTGTGATAGAAGAGGAAACTGAGGCACAGAGATTAGGTAACCTGCTCGAGGTCTCAGCGCTAGTAACTCAGCCACTGATCTGCTCTGAGCCTCCTCCACGCACCTGCATTTAGCCCATTCTTTGTACCTGCCGCACGGCACTGGGAAGAGGGCTGTTCCACTGGCTCCAGTGATAAGCAGTTGAATTGCTTCCAGTTGCCACTATTTCAGATAAGGTTGCCTGAGCAGCTTTGCACACACATCTGGACACACATTGTGGATCTAGAGGACAGGCTGCCAACATTGGAACTGCTGAGTGAAAAGCGGACCTGCTTGTGTTTTCTCTAAACTTCACATTATACCATTGGCATTTCCCATGTCCTGTGGACCCGTGAGGGTCATTTCGAATGGCTCCAGCACGTTCCCTTCTATGGCTGGATCCTCACTTACTTCTCTGTCCTCATCGAGGAACACAGAGTTGTTCCCAATTTTCCCTTTTAAGGTTGTCCCTCTTTAAAATTGCTTCCAGCTGTTCTTCCTCTGTATGGCACCTCCTTTCTAGCGCTCCTGCCAGGGAAATTCCTACATTTCCATAGTTCACAGGGATCATCTCACCACTGGCTACTTGGACCATCTCTGGGGATGCAGTTGGCATTGGCCTGCCCATTTTACAGATGGGGAAGCCATCTGAGTCCCAGTGAGGTGACAGAGGGCAGGGCCTATCTTTTCCCTTTGTGCATTCCTGGTGCTTATCATAGGGCTGGTAGCATAGGCGATGGGTAAAGGAAGGTGTGAATGAATGAATAAGTGAATGATGGATGAATGGATGGGGGGCCTGAGCCTATTCACCCCATAAACCCAAAAACTCTCTGAAGGCCAGGAACGGTGGCCTACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTTTTTTGTATAGGCGGGCACCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATGCAGGAGGCGGAGGTTGCAGTGAGTCGAGAGCATGCCATTGCACACCAGCCTGGGCAAGAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAATACAAAGACTATCTGAGATACAAGAGCTAACATTTATTAAGCACTTTCCACCTAGCGTTCATCAGACCCTAAGCATTTTCTACATCTATGAACTATTTGATCCCCATAATCTTTCAAGGAGGGTTCAATTATGGTCAGCCCCCCATCTTACAGAGAAAGAAACTGAGGCATCCAGAGGTTAAGTACCTGAGGCAGGACCCAGATTCAGAGGACCAGTATGGCAGACCCCAGGGTGGCCCCGGGACCCCTACTATGCACTGCCCCCCTCGCCTCACGTTTAGCGGAGTCATTGTCCTGTCCCCTGTAGTCTTTGGACCCCAGACCATGAGCTCCTGGAGGTCCCCAGCCCGGCCTGCCCCTGCAATGGATGAATGAAGGCTCCCAGAGAGAACAGGCTGGCCCCCATCCTCCCGCGTCTCTGGGTTTGTGACTGTTGTCTCCCTTTGGCTCCTGCAGTGGTTGGGCTTGACATTCAGGATGAGATGGGCAGGCACGAAGAGGGCCACATCGACAACTCCATGAAGATCCCGCTGAACAATGGGGCAGGCTGCCGCTTCGAGGGGCAGTTCAGCATCAACAAGGTATGGAAGCCCTGCCTCAGCCCTTTCTACCTGCTCCCCTTTCCTGCTGTCTCCCCGCTCCCTGGAAACTGGTTGTGGAGGCACTCACTCGACCTGACCCTGACACAGCCCCCAGCAAGCGAGGGTTCGTGTCCAGCTGCCTGGCCGTTCCTGCTGAGAATCTGGATGGGGGTCCAGGCTCCCTGGGGTTTTAAGCCCCTGATGGCTGGTTCAGGAAGGAGCTACTCTTCTCTCCAGTGAGGGGGACAATGATGAGAAGACCTGAGGATTTGCAGCCCCCAGCCCTGGGTTCAAGTCCCAGCTCTACCCCTTCTTGGCCCCTACAAGTCACTTGACCCATCTTAGGCTGAGGGTGTGATGGCGATAATAGTATCACGATACCACCCACTTCACAAAGTTTGTGTGGGGATTAAATGAGCTAATGCAGATTCATTCATTCAGAAAAATTTTTGAATGGCACGTTCTGTGTTCCAGGGTCGGTGATAGGCTCTGGGGCAGCGTTCCTGGGCTGGTGGGGCTCCCATTCTGGTAGAGGGAGACAGTCTACAAACCAGAAAGCATCAGGGATGCTAAGTGCAGTGATGAGGAATAAAGCCAAGGGGAGTGAGATGAGGTGGGCTTGAAAGTACCTTGTCCGCTCAGAAGGACCATTCAAGGTTCACTGTTGTTTTGTCCTCAGAACCAGGAGCTTCAGATCCTAAGTCAAGTGGGTGAACGCAGTGCCCTTGGGAGGGCCGAGGCACCCGGTGGCAGCTGGCAGGGTTTTGCTCAGCACGTGCCGGCCTTCCTCGAAGCTCGGTACTGTCACAGTGGAGCCTCTCAACAACGCTGTGAGGCAGCACCATTTGACAGGTTAGGATGCTGGGGCCCAGAGAGGTTAAGTGTCTTGCCCGAGGTCACACAGCTATCTGCATGTCCCACAACTCCCCTTCCCAGCCCCAGCCAAACTGAGCCACTGGCCACTCCTGGCTTCTCCTTGTCCCTCCTGCAGCCTCTGCTCAGAACGCCCTTCCTCCAGACCCTGACACCTGAGCTGGGGTTGCAAAGTCACTGGCCACATCCAGCCCAAAGATAAATTTTGTTTGTCCAGTATAGCATTTAACTGCATCAGAACCAGTATGAAAAGACCAGGAATCCAGATTTCTGGCTTTTAAAAGTCAGAGGCTCTCACTACACTGGGTCCGTGTTCCCGCTATGACAATGACCTGGCACCAATGGGCAGTGTTCCCCTTTAGAGAGGGTGTGTGCTGTCCCTTCCCACAGTCCCTGGCAGGCGGCTGGAAGGCCAGGCCTGGTCATCTGTCAAGCAGGGTGGACTTCTTACGTGACAGTTCAGGGCTCCCTTAAGTGCTAAAGCAGAAGCTGCAAGGCTTTCTTAAGGTTTCGAGTGTTGCTGGGAGAAATCTGCTGCATGTTGTGGGTTAAAGGGAGTCTCTCACCAGCCCAGGCCCTCAGGAGGAGGAGATACCAGGAGGCAGGGATGCTGGGGGTCGTGGTTCACTGGGGGCTCTCTCTGCCCATGAGCTGCCACACAGCACCTTTGCCATGCCCCGTAATTTGGATTTTATGGTGGTTGTGATGGAAAGCCATTTGAGGGTTTTGAACAGGGAGGCAATGTAATCAGATTTATGCCTTAGAACTGGACTATCCAATAGGTTGCCACCAGCCACATAAGGCTATTTAAATTAATTCAAATTAAATGTACAATTCAGTCACTCATTCTCATCAACCACATTTCAAGTGCTCAAAGCCACGTGCTGGCTAGGGGCCACAGCGTTAGACAGTGCAGAGAGAAAGCACTTCCATCGCTGAGGAAAGTTCTGCTGGACCGCACACCCTTAGAAGGATGGCTCTGGTGGCCGGGCGCGGTGGCTCAAACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACATGGTGAAACCC
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Task1_train_9818
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The gene NKX2-5 (NK2 homeobox 5) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Atrioventricular septal defect, somatic
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CAGCCCTTTCCTCTTCCTTCCCACAGCACAGCCCAGAACCCTGTGATGGTAGACTGCCTGCACTCCACTGCCCTTGTATCCTACTGTGTCCAGTGGTAACACTGGGTATAGACAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTC
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CAGCCCTTTCCTCTTCCTTCCCACAGCACAGCCCAGAACCCTGTGATGGTAGACTGCCTGCACTCCACTGCCCTTGTATCCTACTGTGTCCAGTGGTAACACTGGGTATAGACAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGCCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTC
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Task1_train_9819
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A mutation found in NKX2-5 (NK2 homeobox 5) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Atrial septal defect 7
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CAGCCCTTTCCTCTTCCTTCCCACAGCACAGCCCAGAACCCTGTGATGGTAGACTGCCTGCACTCCACTGCCCTTGTATCCTACTGTGTCCAGTGGTAACACTGGGTATAGACAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTC
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CAGCCCTTTCCTCTTCCTTCCCACAGCACAGCCCAGAACCCTGTGATGGTAGACTGCCTGCACTCCACTGCCCTTGTATCCTACTGTGTCCAGTGGTAACACTGGGTATAGACAGTGGTTGTACTTAGAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGCCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTC
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Task1_train_9820
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A change on Chromosome 5 affects gene NKX2-5 (NK2 homeobox 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Atrial septal defect 7
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GAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGC
|
GAACCTCCTGGCATCCTCCCCTCTTCCACGGGCGTGTGGCACTTACCCAGAGAGACACCACAGGCGCTGGCGGGGCTGCATGGTTCCTGGTGAGGCAGTAGGACAGCTCCTGGTTGTGCCAGGCCAGCCTGGCGACCCTTACTGGGAGTCAGGGGAACATTGAGAAGCACTCGGTTCCTGGCTGCCACAAGCAATGCTTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGCATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGC
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Task1_train_9821
|
This alteration occurs within gene NKX2-5 (NK2 homeobox 5) located on Chromosome 5. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Atrial septal defect 7
|
TTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCT
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TTTGGCTGTGTCAGGGAGCTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGCAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCT
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Task1_train_9822
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This alteration occurs within gene NKX2-5 (NK2 homeobox 5) located on Chromosome 5. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Abnormal cardiovascular system morphology
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CTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGT
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CTCTCAGCCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACAAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGT
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Task1_train_9823
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A sequence alteration has been identified in NKX2-5 (NK2 homeobox 5) on Chromosome 5. Is it disease-inducing or harmless?
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Pathogenic; Atrioventricular septal defect, somatic
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CCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGAC
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CCGGATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTCGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGAC
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Task1_train_9824
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The gene NKX2-5 (NK2 homeobox 5), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Atrial septal defect 7
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ATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAG
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ATGCCCCAATGCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACGTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAG
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Task1_train_9825
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Consider this mutation in NKX2-5 (NK2 homeobox 5) on Chromosome 5. Is this a benign change or a disease-causing variant?
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Pathogenic; Atrial septal defect 7
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GCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGG
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GCCCCAGGCCTCCAACTCAGTGCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACATGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGG
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Task1_train_9826
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This variant affects the gene NKX2-5 (NK2 homeobox 5) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Abnormal cardiovascular system morphology
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GCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGA
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GCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCCGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGA
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Task1_train_9827
|
This sequence variant lies in NKX2-5 (NK2 homeobox 5) on Chromosome 5. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Atrial septal defect 7
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GCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGA
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GCTTCCTGGGCAAAATATCAGAAAAACCCATATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCGGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGA
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Task1_train_9828
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Gene NKX2-5 (NK2 homeobox 5) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Atrial septal defect 7
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TATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCC
|
TATCCAGTGAGAAAACAAATCCTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACGGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCC
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Task1_train_9829
|
This alteration occurs within gene NKX2-5 (NK2 homeobox 5) located on Chromosome 5. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Atrial septal defect 7
|
CTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGC
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CTCAACTCCCTCTGGCTTTGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCCCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGC
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Task1_train_9830
|
This alteration occurs within gene NKX2-5 (NK2 homeobox 5) located on Chromosome 5. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Tetralogy of Fallot
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TGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGG
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TGGTCCCTTTTAAAGACGTATCTTAAAAAGATCCTGGGTCAGTTCCTCAGGCTCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCTCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGG
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Task1_train_9831
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A variant affecting Chromosome 5, within the gene NKX2-5 (NK2 homeobox 5), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Congenital heart disease
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TCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCT
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TCTGGGGCTGGTGATAGAGGAGCTGGAGGTCCGGTCCCAGCACCTGCTGACTGGCGATCCTGGATGCGAGCAAGGTGTGTTTGTTATCCTCATTTTACAGACAAACAAGAGCAACCACCGCCGCCGCCGCCACCACCACCACCGCCACCACCACCACCGAGGCATGCAGTGGGCAAGTCCCATAACAAGCAGGGTTTAAACTTGATTTCGCTGAGCCTCAGTTTTCTCATCTATAAAATCAGGACACTAGTAACATTTGTTGGTCAGAACTATGGTGAAATTAAATGCCCTAAGGAAAGGACATCAGTAAGGTTAGGGCTTAGGGGCTCCCTTGACCATGTGAATTTATGGGGCCTCACCACAGCTGGAGGTGAGCACCATCCGCAGGACACCTCTCTGGGGTCCAGCCTCGGCACTCAGTCCCACGGGCAGCTGATGAGGCCCCGACGTGGCATCTGGGGGCATCTGAGGAGCCTGAGAACGCTTGCCAAGGGCTTGGGTTCTTGGCTTTTCCATCTGGAAACAGGCTAAGGAGTTCTTTTAAGTGGGATGATCACGGTGCTCTCCAGCTACAGAGGGCCCAGGTTCTTTTGCTGTCCATTTAATGCCCAGTGCCTGGAACCGTGCCTGGCACACATTAGGATTCAAGGAGGGGAGCTTGGGAGCACAGGGAAGGCGGTCTCTGAAGTGAGGCATCCTGAATTTAACCAGAGTTCGACTAGTACTGGCTATTTGCTCGCAGGTAAGTCATTAAACCTCTCCGGGCCTCAGCTTCTAAACTTTAGGATTTTTTTTTTTTTGGATTATTGAGGATTATATGAGACAATCTCAGAAAGTGCCCGACACGGAACCAGTATGGTTCCAGCAAGGGTTAGGTTTTATTAGTATCAATGTTATCAATTTGCTCAGGGAATGCCTGTGCCTGAGATCTGAGACCAGTCCCGGGCGGCCACCTCTCTCCTGCTTCTGAAGCGCCGCAAGCTGAAAGAAGCACACGTGCGGGGTCAACGCACTCTCTTTAATGGGAAGGGGATCGTCATTTCTTACAGCAATAGGTAAAAACATAAATACGGGTGGGTGCGTGGGCGGGCGACGGCGAGATAGCAAAGGCCCGGGCGCCCGGCCCTGGCTCGCGGAATGGGCGGCCAGATCTCAGGCCCTGCGTGCCCGAGCTCAGTCCCAGTTCCAACCGGGGGTGCCCATGGACTCTCGGAGGGCACTCCTGGGGGGACAGCTAAGACACCAGGCTGCAGGATCACTCATTGCACGCTGCATAATCGCCGCCACAAACTCTCCCGTGCGCAAGAACAAACGCGCGTGGGACAGAAAAAGTTCCTAGGTCTCCGCAGGAGTGAATGCAAAATCCAGGGGACTCAGGGTCATGTTGGGAGCCCCTTCTCCCCCCGAGAGTCAGGGAGCTGTTGAGGTGGGATCGGTCAGGGTCGCGCCACGCGGGTCCCTTCCCTACCAGGCTCGGATACCATGCAGCGTGGACACTCCCGAGTTGCTCTGCGGAATCCCGGGGCTCTGAACCGCATTCAAGTCCCCGACGCCGAAGTTCACGAAGTTGTTGTTGGCGGCGGCAGTGGCCGGCTGCGCTGGGGAAGGCCCGGCGGGGTAAGCGGCAGTGCAGCTGTAGCCAGGGCTGCAGGCCGCGCCGCCGTAACCCGGATAGGCGGGGTAGGCGTTATAACCGTAGGGATTGAGGCCCACGCCGTAGGCAGGCGCGTAGGGCGCCGAGTCCCCTAGGCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTTCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCT
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Task1_train_9832
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With a mutation on Chromosome 5 in gene NKX2-5 (NK2 homeobox 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Congenital heart disease
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GCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAGCGATGAGCAGTTTCGTGTCACCTAATATAGTCATACGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCCTGCCCAGCTTTTTTAAAGGGGCCACGACGCATTTGGAAGGGTCTCCTTTTGCTCCTGCAGCCTGCGTTTGCTCCCTAATGTGAGCCTGAAAAGCCTACCAGAGGCATGCAGAGTCAGGCCTCTGGGCAGGGCTGGATGGGTGTGGGTTTGAAGAAATATTCCTCAGCACCCAAACCAGCATGGGAGAGAGAAGGATGGGGTGGGAAGCGGTGGGGAGGAGAGTGATTTGAGGAAGGCTTTATTACTGAAGGTGGTGGGATGAGGGAGAGTCTGAATAGGAAGAGAAGCCTGGAGGACAGGGCTGGCTTTGGGGATAGCAGCAGGGCGAGATTCTGGACAATTCGGGGGTTTGGTTTGGCTTGGCCTACAGGGTCAGTCATGCCGCAGGCTCTGGGTGCTTCTGGGCGAGTCAACGAAAGTAAGGGCAAGGTGAGTGATGGCCAGGTGGGGTAGGAGTTGCTGCCTCCTACAGTAGTGTTATGCACAGCACAACTCCAGGGGGCATCAGTCACTGCCAGTACCCTCCCAGGGAAATGCCTCTCCCCTTAATAATGAAATAAATCAGGAATCCCAGCTGGTAAGCTCAGCTTCCCAGGAGACACCTGTCTTGTGGAGTGCCCCAGCTACCAGCCACCTTGTTTCCCCTGTTTGGAGGCCATCGATCCCACCTCCCTCCTTCCCGTGCCCTCCCTGCCTGGCAGCAAGGCCCTCAGGCTTCTGCCAACCTCGAGGTTTCAGGGTCCTAGCCCAGGTTTAGCTCTCAGGGAGGCGGGGCTCCTCTGAGCCCAGCTAGGCCAGGATTTCTCTGAGGCCTCTGGGCCGGACTTCCAGTGGGGCACCCCTGCGGCTCGGTCAGGCGCGTGGGGGAAGGGCAGGGCAAGTGGGGTGATCATGATCATTTTTAGCCCAGGGTCAGTAGAGTAGGGCACAGAAGTCAGACAAATCTGCCAGAGTTTCAGGAGCGCCAGCTACATGGCCAGATCCTGCCCGGGTGGCCTCATTTCTCTGGGTCCCCGCACTCCTTGGGAGGTCTGATGAAAGCTTGGGGTCTTCTCCATTCCCCAGAACACTGCAGAGAGGAGTTTTATTTTGCTTACAATTCAGGAGTCCGGGCAGGCAGAGCGGGCCCAGGTTAAGGACGCCTTCTAGAGCTGGGGATGACAGGATTTGTCAGTGGAAAAGCGTTGGCTTCTCACGGCCCTAGCTGGTACAGGGAACCGCGGGCGGGAAGCTGGGCGGGACGCGTGGACTTGCTGAGAATGGGGATGTGGAGGGCTTGGCTCTTTGCGGAGTGCGGGTTGGCAAGAGGCGCTTGGAGTAGAATAAAGGCGGCGCAGGGCCAAAAACTACCTAAAGACACAGCTCCCGCAGGCGCGCCCAAGGTGCGGAGGAAACGCTCCATGTATGGGGACAAAATAGTGTCTGTCCAGAACGTACATCTTGGGTGCTCAAACCCGACAGTGTGCCGTCTGAGACGCCGACGCAAGTGAAGTCAAGCATTGGCCTGATGTTGGGACTTTTCCTGTCCCTCATCAAAGCCACACTCCCAGGACC
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GCATGGCTTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCCCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAGCGATGAGCAGTTTCGTGTCACCTAATATAGTCATACGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCCTGCCCAGCTTTTTTAAAGGGGCCACGACGCATTTGGAAGGGTCTCCTTTTGCTCCTGCAGCCTGCGTTTGCTCCCTAATGTGAGCCTGAAAAGCCTACCAGAGGCATGCAGAGTCAGGCCTCTGGGCAGGGCTGGATGGGTGTGGGTTTGAAGAAATATTCCTCAGCACCCAAACCAGCATGGGAGAGAGAAGGATGGGGTGGGAAGCGGTGGGGAGGAGAGTGATTTGAGGAAGGCTTTATTACTGAAGGTGGTGGGATGAGGGAGAGTCTGAATAGGAAGAGAAGCCTGGAGGACAGGGCTGGCTTTGGGGATAGCAGCAGGGCGAGATTCTGGACAATTCGGGGGTTTGGTTTGGCTTGGCCTACAGGGTCAGTCATGCCGCAGGCTCTGGGTGCTTCTGGGCGAGTCAACGAAAGTAAGGGCAAGGTGAGTGATGGCCAGGTGGGGTAGGAGTTGCTGCCTCCTACAGTAGTGTTATGCACAGCACAACTCCAGGGGGCATCAGTCACTGCCAGTACCCTCCCAGGGAAATGCCTCTCCCCTTAATAATGAAATAAATCAGGAATCCCAGCTGGTAAGCTCAGCTTCCCAGGAGACACCTGTCTTGTGGAGTGCCCCAGCTACCAGCCACCTTGTTTCCCCTGTTTGGAGGCCATCGATCCCACCTCCCTCCTTCCCGTGCCCTCCCTGCCTGGCAGCAAGGCCCTCAGGCTTCTGCCAACCTCGAGGTTTCAGGGTCCTAGCCCAGGTTTAGCTCTCAGGGAGGCGGGGCTCCTCTGAGCCCAGCTAGGCCAGGATTTCTCTGAGGCCTCTGGGCCGGACTTCCAGTGGGGCACCCCTGCGGCTCGGTCAGGCGCGTGGGGGAAGGGCAGGGCAAGTGGGGTGATCATGATCATTTTTAGCCCAGGGTCAGTAGAGTAGGGCACAGAAGTCAGACAAATCTGCCAGAGTTTCAGGAGCGCCAGCTACATGGCCAGATCCTGCCCGGGTGGCCTCATTTCTCTGGGTCCCCGCACTCCTTGGGAGGTCTGATGAAAGCTTGGGGTCTTCTCCATTCCCCAGAACACTGCAGAGAGGAGTTTTATTTTGCTTACAATTCAGGAGTCCGGGCAGGCAGAGCGGGCCCAGGTTAAGGACGCCTTCTAGAGCTGGGGATGACAGGATTTGTCAGTGGAAAAGCGTTGGCTTCTCACGGCCCTAGCTGGTACAGGGAACCGCGGGCGGGAAGCTGGGCGGGACGCGTGGACTTGCTGAGAATGGGGATGTGGAGGGCTTGGCTCTTTGCGGAGTGCGGGTTGGCAAGAGGCGCTTGGAGTAGAATAAAGGCGGCGCAGGGCCAAAAACTACCTAAAGACACAGCTCCCGCAGGCGCGCCCAAGGTGCGGAGGAAACGCTCCATGTATGGGGACAAAATAGTGTCTGTCCAGAACGTACATCTTGGGTGCTCAAACCCGACAGTGTGCCGTCTGAGACGCCGACGCAAGTGAAGTCAAGCATTGGCCTGATGTTGGGACTTTTCCTGTCCCTCATCAAAGCCACACTCCCAGGACC
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Task1_train_9833
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This mutation is located in gene NKX2-5 (NK2 homeobox 5) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Ventricular septal defect 3
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TTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAGCGATGAGCAGTTTCGTGTCACCTAATATAGTCATACGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCCTGCCCAGCTTTTTTAAAGGGGCCACGACGCATTTGGAAGGGTCTCCTTTTGCTCCTGCAGCCTGCGTTTGCTCCCTAATGTGAGCCTGAAAAGCCTACCAGAGGCATGCAGAGTCAGGCCTCTGGGCAGGGCTGGATGGGTGTGGGTTTGAAGAAATATTCCTCAGCACCCAAACCAGCATGGGAGAGAGAAGGATGGGGTGGGAAGCGGTGGGGAGGAGAGTGATTTGAGGAAGGCTTTATTACTGAAGGTGGTGGGATGAGGGAGAGTCTGAATAGGAAGAGAAGCCTGGAGGACAGGGCTGGCTTTGGGGATAGCAGCAGGGCGAGATTCTGGACAATTCGGGGGTTTGGTTTGGCTTGGCCTACAGGGTCAGTCATGCCGCAGGCTCTGGGTGCTTCTGGGCGAGTCAACGAAAGTAAGGGCAAGGTGAGTGATGGCCAGGTGGGGTAGGAGTTGCTGCCTCCTACAGTAGTGTTATGCACAGCACAACTCCAGGGGGCATCAGTCACTGCCAGTACCCTCCCAGGGAAATGCCTCTCCCCTTAATAATGAAATAAATCAGGAATCCCAGCTGGTAAGCTCAGCTTCCCAGGAGACACCTGTCTTGTGGAGTGCCCCAGCTACCAGCCACCTTGTTTCCCCTGTTTGGAGGCCATCGATCCCACCTCCCTCCTTCCCGTGCCCTCCCTGCCTGGCAGCAAGGCCCTCAGGCTTCTGCCAACCTCGAGGTTTCAGGGTCCTAGCCCAGGTTTAGCTCTCAGGGAGGCGGGGCTCCTCTGAGCCCAGCTAGGCCAGGATTTCTCTGAGGCCTCTGGGCCGGACTTCCAGTGGGGCACCCCTGCGGCTCGGTCAGGCGCGTGGGGGAAGGGCAGGGCAAGTGGGGTGATCATGATCATTTTTAGCCCAGGGTCAGTAGAGTAGGGCACAGAAGTCAGACAAATCTGCCAGAGTTTCAGGAGCGCCAGCTACATGGCCAGATCCTGCCCGGGTGGCCTCATTTCTCTGGGTCCCCGCACTCCTTGGGAGGTCTGATGAAAGCTTGGGGTCTTCTCCATTCCCCAGAACACTGCAGAGAGGAGTTTTATTTTGCTTACAATTCAGGAGTCCGGGCAGGCAGAGCGGGCCCAGGTTAAGGACGCCTTCTAGAGCTGGGGATGACAGGATTTGTCAGTGGAAAAGCGTTGGCTTCTCACGGCCCTAGCTGGTACAGGGAACCGCGGGCGGGAAGCTGGGCGGGACGCGTGGACTTGCTGAGAATGGGGATGTGGAGGGCTTGGCTCTTTGCGGAGTGCGGGTTGGCAAGAGGCGCTTGGAGTAGAATAAAGGCGGCGCAGGGCCAAAAACTACCTAAAGACACAGCTCCCGCAGGCGCGCCCAAGGTGCGGAGGAAACGCTCCATGTATGGGGACAAAATAGTGTCTGTCCAGAACGTACATCTTGGGTGCTCAAACCCGACAGTGTGCCGTCTGAGACGCCGACGCAAGTGAAGTCAAGCATTGGCCTGATGTTGGGACTTTTCCTGTCCCTCATCAAAGCCACACTCCCAGGACCTGGGGCC
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TTGCCATCGCGCACCAGCACTGGCACCGCGATCCTGCGGGCAGGCGGCGGCGGCGGCGGGGGCAGCCCCACCAGCTCCAGAGTCTGGTCCTGCCGCTGCCGCTTGCACTTGTAGCGCCGGTTCTGGAACCAGATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGCCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAGCGATGAGCAGTTTCGTGTCACCTAATATAGTCATACGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCCTGCCCAGCTTTTTTAAAGGGGCCACGACGCATTTGGAAGGGTCTCCTTTTGCTCCTGCAGCCTGCGTTTGCTCCCTAATGTGAGCCTGAAAAGCCTACCAGAGGCATGCAGAGTCAGGCCTCTGGGCAGGGCTGGATGGGTGTGGGTTTGAAGAAATATTCCTCAGCACCCAAACCAGCATGGGAGAGAGAAGGATGGGGTGGGAAGCGGTGGGGAGGAGAGTGATTTGAGGAAGGCTTTATTACTGAAGGTGGTGGGATGAGGGAGAGTCTGAATAGGAAGAGAAGCCTGGAGGACAGGGCTGGCTTTGGGGATAGCAGCAGGGCGAGATTCTGGACAATTCGGGGGTTTGGTTTGGCTTGGCCTACAGGGTCAGTCATGCCGCAGGCTCTGGGTGCTTCTGGGCGAGTCAACGAAAGTAAGGGCAAGGTGAGTGATGGCCAGGTGGGGTAGGAGTTGCTGCCTCCTACAGTAGTGTTATGCACAGCACAACTCCAGGGGGCATCAGTCACTGCCAGTACCCTCCCAGGGAAATGCCTCTCCCCTTAATAATGAAATAAATCAGGAATCCCAGCTGGTAAGCTCAGCTTCCCAGGAGACACCTGTCTTGTGGAGTGCCCCAGCTACCAGCCACCTTGTTTCCCCTGTTTGGAGGCCATCGATCCCACCTCCCTCCTTCCCGTGCCCTCCCTGCCTGGCAGCAAGGCCCTCAGGCTTCTGCCAACCTCGAGGTTTCAGGGTCCTAGCCCAGGTTTAGCTCTCAGGGAGGCGGGGCTCCTCTGAGCCCAGCTAGGCCAGGATTTCTCTGAGGCCTCTGGGCCGGACTTCCAGTGGGGCACCCCTGCGGCTCGGTCAGGCGCGTGGGGGAAGGGCAGGGCAAGTGGGGTGATCATGATCATTTTTAGCCCAGGGTCAGTAGAGTAGGGCACAGAAGTCAGACAAATCTGCCAGAGTTTCAGGAGCGCCAGCTACATGGCCAGATCCTGCCCGGGTGGCCTCATTTCTCTGGGTCCCCGCACTCCTTGGGAGGTCTGATGAAAGCTTGGGGTCTTCTCCATTCCCCAGAACACTGCAGAGAGGAGTTTTATTTTGCTTACAATTCAGGAGTCCGGGCAGGCAGAGCGGGCCCAGGTTAAGGACGCCTTCTAGAGCTGGGGATGACAGGATTTGTCAGTGGAAAAGCGTTGGCTTCTCACGGCCCTAGCTGGTACAGGGAACCGCGGGCGGGAAGCTGGGCGGGACGCGTGGACTTGCTGAGAATGGGGATGTGGAGGGCTTGGCTCTTTGCGGAGTGCGGGTTGGCAAGAGGCGCTTGGAGTAGAATAAAGGCGGCGCAGGGCCAAAAACTACCTAAAGACACAGCTCCCGCAGGCGCGCCCAAGGTGCGGAGGAAACGCTCCATGTATGGGGACAAAATAGTGTCTGTCCAGAACGTACATCTTGGGTGCTCAAACCCGACAGTGTGCCGTCTGAGACGCCGACGCAAGTGAAGTCAAGCATTGGCCTGATGTTGGGACTTTTCCTGTCCCTCATCAAAGCCACACTCCCAGGACCTGGGGCC
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Task1_train_9834
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This is a variant in NKX2-5 (NK2 homeobox 5), located on Chromosome 5. Is this mutation a likely cause of disease or not?
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Pathogenic; Atrial septal defect 7
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GATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTTTGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAGCGATGAGCAGTTTCGTGTCACCTAATATAGTCATACGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCCTGCCCAGCTTTTTTAAAGGGGCCACGACGCATTTGGAAGGGTCTCCTTTTGCTCCTGCAGCCTGCGTTTGCTCCCTAATGTGAGCCTGAAAAGCCTACCAGAGGCATGCAGAGTCAGGCCTCTGGGCAGGGCTGGATGGGTGTGGGTTTGAAGAAATATTCCTCAGCACCCAAACCAGCATGGGAGAGAGAAGGATGGGGTGGGAAGCGGTGGGGAGGAGAGTGATTTGAGGAAGGCTTTATTACTGAAGGTGGTGGGATGAGGGAGAGTCTGAATAGGAAGAGAAGCCTGGAGGACAGGGCTGGCTTTGGGGATAGCAGCAGGGCGAGATTCTGGACAATTCGGGGGTTTGGTTTGGCTTGGCCTACAGGGTCAGTCATGCCGCAGGCTCTGGGTGCTTCTGGGCGAGTCAACGAAAGTAAGGGCAAGGTGAGTGATGGCCAGGTGGGGTAGGAGTTGCTGCCTCCTACAGTAGTGTTATGCACAGCACAACTCCAGGGGGCATCAGTCACTGCCAGTACCCTCCCAGGGAAATGCCTCTCCCCTTAATAATGAAATAAATCAGGAATCCCAGCTGGTAAGCTCAGCTTCCCAGGAGACACCTGTCTTGTGGAGTGCCCCAGCTACCAGCCACCTTGTTTCCCCTGTTTGGAGGCCATCGATCCCACCTCCCTCCTTCCCGTGCCCTCCCTGCCTGGCAGCAAGGCCCTCAGGCTTCTGCCAACCTCGAGGTTTCAGGGTCCTAGCCCAGGTTTAGCTCTCAGGGAGGCGGGGCTCCTCTGAGCCCAGCTAGGCCAGGATTTCTCTGAGGCCTCTGGGCCGGACTTCCAGTGGGGCACCCCTGCGGCTCGGTCAGGCGCGTGGGGGAAGGGCAGGGCAAGTGGGGTGATCATGATCATTTTTAGCCCAGGGTCAGTAGAGTAGGGCACAGAAGTCAGACAAATCTGCCAGAGTTTCAGGAGCGCCAGCTACATGGCCAGATCCTGCCCGGGTGGCCTCATTTCTCTGGGTCCCCGCACTCCTTGGGAGGTCTGATGAAAGCTTGGGGTCTTCTCCATTCCCCAGAACACTGCAGAGAGGAGTTTTATTTTGCTTACAATTCAGGAGTCCGGGCAGGCAGAGCGGGCCCAGGTTAAGGACGCCTTCTAGAGCTGGGGATGACAGGATTTGTCAGTGGAAAAGCGTTGGCTTCTCACGGCCCTAGCTGGTACAGGGAACCGCGGGCGGGAAGCTGGGCGGGACGCGTGGACTTGCTGAGAATGGGGATGTGGAGGGCTTGGCTCTTTGCGGAGTGCGGGTTGGCAAGAGGCGCTTGGAGTAGAATAAAGGCGGCGCAGGGCCAAAAACTACCTAAAGACACAGCTCCCGCAGGCGCGCCCAAGGTGCGGAGGAAACGCTCCATGTATGGGGACAAAATAGTGTCTGTCCAGAACGTACATCTTGGGTGCTCAAACCCGACAGTGTGCCGTCTGAGACGCCGACGCAAGTGAAGTCAAGCATTGGCCTGATGTTGGGACTTTTCCTGTCCCTCATCAAAGCCACACTCCCAGGACCTGGGGCCTCCATGCTGGGGAGAGAGGTGAGCCCCGCAGGGCAGCCCAGGAGGCGCGCAACGCCCTGACCCCGGCTTCTAGGCGCCAGCCGTCAGTAACAGGCCTGGGCTGCCACGCCGAAATCACGCCTCGAGTTTCT
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GATCTTGACCTGCGTGGACGTGAGTTTCAGCACGCTGGCCAGCTGGTCGCGTTCGGGGGCCGACAGGTACCGCTGCTGCTTGAAGCGCCGCTCCAGCTCATAGACCTGCGCCTGCGAGAAGAGCACGCGCGGCTTCCTCCGCCGTCGCGCCCGGGGCCGCTCCGCGTTGTCCGCCTCTGTCTTCTCCAGCTCCACCGCCTTCTGCAGCGCGCACAGCTCTGAGGGGGAACAGAGAGGCAGAGAGACGCTTGGTAAGAGCGGCTTGACCTACGGAGCGCGGCCGCACAGTAATGGTAAGGGATCCTCGTGGAGGCCACTGTGTCCTGCCTGGAGCGCCCAGCTGGCTGCGGCTCACTCTGCCAAGTGCACTGGGAGCCACCGACACGTCTCACTCAGCATTTGTAGAAAGTCAGGCTGGCTCAAGGCGCTGGAGAACAAAACGGGAGGTCTCTGCCCTCGGGGCAGTTCACACCCTGGTGAGGGAGACAGACGGTGACTTAAAATTTCAGGCTGCAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTGATGCTCTGGGGTGAACTGAATTAGGGCTAGTTTGGTTTGAGAAGTTAAATGAACAGAGGCCGAGGCCTCACTGCTAGGGACGGTCTTATCTCAAAATTAAGGAATCAAGAAACAGAAGGCCAGGGAGTGTTGGTTTGGTGATCGGAGGCTCCAGCCTGGCCGCAGCAGGGTTTGCGCAGTGTCCAAGAAGCTGCGGGTGGGCAGGCGGCCTCGGAACCTGCCTTGCTGGCTTCCTCGAATTGGTAGCGATCAGTTCTAGCCGCCGTGCCCGCCCGAATTTGTTCCCAGGCCTCTGCTCCTCAACAAACCTATGAATTCTCTCCCGGCTGGCAGCGGCCCTTCGCCCAGCGCTTCGCCCAGCGCCTGCGGCCTCCCGGGAATCGCCCGGGCTCCTGCCTTGGGCTGGGGGGTCTCCCAGAAGGCCCCTTTCTGCAGCGGGGCCGGCCTCCCTCCCCGATCCTGGGATGGCCTGCGGGATGATCCCGCACTCATCTCGTCCACTCCCTTGTGCCCGCGGTAGCGCAGCATTTCCTAACTTTTCCACGAGGGAACCTCTCCGCCCTGGCCGCGCCGGCAAGTTGTGCTGAAAAAATAAAGTGAAGTCAGATTCCTGAGGGTCCGCAGTATCCCATTTTAAAATCAAGGCCCTCGATCCCAGACTCCACTTTCCTGGCGCAAAGAAAGAAAGGCACCAGAAACCCGGGTCGTGGGTGGGCTGCAGAAAGAAGGTCCAGGACCCTCCTCCGATTGTACGCAAAAGCTGTCTGGTGAGCAACATTTCAATTTCTGTTTAGCGGTTCTCATCAGATCTTTAAAAAGATTCGTAAATCCAAAGGAGATTTAAAAACAGAGATTATCTGCTTGTCTCTCTGTTCTGTCTACCATAAACCGATTTCTCAACTTCCTACCAGACCCAGGAGCAGAGCCGAAGCCGCCCGGGGCTTTGTTAGGCCGGGGGGAAACGTTTTTTGGTCTCTTGCTTCTGATCCTTTCAATCCGGCATTTCCTCTGAACCTCCGATTGGACGCGGGGCGCGGGAGCCTGGCGACAACACCAGGCATCTTACATTCTGAACCCCCCGCCGCAGCCCAGCCCTCGGCCCAAGGGCGCGTGTCTCCTCCTCCTGGCCCTGAGTTTCTTGGGGACGAAAGCGACCCAGGAGGGGAGAAGGGGGCCTGTGTTTCCTCCTCACCTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCAGGCTGCGCTGCTGCTGTTCCAGGTTTAGGATGTCTATGACTGAGAAGGGCGTGGGCGTGAGAGCAGGGCTGGGGAACATGGTGGCAGCGCCAGTCTCACAGCGCCAGGTGGGCGGCAGAAAGCGGCGCTGCCCACGGCCCCTGGCAGCTTCCCTGCATGGTGCCGCCGCCCGCCCGCGCACCCGTCGGCCAGCTCTGGATGTGTCCGGGCAGCAGGTAGCGCTGAGCACAAGGGGCAGGAGAGGCGGGACCAGGCCAGAGGAGGGGGACTCAGCCTGCCATTGGGCCAGGGGCCTCGATGACAGGAGCGATGAGCAGTTTCGTGTCACCTAATATAGTCATACGGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCCTGCCCAGCTTTTTTAAAGGGGCCACGACGCATTTGGAAGGGTCTCCTTTTGCTCCTGCAGCCTGCGTTTGCTCCCTAATGTGAGCCTGAAAAGCCTACCAGAGGCATGCAGAGTCAGGCCTCTGGGCAGGGCTGGATGGGTGTGGGTTTGAAGAAATATTCCTCAGCACCCAAACCAGCATGGGAGAGAGAAGGATGGGGTGGGAAGCGGTGGGGAGGAGAGTGATTTGAGGAAGGCTTTATTACTGAAGGTGGTGGGATGAGGGAGAGTCTGAATAGGAAGAGAAGCCTGGAGGACAGGGCTGGCTTTGGGGATAGCAGCAGGGCGAGATTCTGGACAATTCGGGGGTTTGGTTTGGCTTGGCCTACAGGGTCAGTCATGCCGCAGGCTCTGGGTGCTTCTGGGCGAGTCAACGAAAGTAAGGGCAAGGTGAGTGATGGCCAGGTGGGGTAGGAGTTGCTGCCTCCTACAGTAGTGTTATGCACAGCACAACTCCAGGGGGCATCAGTCACTGCCAGTACCCTCCCAGGGAAATGCCTCTCCCCTTAATAATGAAATAAATCAGGAATCCCAGCTGGTAAGCTCAGCTTCCCAGGAGACACCTGTCTTGTGGAGTGCCCCAGCTACCAGCCACCTTGTTTCCCCTGTTTGGAGGCCATCGATCCCACCTCCCTCCTTCCCGTGCCCTCCCTGCCTGGCAGCAAGGCCCTCAGGCTTCTGCCAACCTCGAGGTTTCAGGGTCCTAGCCCAGGTTTAGCTCTCAGGGAGGCGGGGCTCCTCTGAGCCCAGCTAGGCCAGGATTTCTCTGAGGCCTCTGGGCCGGACTTCCAGTGGGGCACCCCTGCGGCTCGGTCAGGCGCGTGGGGGAAGGGCAGGGCAAGTGGGGTGATCATGATCATTTTTAGCCCAGGGTCAGTAGAGTAGGGCACAGAAGTCAGACAAATCTGCCAGAGTTTCAGGAGCGCCAGCTACATGGCCAGATCCTGCCCGGGTGGCCTCATTTCTCTGGGTCCCCGCACTCCTTGGGAGGTCTGATGAAAGCTTGGGGTCTTCTCCATTCCCCAGAACACTGCAGAGAGGAGTTTTATTTTGCTTACAATTCAGGAGTCCGGGCAGGCAGAGCGGGCCCAGGTTAAGGACGCCTTCTAGAGCTGGGGATGACAGGATTTGTCAGTGGAAAAGCGTTGGCTTCTCACGGCCCTAGCTGGTACAGGGAACCGCGGGCGGGAAGCTGGGCGGGACGCGTGGACTTGCTGAGAATGGGGATGTGGAGGGCTTGGCTCTTTGCGGAGTGCGGGTTGGCAAGAGGCGCTTGGAGTAGAATAAAGGCGGCGCAGGGCCAAAAACTACCTAAAGACACAGCTCCCGCAGGCGCGCCCAAGGTGCGGAGGAAACGCTCCATGTATGGGGACAAAATAGTGTCTGTCCAGAACGTACATCTTGGGTGCTCAAACCCGACAGTGTGCCGTCTGAGACGCCGACGCAAGTGAAGTCAAGCATTGGCCTGATGTTGGGACTTTTCCTGTCCCTCATCAAAGCCACACTCCCAGGACCTGGGGCCTCCATGCTGGGGAGAGAGGTGAGCCCCGCAGGGCAGCCCAGGAGGCGCGCAACGCCCTGACCCCGGCTTCTAGGCGCCAGCCGTCAGTAACAGGCCTGGGCTGCCACGCCGAAATCACGCCTCGAGTTTCT
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Task1_train_9835
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A mutation on Chromosome 5 affecting MSX2 (msh homeobox 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Cranium bifidum occultum
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CCTGGGGCGAGAGGGAGCTACCCGCCCGGGCCTGATTTTGTTATTTGGAGGAAGTAGGATAAACGCTGTTTTGCCTTATATAATCGCATCCTTCCTCTGGCTGGTTTAAAATTAGGTGGGGGTGGAGGGATGGGGAGTGTTGCATTGGGAGGAAGCCTCATAGCTTCATGGTTTTGATACACATGTGCGATCCCGGTCACCTGGATTTCATAATTCAAATGTAACCCGAAGGACCAGCTGGAATTACCCTGCCCAGGCGCACAGTGCTTCAAAACCCCACGTAGAGCCAGGAGCAAGAGTATATACACGCTAGGAACTTGGTATCTGAGCTGAGACACCTGAGTCCTCCTGAGGGCCCGGCCTAGTTTAGAAAGGGCGAGAATTTTGCAGGTCTCTTGAGAGTCTCTGACAGTGTTGTTAATTTGTAAATTAAGAAGCTGGCTCCCCGGCTGTCTAGTAACTTAGGGATTAGCAAATGCAAAAGTATAGACTTTTATGGTAGTTTCTTATCCTTCCCTTTCCCAGATTTCTGTTCTTTGGTTGGTTACAAAGCCTCTTATCTCTTTTTGATTCAGTAAAGTGATGGGTAATAATGCGACACTGGAACAAATCCATCTCTTGTTGGAAATGGAAGCTGGGTTGGGACTTGTGCTGTGTCACCCTCAAGTATGAAGTGTAAACTCTTTCTTGGGCCACCAAAGTAACTAAACAAGAAATGCAACATTCTCCCATGAATACATTAGAGTTAATACTGTGGCCACATTTGGAAAATTAGCATAGCTCGTAAAAGCCAAATGCAGAAAATTAATTGTTAAGTATTCTATCACCACAGCTCTATCCTCCTCCGCCCACCCACCCTTGAGGAAGACAAGCCCAAAGTTAGTTGATGCTATGGAATCACAAGGATGTCCCAGTCCGTGATTTGCTGTAATTGAATCCATTTTAAATGTGGAGTCTGGATGCTGTTGGCATACCTTTATTTTGCTTGTTTTTCCCCCTGACAAACAAATCATTTACACATTTGCCCGAAGCCATAGAATGGGTAGAGGGGATGACTAAGATGTCATCACGTGCTCTCAATTTGGAGGCAGCATGATTTCCCCTGACATTTACATTTATGGGCTAGCTAATTTTTCCCTTCGTCTTAGTAAAGTTTATATTACAGAAGCGCCCAGCCAAGAACCTTATCCCACATCCAGATCTGTAAAATGATGTTCAGATTTTATAATCTGTGGACTGGATGCAATGACAGCTTGTGACTGTTTATTGCGTGGGACTGCCCCCAAATTCAAAGATGCTATTAATTTACCACAGACCTTATCTGCACGATTATCCTTCATAAATATGCTGACGCAATCCACTTTTTCTGGTTCAGAGAGGAGACCAAGGGAAACAGCTAACCCGGTTGCTAAAACCTTTTTCATTTTCCTTCCCATATGTGATTGTCTCCATGTCCAAGGGAGGCTGGGCTAATCATGAACCTGGTCTCCCATTTTTAAAGAGAAGATAAATTATGCTCAGAAGAGATAGCGGTTCATTTCTCACCGACCACTTGATTCCCTTGTCTTACATTAAATGTTCTATTTCTGTTATCTCTAATGCTGTTTGTTTTCCATATAGAAGGTTCAGTTACACCATTACATTTCCAAAACTTTTCTTAAAAAACTCATTTTTAAAAAACGAAGCAACTTACCCATTTATATATGGTCCCCCTCCCCCCAAGAAACACACATAGTTTTGACAAAGGTACCTTTTTCAAAGATGAAACAAAGTATGTCTTTCCATACATAGATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTATGTATATATAGATTTTTTTAAAGCTAAGTGCTTTCAGTTGAGAGGGGAGGCCCGAAAGGAAAAAACCTAGAGAGATGACGGGGGAGATGGGTTTTTTTTAGTATTATTTTAATGTAACTTTCTTTTGCTAATCCGCTCCTCTCTCTGTTCTCTAGGACATATGAGCCCTACCACCTGCACCCTGAGGAAACACAAGACCAATCGGAAGCCGCGCACGCCCTTTACCACATCCCAGCTCCTCGCCCTGGAGCGCAAGTTCCGTCAGAAACAGTACCTCTCCATTGCAGAGCGTGCAGAGTTCTCCAGCTCTCTGAACCTCACAGAGACCCAGGTCAAAATCTGGTTCCAGAACCGAAGGGCCAAGGCGAAAAGACTGCAGGAGGCAGAACTGGAAAAGCTGAAAATGGCTGCAAAACCTATGCTGCCCTCCAGCTTCAGTCTCCCTTTCCCCATCAGCTCGCCCCTGCAGGCAGCGTCCATATATGGAGCATCCTACCCGTTCCATAGACCTGTGCTTCCCATCCCGCCTGTGGGACTCTATGCCACGCCAGTGGGATATGGCATGTACCACCTGTCCTAAGGAAGACCAGATCAATAGACTCCATGATGGATGCTTGTTTCAAAGGGTTTCCTCTCCCTCTCCACGAAGGCAGTACCAGCCAGTACTCCTGCTCTGCTAACCCTGCGTGCACCACCCTAAGCGGCTAGGCTGACAGGGCCACACGACATAGCTGAAATTTGTTCTGTAGGCGGAGGCACCAAGCCCTGTTTTCTTGGTGTAATCTTCCAGATGCCCCCTTTTCCTTTCACAAAGATTGGCTCTGATGGTTTTTATGTATAAATATATATATATAATAAAATATAATACATTTTTATACAGCAGACGTAAAAATTCAAATTATTTTAAAAGGCAAAATTTATATACATATGTGCTTTTTTTCTATATCTCACCTTCCCAAAAGACACTGTGTAAGTCCATTTGTTGTATTTTCTTAAAGAGGGAGACAAATTATTTGCAAAATGTGCTAAAGTCAATGATTTTTACGGGATTATTGACTTCTGCTTATGGAAAACAAAGAAACAGACACAATGCACACAGAAAATATTAGATATGGAGAGATTATTCAAAGTGAAGGGGACACATCATATTTCTGCATTTTACTTGCATTAAAAGAAACCTCTTTATATACTACAGTTGTTCCTATCTCTCCCCCGCCCCCCACCGCCCCACCACACACATATTTTTAAAGTTTTTCCTTTTTTAAGAATATTTTTGTAAGACCAATACCTGGGATGAGAAGAATCCTGAGACTGCCTGGAGGTGAGGTAGAAAATTAGAAATACTTCCTAATTCTTCTCAAGGCTGTTGGTAACTTTATTTCAGATAATTGGAGAGTAAAATGTTAAAACCTGTTGAGAGGAATTGATGGTTTCTGAGAAATACTAGGTACATTCATCCTCACAGATTGCAAAGGTGATTTGGGTGGGGGTTTAGTAATTTTCTGCTTAAAAAATGAGTATCTTGTAACCATTACCTATATGCTAAATATTCTTGAACAATTAGTAGATCCAGAAAGAAAAAAAAATATGCTTTCTCTGTGTGTGTACCTGTTGTATGTCCTAAACTTATTAGAAAATTTTATATACTTTTTTACATGTTGGGGGGCAGAAGGTAAAGCCATGTTTTGACTTGGTGAAAATGGGATTGTCAAACAGCCCATTAAGTTCCCTGGTATTTCACCTTCCTGTCCATCTGTCCCCTCCCTCCGGTATACCTTTATCCCTTTGAAAGGGTGCTTGTACAATTTGATATATTTTATTGAAGAGTTATCTCTTATTCTGAATTAAATTAAGCATTTGTTTTATTGCAGTAAAGTTTGTCCAAACTCACAATTATTTTAAGAGGTGTTCTCTGTTCTTAGCTGGGCTTAGCTCGAAAGTGCTACCCACATGAGGGGGAAGCTGGTCTTTTTTAATATTTTAATGTAAGTCAACCAAGAGTTGTGGCCAGATTCAGCCATGTTGGGGTGATTGGTGGTGGTGGGGAGTGAACTGAAACTACTGAAATACTTTGAAATGTTTCCTCTGGCAGCTTGTTACTTATGGAAAAGAGGTGGAATTGCTGCGAGGAGTTTTTCAGAAAAAGTACAGTGAAAGATAAGCTTTAAATAAGTGGTGAGGCGGAGATCGGCCAGCATCTAAATCATTTGTACATGATCAAGGGAAAATCTTGAACTTGAAATCTCCCAGCTACCAACACATCAAA
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CCTGGGGCGAGAGGGAGCTACCCGCCCGGGCCTGATTTTGTTATTTGGAGGAAGTAGGATAAACGCTGTTTTGCCTTATATAATCGCATCCTTCCTCTGGCTGGTTTAAAATTAGGTGGGGGTGGAGGGATGGGGAGTGTTGCATTGGGAGGAAGCCTCATAGCTTCATGGTTTTGATACACATGTGCGATCCCGGTCACCTGGATTTCATAATTCAAATGTAACCCGAAGGACCAGCTGGAATTACCCTGCCCAGGCGCACAGTGCTTCAAAACCCCACGTAGAGCCAGGAGCAAGAGTATATACACGCTAGGAACTTGGTATCTGAGCTGAGACACCTGAGTCCTCCTGAGGGCCCGGCCTAGTTTAGAAAGGGCGAGAATTTTGCAGGTCTCTTGAGAGTCTCTGACAGTGTTGTTAATTTGTAAATTAAGAAGCTGGCTCCCCGGCTGTCTAGTAACTTAGGGATTAGCAAATGCAAAAGTATAGACTTTTATGGTAGTTTCTTATCCTTCCCTTTCCCAGATTTCTGTTCTTTGGTTGGTTACAAAGCCTCTTATCTCTTTTTGATTCAGTAAAGTGATGGGTAATAATGCGACACTGGAACAAATCCATCTCTTGTTGGAAATGGAAGCTGGGTTGGGACTTGTGCTGTGTCACCCTCAAGTATGAAGTGTAAACTCTTTCTTGGGCCACCAAAGTAACTAAACAAGAAATGCAACATTCTCCCATGAATACATTAGAGTTAATACTGTGGCCACATTTGGAAAATTAGCATAGCTCGTAAAAGCCAAATGCAGAAAATTAATTGTTAAGTATTCTATCACCACAGCTCTATCCTCCTCCGCCCACCCACCCTTGAGGAAGACAAGCCCAAAGTTAGTTGATGCTATGGAATCACAAGGATGTCCCAGTCCGTGATTTGCTGTAATTGAATCCATTTTAAATGTGGAGTCTGGATGCTGTTGGCATACCTTTATTTTGCTTGTTTTTCCCCCTGACAAACAAATCATTTACACATTTGCCCGAAGCCATAGAATGGGTAGAGGGGATGACTAAGATGTCATCACGTGCTCTCAATTTGGAGGCAGCATGATTTCCCCTGACATTTACATTTATGGGCTAGCTAATTTTTCCCTTCGTCTTAGTAAAGTTTATATTACAGAAGCGCCCAGCCAAGAACCTTATCCCACATCCAGATCTGTAAAATGATGTTCAGATTTTATAATCTGTGGACTGGATGCAATGACAGCTTGTGACTGTTTATTGCGTGGGACTGCCCCCAAATTCAAAGATGCTATTAATTTACCACAGACCTTATCTGCACGATTATCCTTCATAAATATGCTGACGCAATCCACTTTTTCTGGTTCAGAGAGGAGACCAAGGGAAACAGCTAACCCGGTTGCTAAAACCTTTTTCATTTTCCTTCCCATATGTGATTGTCTCCATGTCCAAGGGAGGCTGGGCTAATCATGAACCTGGTCTCCCATTTTTAAAGAGAAGATAAATTATGCTCAGAAGAGATAGCGGTTCATTTCTCACCGACCACTTGATTCCCTTGTCTTACATTAAATGTTCTATTTCTGTTATCTCTAATGCTGTTTGTTTTCCATATAGAAGGTTCAGTTACACCATTACATTTCCAAAACTTTTCTTAAAAAACTCATTTTTAAAAAACGAAGCAACTTACCCATTTATATATGGTCCCCCTCCCCCCAAGAAACACACATAGTTTTGACAAAGGTACCTTTTTCAAAGATGAAACAAAGTATGTCTTTCCATACATAGATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTATGTATATATAGATTTTTTTAAAGCTAAGTGCTTTCAGTTGAGAGGGGAGGCCCGAAAGGAAAAAACCTAGAGAGATGACGGGGGAGATGGGTTTTTTTTAGTATTATTTTAATGTAACTTTCTTTTGCTAATCCGCTCCTCTCTCTGTTCTCTAGGACATATGAGCCCTACCACCTGCACCCTGAGGAAACACAAGACCAATCGGAAGCCGCGCACGCACTTTACCACATCCCAGCTCCTCGCCCTGGAGCGCAAGTTCCGTCAGAAACAGTACCTCTCCATTGCAGAGCGTGCAGAGTTCTCCAGCTCTCTGAACCTCACAGAGACCCAGGTCAAAATCTGGTTCCAGAACCGAAGGGCCAAGGCGAAAAGACTGCAGGAGGCAGAACTGGAAAAGCTGAAAATGGCTGCAAAACCTATGCTGCCCTCCAGCTTCAGTCTCCCTTTCCCCATCAGCTCGCCCCTGCAGGCAGCGTCCATATATGGAGCATCCTACCCGTTCCATAGACCTGTGCTTCCCATCCCGCCTGTGGGACTCTATGCCACGCCAGTGGGATATGGCATGTACCACCTGTCCTAAGGAAGACCAGATCAATAGACTCCATGATGGATGCTTGTTTCAAAGGGTTTCCTCTCCCTCTCCACGAAGGCAGTACCAGCCAGTACTCCTGCTCTGCTAACCCTGCGTGCACCACCCTAAGCGGCTAGGCTGACAGGGCCACACGACATAGCTGAAATTTGTTCTGTAGGCGGAGGCACCAAGCCCTGTTTTCTTGGTGTAATCTTCCAGATGCCCCCTTTTCCTTTCACAAAGATTGGCTCTGATGGTTTTTATGTATAAATATATATATATAATAAAATATAATACATTTTTATACAGCAGACGTAAAAATTCAAATTATTTTAAAAGGCAAAATTTATATACATATGTGCTTTTTTTCTATATCTCACCTTCCCAAAAGACACTGTGTAAGTCCATTTGTTGTATTTTCTTAAAGAGGGAGACAAATTATTTGCAAAATGTGCTAAAGTCAATGATTTTTACGGGATTATTGACTTCTGCTTATGGAAAACAAAGAAACAGACACAATGCACACAGAAAATATTAGATATGGAGAGATTATTCAAAGTGAAGGGGACACATCATATTTCTGCATTTTACTTGCATTAAAAGAAACCTCTTTATATACTACAGTTGTTCCTATCTCTCCCCCGCCCCCCACCGCCCCACCACACACATATTTTTAAAGTTTTTCCTTTTTTAAGAATATTTTTGTAAGACCAATACCTGGGATGAGAAGAATCCTGAGACTGCCTGGAGGTGAGGTAGAAAATTAGAAATACTTCCTAATTCTTCTCAAGGCTGTTGGTAACTTTATTTCAGATAATTGGAGAGTAAAATGTTAAAACCTGTTGAGAGGAATTGATGGTTTCTGAGAAATACTAGGTACATTCATCCTCACAGATTGCAAAGGTGATTTGGGTGGGGGTTTAGTAATTTTCTGCTTAAAAAATGAGTATCTTGTAACCATTACCTATATGCTAAATATTCTTGAACAATTAGTAGATCCAGAAAGAAAAAAAAATATGCTTTCTCTGTGTGTGTACCTGTTGTATGTCCTAAACTTATTAGAAAATTTTATATACTTTTTTACATGTTGGGGGGCAGAAGGTAAAGCCATGTTTTGACTTGGTGAAAATGGGATTGTCAAACAGCCCATTAAGTTCCCTGGTATTTCACCTTCCTGTCCATCTGTCCCCTCCCTCCGGTATACCTTTATCCCTTTGAAAGGGTGCTTGTACAATTTGATATATTTTATTGAAGAGTTATCTCTTATTCTGAATTAAATTAAGCATTTGTTTTATTGCAGTAAAGTTTGTCCAAACTCACAATTATTTTAAGAGGTGTTCTCTGTTCTTAGCTGGGCTTAGCTCGAAAGTGCTACCCACATGAGGGGGAAGCTGGTCTTTTTTAATATTTTAATGTAAGTCAACCAAGAGTTGTGGCCAGATTCAGCCATGTTGGGGTGATTGGTGGTGGTGGGGAGTGAACTGAAACTACTGAAATACTTTGAAATGTTTCCTCTGGCAGCTTGTTACTTATGGAAAAGAGGTGGAATTGCTGCGAGGAGTTTTTCAGAAAAAGTACAGTGAAAGATAAGCTTTAAATAAGTGGTGAGGCGGAGATCGGCCAGCATCTAAATCATTTGTACATGATCAAGGGAAAATCTTGAACTTGAAATCTCCCAGCTACCAACACATCAAA
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Task1_train_9836
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A variant on Chromosome 5 in gene MSX2 (msh homeobox 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Parietal foramina 1
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GCCTTATATAATCGCATCCTTCCTCTGGCTGGTTTAAAATTAGGTGGGGGTGGAGGGATGGGGAGTGTTGCATTGGGAGGAAGCCTCATAGCTTCATGGTTTTGATACACATGTGCGATCCCGGTCACCTGGATTTCATAATTCAAATGTAACCCGAAGGACCAGCTGGAATTACCCTGCCCAGGCGCACAGTGCTTCAAAACCCCACGTAGAGCCAGGAGCAAGAGTATATACACGCTAGGAACTTGGTATCTGAGCTGAGACACCTGAGTCCTCCTGAGGGCCCGGCCTAGTTTAGAAAGGGCGAGAATTTTGCAGGTCTCTTGAGAGTCTCTGACAGTGTTGTTAATTTGTAAATTAAGAAGCTGGCTCCCCGGCTGTCTAGTAACTTAGGGATTAGCAAATGCAAAAGTATAGACTTTTATGGTAGTTTCTTATCCTTCCCTTTCCCAGATTTCTGTTCTTTGGTTGGTTACAAAGCCTCTTATCTCTTTTTGATTCAGTAAAGTGATGGGTAATAATGCGACACTGGAACAAATCCATCTCTTGTTGGAAATGGAAGCTGGGTTGGGACTTGTGCTGTGTCACCCTCAAGTATGAAGTGTAAACTCTTTCTTGGGCCACCAAAGTAACTAAACAAGAAATGCAACATTCTCCCATGAATACATTAGAGTTAATACTGTGGCCACATTTGGAAAATTAGCATAGCTCGTAAAAGCCAAATGCAGAAAATTAATTGTTAAGTATTCTATCACCACAGCTCTATCCTCCTCCGCCCACCCACCCTTGAGGAAGACAAGCCCAAAGTTAGTTGATGCTATGGAATCACAAGGATGTCCCAGTCCGTGATTTGCTGTAATTGAATCCATTTTAAATGTGGAGTCTGGATGCTGTTGGCATACCTTTATTTTGCTTGTTTTTCCCCCTGACAAACAAATCATTTACACATTTGCCCGAAGCCATAGAATGGGTAGAGGGGATGACTAAGATGTCATCACGTGCTCTCAATTTGGAGGCAGCATGATTTCCCCTGACATTTACATTTATGGGCTAGCTAATTTTTCCCTTCGTCTTAGTAAAGTTTATATTACAGAAGCGCCCAGCCAAGAACCTTATCCCACATCCAGATCTGTAAAATGATGTTCAGATTTTATAATCTGTGGACTGGATGCAATGACAGCTTGTGACTGTTTATTGCGTGGGACTGCCCCCAAATTCAAAGATGCTATTAATTTACCACAGACCTTATCTGCACGATTATCCTTCATAAATATGCTGACGCAATCCACTTTTTCTGGTTCAGAGAGGAGACCAAGGGAAACAGCTAACCCGGTTGCTAAAACCTTTTTCATTTTCCTTCCCATATGTGATTGTCTCCATGTCCAAGGGAGGCTGGGCTAATCATGAACCTGGTCTCCCATTTTTAAAGAGAAGATAAATTATGCTCAGAAGAGATAGCGGTTCATTTCTCACCGACCACTTGATTCCCTTGTCTTACATTAAATGTTCTATTTCTGTTATCTCTAATGCTGTTTGTTTTCCATATAGAAGGTTCAGTTACACCATTACATTTCCAAAACTTTTCTTAAAAAACTCATTTTTAAAAAACGAAGCAACTTACCCATTTATATATGGTCCCCCTCCCCCCAAGAAACACACATAGTTTTGACAAAGGTACCTTTTTCAAAGATGAAACAAAGTATGTCTTTCCATACATAGATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTATGTATATATAGATTTTTTTAAAGCTAAGTGCTTTCAGTTGAGAGGGGAGGCCCGAAAGGAAAAAACCTAGAGAGATGACGGGGGAGATGGGTTTTTTTTAGTATTATTTTAATGTAACTTTCTTTTGCTAATCCGCTCCTCTCTCTGTTCTCTAGGACATATGAGCCCTACCACCTGCACCCTGAGGAAACACAAGACCAATCGGAAGCCGCGCACGCCCTTTACCACATCCCAGCTCCTCGCCCTGGAGCGCAAGTTCCGTCAGAAACAGTACCTCTCCATTGCAGAGCGTGCAGAGTTCTCCAGCTCTCTGAACCTCACAGAGACCCAGGTCAAAATCTGGTTCCAGAACCGAAGGGCCAAGGCGAAAAGACTGCAGGAGGCAGAACTGGAAAAGCTGAAAATGGCTGCAAAACCTATGCTGCCCTCCAGCTTCAGTCTCCCTTTCCCCATCAGCTCGCCCCTGCAGGCAGCGTCCATATATGGAGCATCCTACCCGTTCCATAGACCTGTGCTTCCCATCCCGCCTGTGGGACTCTATGCCACGCCAGTGGGATATGGCATGTACCACCTGTCCTAAGGAAGACCAGATCAATAGACTCCATGATGGATGCTTGTTTCAAAGGGTTTCCTCTCCCTCTCCACGAAGGCAGTACCAGCCAGTACTCCTGCTCTGCTAACCCTGCGTGCACCACCCTAAGCGGCTAGGCTGACAGGGCCACACGACATAGCTGAAATTTGTTCTGTAGGCGGAGGCACCAAGCCCTGTTTTCTTGGTGTAATCTTCCAGATGCCCCCTTTTCCTTTCACAAAGATTGGCTCTGATGGTTTTTATGTATAAATATATATATATAATAAAATATAATACATTTTTATACAGCAGACGTAAAAATTCAAATTATTTTAAAAGGCAAAATTTATATACATATGTGCTTTTTTTCTATATCTCACCTTCCCAAAAGACACTGTGTAAGTCCATTTGTTGTATTTTCTTAAAGAGGGAGACAAATTATTTGCAAAATGTGCTAAAGTCAATGATTTTTACGGGATTATTGACTTCTGCTTATGGAAAACAAAGAAACAGACACAATGCACACAGAAAATATTAGATATGGAGAGATTATTCAAAGTGAAGGGGACACATCATATTTCTGCATTTTACTTGCATTAAAAGAAACCTCTTTATATACTACAGTTGTTCCTATCTCTCCCCCGCCCCCCACCGCCCCACCACACACATATTTTTAAAGTTTTTCCTTTTTTAAGAATATTTTTGTAAGACCAATACCTGGGATGAGAAGAATCCTGAGACTGCCTGGAGGTGAGGTAGAAAATTAGAAATACTTCCTAATTCTTCTCAAGGCTGTTGGTAACTTTATTTCAGATAATTGGAGAGTAAAATGTTAAAACCTGTTGAGAGGAATTGATGGTTTCTGAGAAATACTAGGTACATTCATCCTCACAGATTGCAAAGGTGATTTGGGTGGGGGTTTAGTAATTTTCTGCTTAAAAAATGAGTATCTTGTAACCATTACCTATATGCTAAATATTCTTGAACAATTAGTAGATCCAGAAAGAAAAAAAAATATGCTTTCTCTGTGTGTGTACCTGTTGTATGTCCTAAACTTATTAGAAAATTTTATATACTTTTTTACATGTTGGGGGGCAGAAGGTAAAGCCATGTTTTGACTTGGTGAAAATGGGATTGTCAAACAGCCCATTAAGTTCCCTGGTATTTCACCTTCCTGTCCATCTGTCCCCTCCCTCCGGTATACCTTTATCCCTTTGAAAGGGTGCTTGTACAATTTGATATATTTTATTGAAGAGTTATCTCTTATTCTGAATTAAATTAAGCATTTGTTTTATTGCAGTAAAGTTTGTCCAAACTCACAATTATTTTAAGAGGTGTTCTCTGTTCTTAGCTGGGCTTAGCTCGAAAGTGCTACCCACATGAGGGGGAAGCTGGTCTTTTTTAATATTTTAATGTAAGTCAACCAAGAGTTGTGGCCAGATTCAGCCATGTTGGGGTGATTGGTGGTGGTGGGGAGTGAACTGAAACTACTGAAATACTTTGAAATGTTTCCTCTGGCAGCTTGTTACTTATGGAAAAGAGGTGGAATTGCTGCGAGGAGTTTTTCAGAAAAAGTACAGTGAAAGATAAGCTTTAAATAAGTGGTGAGGCGGAGATCGGCCAGCATCTAAATCATTTGTACATGATCAAGGGAAAATCTTGAACTTGAAATCTCCCAGCTACCAACACATCAAACTTAAAACTGAGGAAAAGGGTCCTTATAGCTGTTTGCAAGTGGACATGGTAACGAGGCGCATTCGCTGGGCT
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GCCTTATATAATCGCATCCTTCCTCTGGCTGGTTTAAAATTAGGTGGGGGTGGAGGGATGGGGAGTGTTGCATTGGGAGGAAGCCTCATAGCTTCATGGTTTTGATACACATGTGCGATCCCGGTCACCTGGATTTCATAATTCAAATGTAACCCGAAGGACCAGCTGGAATTACCCTGCCCAGGCGCACAGTGCTTCAAAACCCCACGTAGAGCCAGGAGCAAGAGTATATACACGCTAGGAACTTGGTATCTGAGCTGAGACACCTGAGTCCTCCTGAGGGCCCGGCCTAGTTTAGAAAGGGCGAGAATTTTGCAGGTCTCTTGAGAGTCTCTGACAGTGTTGTTAATTTGTAAATTAAGAAGCTGGCTCCCCGGCTGTCTAGTAACTTAGGGATTAGCAAATGCAAAAGTATAGACTTTTATGGTAGTTTCTTATCCTTCCCTTTCCCAGATTTCTGTTCTTTGGTTGGTTACAAAGCCTCTTATCTCTTTTTGATTCAGTAAAGTGATGGGTAATAATGCGACACTGGAACAAATCCATCTCTTGTTGGAAATGGAAGCTGGGTTGGGACTTGTGCTGTGTCACCCTCAAGTATGAAGTGTAAACTCTTTCTTGGGCCACCAAAGTAACTAAACAAGAAATGCAACATTCTCCCATGAATACATTAGAGTTAATACTGTGGCCACATTTGGAAAATTAGCATAGCTCGTAAAAGCCAAATGCAGAAAATTAATTGTTAAGTATTCTATCACCACAGCTCTATCCTCCTCCGCCCACCCACCCTTGAGGAAGACAAGCCCAAAGTTAGTTGATGCTATGGAATCACAAGGATGTCCCAGTCCGTGATTTGCTGTAATTGAATCCATTTTAAATGTGGAGTCTGGATGCTGTTGGCATACCTTTATTTTGCTTGTTTTTCCCCCTGACAAACAAATCATTTACACATTTGCCCGAAGCCATAGAATGGGTAGAGGGGATGACTAAGATGTCATCACGTGCTCTCAATTTGGAGGCAGCATGATTTCCCCTGACATTTACATTTATGGGCTAGCTAATTTTTCCCTTCGTCTTAGTAAAGTTTATATTACAGAAGCGCCCAGCCAAGAACCTTATCCCACATCCAGATCTGTAAAATGATGTTCAGATTTTATAATCTGTGGACTGGATGCAATGACAGCTTGTGACTGTTTATTGCGTGGGACTGCCCCCAAATTCAAAGATGCTATTAATTTACCACAGACCTTATCTGCACGATTATCCTTCATAAATATGCTGACGCAATCCACTTTTTCTGGTTCAGAGAGGAGACCAAGGGAAACAGCTAACCCGGTTGCTAAAACCTTTTTCATTTTCCTTCCCATATGTGATTGTCTCCATGTCCAAGGGAGGCTGGGCTAATCATGAACCTGGTCTCCCATTTTTAAAGAGAAGATAAATTATGCTCAGAAGAGATAGCGGTTCATTTCTCACCGACCACTTGATTCCCTTGTCTTACATTAAATGTTCTATTTCTGTTATCTCTAATGCTGTTTGTTTTCCATATAGAAGGTTCAGTTACACCATTACATTTCCAAAACTTTTCTTAAAAAACTCATTTTTAAAAAACGAAGCAACTTACCCATTTATATATGGTCCCCCTCCCCCCAAGAAACACACATAGTTTTGACAAAGGTACCTTTTTCAAAGATGAAACAAAGTATGTCTTTCCATACATAGATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTATGTATATATAGATTTTTTTAAAGCTAAGTGCTTTCAGTTGAGAGGGGAGGCCCGAAAGGAAAAAACCTAGAGAGATGACGGGGGAGATGGGTTTTTTTTAGTATTATTTTAATGTAACTTTCTTTTGCTAATCCGCTCCTCTCTCTGTTCTCTAGGACATATGAGCCCTACCACCTGCACCCTGAGGAAACACAAGACCAATCGGAAGCCGCGCACGCCCTTTACCACATCCCAGCTCCTCGCCCTGGAGCGCAAGTTCCGTCAGAAACAGTACCTCTCCATTGCAGAGCATGCAGAGTTCTCCAGCTCTCTGAACCTCACAGAGACCCAGGTCAAAATCTGGTTCCAGAACCGAAGGGCCAAGGCGAAAAGACTGCAGGAGGCAGAACTGGAAAAGCTGAAAATGGCTGCAAAACCTATGCTGCCCTCCAGCTTCAGTCTCCCTTTCCCCATCAGCTCGCCCCTGCAGGCAGCGTCCATATATGGAGCATCCTACCCGTTCCATAGACCTGTGCTTCCCATCCCGCCTGTGGGACTCTATGCCACGCCAGTGGGATATGGCATGTACCACCTGTCCTAAGGAAGACCAGATCAATAGACTCCATGATGGATGCTTGTTTCAAAGGGTTTCCTCTCCCTCTCCACGAAGGCAGTACCAGCCAGTACTCCTGCTCTGCTAACCCTGCGTGCACCACCCTAAGCGGCTAGGCTGACAGGGCCACACGACATAGCTGAAATTTGTTCTGTAGGCGGAGGCACCAAGCCCTGTTTTCTTGGTGTAATCTTCCAGATGCCCCCTTTTCCTTTCACAAAGATTGGCTCTGATGGTTTTTATGTATAAATATATATATATAATAAAATATAATACATTTTTATACAGCAGACGTAAAAATTCAAATTATTTTAAAAGGCAAAATTTATATACATATGTGCTTTTTTTCTATATCTCACCTTCCCAAAAGACACTGTGTAAGTCCATTTGTTGTATTTTCTTAAAGAGGGAGACAAATTATTTGCAAAATGTGCTAAAGTCAATGATTTTTACGGGATTATTGACTTCTGCTTATGGAAAACAAAGAAACAGACACAATGCACACAGAAAATATTAGATATGGAGAGATTATTCAAAGTGAAGGGGACACATCATATTTCTGCATTTTACTTGCATTAAAAGAAACCTCTTTATATACTACAGTTGTTCCTATCTCTCCCCCGCCCCCCACCGCCCCACCACACACATATTTTTAAAGTTTTTCCTTTTTTAAGAATATTTTTGTAAGACCAATACCTGGGATGAGAAGAATCCTGAGACTGCCTGGAGGTGAGGTAGAAAATTAGAAATACTTCCTAATTCTTCTCAAGGCTGTTGGTAACTTTATTTCAGATAATTGGAGAGTAAAATGTTAAAACCTGTTGAGAGGAATTGATGGTTTCTGAGAAATACTAGGTACATTCATCCTCACAGATTGCAAAGGTGATTTGGGTGGGGGTTTAGTAATTTTCTGCTTAAAAAATGAGTATCTTGTAACCATTACCTATATGCTAAATATTCTTGAACAATTAGTAGATCCAGAAAGAAAAAAAAATATGCTTTCTCTGTGTGTGTACCTGTTGTATGTCCTAAACTTATTAGAAAATTTTATATACTTTTTTACATGTTGGGGGGCAGAAGGTAAAGCCATGTTTTGACTTGGTGAAAATGGGATTGTCAAACAGCCCATTAAGTTCCCTGGTATTTCACCTTCCTGTCCATCTGTCCCCTCCCTCCGGTATACCTTTATCCCTTTGAAAGGGTGCTTGTACAATTTGATATATTTTATTGAAGAGTTATCTCTTATTCTGAATTAAATTAAGCATTTGTTTTATTGCAGTAAAGTTTGTCCAAACTCACAATTATTTTAAGAGGTGTTCTCTGTTCTTAGCTGGGCTTAGCTCGAAAGTGCTACCCACATGAGGGGGAAGCTGGTCTTTTTTAATATTTTAATGTAAGTCAACCAAGAGTTGTGGCCAGATTCAGCCATGTTGGGGTGATTGGTGGTGGTGGGGAGTGAACTGAAACTACTGAAATACTTTGAAATGTTTCCTCTGGCAGCTTGTTACTTATGGAAAAGAGGTGGAATTGCTGCGAGGAGTTTTTCAGAAAAAGTACAGTGAAAGATAAGCTTTAAATAAGTGGTGAGGCGGAGATCGGCCAGCATCTAAATCATTTGTACATGATCAAGGGAAAATCTTGAACTTGAAATCTCCCAGCTACCAACACATCAAACTTAAAACTGAGGAAAAGGGTCCTTATAGCTGTTTGCAAGTGGACATGGTAACGAGGCGCATTCGCTGGGCT
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Task1_train_9837
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With a mutation on Chromosome 5 in gene SNCB (synuclein beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Lewy body dementia
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CTAGAGTCAAACATCTAGGACAGTGCCTGCTCATGAAAGAGATCAATGAATGGAAGTGATTATTGGTAACATGATTATAAGAAATGGGAAGTCATGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTAGCGGGTGCCTGTAATTCCAGCAACTTGGGAGGCTGAGGCAGGAGAATTGCTAGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAACAAAAAAAAACAAATGGGAAGTCATACAGATAGTAAAATGCAGAGACAGGGCTTGAACTAGAACTTCTGAGTCAAGATCCTGACTTCCAACAGTGGAAGGAACCAACTGTGCAAAATGACAGGAGTGGAGGGCAGCGTGGGGTCTCCCACAGCCTGGTGGATGCACTCATGCTGAACGTACACTGATCACCCAAACCAGACGCTGCAGAAGGAGCCCCCATCCCCATGGAGGCAGGGTCTGCACGCGTCCATGGACAGACACAGAGCATTCACAGCGAATGCCTGCACACACATGTCATGGGGGATCCACTTCCAGGCACGCCTGTGGTCACAGGATCCCCTGCAGGCAGACCCAGACTGCTTGAGTGATCATGTGGCCACAATCTCTTGCAGGGCATTCACTGTATGCAAACCCAGCTCTTTATATCCATGGTTCTCATAGTATGCTCCCTGGAACTGCGGCATCAACCTCACCCGGGTACTTGTTAGAAATGCAAATCCTCCAGCCCCACCTCAGACCTACTGAATCAGAAATTCTAACGATGGGGCCAAAAATCTGTATTTTAACCTGGCCTCTTGGTGATTGATACACACTCAAGCTTTGAGAATATCTATATTATCTCCAATCTGCATGAGATTCCTATTGTGTTCACTCGCATTTTACAAGTGAACTATCAAGTTCAGAGACATGGTGGGAACTGCCCAGGGTCACACAGCCAGGAAGTAGTGGAGTTAGGATTCAAACCCAGCTGAGGCTGGGGGTAGGTGGGTTCAGAGCTCACAACTCTTAACCCCCTCTTATCAGGGGGTCCTAGTAGGGGGATCTGTCTCCATGCACACATGAGTGGTTCCCAGGGCTCCCCTGGGGAAACACAACTGCACAGATCACACCCACCCCAGCACAGCTCCCACCTGCTCCAACCTGCCTCAGGGCCTTGGTACTTGCTGTTCCTACAGCCTGAAATTCGCTTCCCACACATCTCAAGGCTGCCTCTCTCATCCCTTGGGTGTCAGCTCAAATGGTTCTTCCTCAGAGAAGTCTTCCCAGCCAAAATAGCCCTCTCACCCCTTGCCTGTCTGTCCCATCGCCCTCTCTGTCTTTTCTCTGTAGCACTTATCCCCGCGGAAAGCATCCTGCCTGCTGGCTTGCGTTTTACTATCTTCTCCCACTACAATGTCAGCTGCAGGAACGTAGGAACCTATTCACTGCGGCAGCCTCTACAACAATTCCTCTCTGGCATGGATATTTGTTGAATGAAAAGAAATGAATGAACAATCATTGACACATGCAGACGTGGCCAGAAGTCATCTGGGTCACGCTGGCAAGCAGGATACACGCAGACAGCCAGGTCTGGGTCCCCATCACCGGGAGCGTCACACCCATGCACGCCTTTATTCAGATGCATTCTGAGCTGAGTCTAGCACGGGCCTGCAGGATGGGAGGCAAAGTGGCTTGTGTTCCAAGCTGGTGGCAGGATTAGGGGGGCGGGGATGGTGACAGGTTTATTTGTGTGCCTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGCCTGCATGTGCGGGTCAGAAGGATCGCTTACCTTCAGATCAGTAGGGAATTCCTCCCTCTTCACCAGTCCTGTGGCTGCTGCGATGTTCCCTGCCCCAGAGAACACAGCTCCTCCCAGATGTGAGGCCTGTTCCTTGGTTTTTTCAGCCACTGGAGCAGGGAGGGGGTTGAGGAAGGGGTTTGGGAGCCAGGGGGAAACACCGATGCCCTGCCTTGTAGTATCCCAGGGCCTGCCCTCCCCACGGAGCATTCCCGCAGAAGCCTTGGGAGTCTCCCCCGCCCCCGCCCTCTGGTTCCCGGCCAGATCATCCGCCTAAGTGAGAGAAGGGCTGGTGCCAGGGCTGGGCTAGTACCTGAAGCCACACCTTGTACCACACCTTCTCGGGTCTTGCTTCCTGCAGGGAGAAAAAGCGGCACATTTAAGGACTCTGCGCTGAGGGAACAGAAACTCCAGCACAGCATGGTGATTACAGAGTGGGCATCCTGGCCCCGTCACTGCCTCCTTGGGTCCCCACATCCTACAACCTGCACCCCCATGTTAACCCCCGTCTTATCACTGCACTGGGCCCCACACCTCTGTCTGCAAGGGTTGCAGTTCTCTCCCACCTGATGCGATACCCCACCCCTCTAGTGGATGTTGGCTGAGGGCCAGTGCTGTGTCAAGTCCTCTGCCTGCCCCGCTGCACTTCACTTTTCCCCAGCCCTGGGAGGCGGGTGCTGTTATTGTCCCCGTTTCACGGATGGAAGCTCAGTGTGGGTTCCACCACTAGGAAGTGGCTGAACTGACATTCAAGTTCAGGCCTTTCTGACCCTAAAACTTTAGCTACCAACCACTCTCACAGCACGTAGCCCAGGATAGGAGGCAGGTGGGGGTGGGAGTAGGGGTGGAGCTGGGAGGCCACAAAGCCATGTATTTTGAAAGGTTCCCCTCGTGCCCCATGCACCACTGCCCATAGCCCACTGCCCCACTCCATTTCCTCTAAAGATTCTCTTCTCCTAGCGAGGGTGCAAACCCCTTCTTCTGGCCAAAGTAGGGGGTGTCAGGCTCAGGGTGGGTCTAAAGGTGATGTGCAGATTGTAACTGGCACCCGTGGCATTGGCTGGGCCTTCCTCGGAGGGTAGCAACTTGATAACTTCAAAATGTCTGGGGGCCGCTGGGAAGGCCAGAGGGCCTGATCTGGGCTGGAGGATGAGAGACGGAAACGGGGTGGGGAGTATCCCGTCTGACAATTTGGCAACACAGACAACAGTGATGGAGCCAGAACTGGGTGTCTAGGCAGACTGAGCCCGGCGGGGGGGTGGGGGAAGAGGCTGGTGTGGGAAGACAGGGTTCTCAGGGCGAAGGCCAACCAGCACCCAGAGACAGGAGGGGCAGGCTGCATGCTCCCCTTTCACTCCTCCCACAAAACATCAGCTTCCACCTACTCTGTGCCAGGCCCTGGGCCAATCGCTCACTGTCTGAAGTGGGTAAGAGAAGAACAGATTCAGTTCCTGGACCTCAAGTAGTGGGGAGAGGACTTCCAGCCTCCAAGGACTGACTATGTGAGGAGGGAAGGGACACTGCCTAGGCCTTGAGAAATGGGGAACAGATGGACATCAGAAAGGAGACTGCAGAGGGTATCCCAGGCCCAGGGACCCACACAGACAAGGCAGAGCAATGTGCTTTCAGGACAGTCCATGTGCCAGGAGCCATGGGTGTGGTGGGAAATGTAGACTGAGGCAGGACCATGAAGGGCACTGAATGCCAGGGTACAGGGAGCCGAGGCTTTAACTTGTAGGAACTGGGGTCCATCAGGGGCTCCCAGGCAGAGGCAGGAGCAGGAAGTGCCAATCTAAGGGGAAGAGCAGCATGGCTTGGAGGGGCCAAGTCTATTATCAGAGAGAGAGTGTCAGAGAGCCAGAGGCCAGCAGGAATGAAAGACCCTGGGGAGGAGGCAGGAGGGAGGCCAGAGCTGGGATCAAGCAGCCATGCACTTTAGCCTTCTCCCGGTCTCCATTGCCACCACCCTCGCCCCTGCCACCCTCATCCTGTGGCCTCATCAGGCCTCCCTGCAGTTTTTCTGTCCCCAGAGGCCCAAGTGACCGTTCTAAACTAATCACATCATGGCAGTCCCTTGCTTACAGTCTCTCGTGGCCATGATAACAACGTTTTG
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CTAGAGTCAAACATCTAGGACAGTGCCTGCTCATGAAAGAGATCAATGAATGGAAGTGATTATTGGTAACATGATTATAAGAAATGGGAAGTCATGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTAGCGGGTGCCTGTAATTCCAGCAACTTGGGAGGCTGAGGCAGGAGAATTGCTAGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAACAAAAAAAAACAAATGGGAAGTCATACAGATAGTAAAATGCAGAGACAGGGCTTGAACTAGAACTTCTGAGTCAAGATCCTGACTTCCAACAGTGGAAGGAACCAACTGTGCAAAATGACAGGAGTGGAGGGCAGCGTGGGGTCTCCCACAGCCTGGTGGATGCACTCATGCTGAACGTACACTGATCACCCAAACCAGACGCTGCAGAAGGAGCCCCCATCCCCATGGAGGCAGGGTCTGCACGCGTCCATGGACAGACACAGAGCATTCACAGCGAATGCCTGCACACACATGTCATGGGGGATCCACTTCCAGGCACGCCTGTGGTCACAGGATCCCCTGCAGGCAGACCCAGACTGCTTGAGTGATCATGTGGCCACAATCTCTTGCAGGGCATTCACTGTATGCAAACCCAGCTCTTTATATCCATGGTTCTCATAGTATGCTCCCTGGAACTGCGGCATCAACCTCACCCGGGTACTTGTTAGAAATGCAAATCCTCCAGCCCCACCTCAGACCTACTGAATCAGAAATTCTAACGATGGGGCCAAAAATCTGTATTTTAACCTGGCCTCTTGGTGATTGATACACACTCAAGCTTTGAGAATATCTATATTATCTCCAATCTGCATGAGATTCCTATTGTGTTCACTCGCATTTTACAAGTGAACTATCAAGTTCAGAGACATGGTGGGAACTGCCCAGGGTCACACAGCCAGGAAGTAGTGGAGTTAGGATTCAAACCCAGCTGAGGCTGGGGGTAGGTGGGTTCAGAGCTCACAACTCTTAACCCCCTCTTATCAGGGGGTCCTAGTAGGGGGATCTGTCTCCATGCACACATGAGTGGTTCCCAGGGCTCCCCTGGGGAAACACAACTGCACAGATCACACCCACCCCAGCACAGCTCCCACCTGCTCCAACCTGCCTCAGGGCCTTGGTACTTGCTGTTCCTACAGCCTGAAATTCGCTTCCCACACATCTCAAGGCTGCCTCTCTCATCCCTTGGGTGTCAGCTCAAATGGTTCTTCCTCAGAGAAGTCTTCCCAGCCAAAATAGCCCTCTCACCCCTTGCCTGTCTGTCCCATCGCCCTCTCTGTCTTTTCTCTGTAGCACTTATCCCCGCGGAAAGCATCCTGCCTGCTGGCTTGCGTTTTACTATCTTCTCCCACTACAATGTCAGCTGCAGGAACGTAGGAACCTATTCACTGCGGCAGCCTCTACAACAATTCCTCTCTGGCATGGATATTTGTTGAATGAAAAGAAATGAATGAACAATCATTGACACATGCAGACGTGGCCAGAAGTCATCTGGGTCACGCTGGCAAGCAGGATACACGCAGACAGCCAGGTCTGGGTCCCCATCACCGGGAGCGTCACACCCATGCACGCCTTTATTCAGATGCATTCTGAGCTGAGTCTAGCACGGGCCTGCAGGATGGGAGGCAAAGTGGCTTGTGTTCCAAGCTGGTGGCAGGATTAGGGGGGCGGGGATGGTGACAGGTTTATTTGTGTGCCTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGCCTGCATGTGCGGGTCAGAAGGATCGCTTACCTTCAGATCAGTAGGGAATTCCTCCCTCTTCACCAGTCCTGTGGCTGCTGCGATGTTCCCTGCCCCAGAGAACATAGCTCCTCCCAGATGTGAGGCCTGTTCCTTGGTTTTTTCAGCCACTGGAGCAGGGAGGGGGTTGAGGAAGGGGTTTGGGAGCCAGGGGGAAACACCGATGCCCTGCCTTGTAGTATCCCAGGGCCTGCCCTCCCCACGGAGCATTCCCGCAGAAGCCTTGGGAGTCTCCCCCGCCCCCGCCCTCTGGTTCCCGGCCAGATCATCCGCCTAAGTGAGAGAAGGGCTGGTGCCAGGGCTGGGCTAGTACCTGAAGCCACACCTTGTACCACACCTTCTCGGGTCTTGCTTCCTGCAGGGAGAAAAAGCGGCACATTTAAGGACTCTGCGCTGAGGGAACAGAAACTCCAGCACAGCATGGTGATTACAGAGTGGGCATCCTGGCCCCGTCACTGCCTCCTTGGGTCCCCACATCCTACAACCTGCACCCCCATGTTAACCCCCGTCTTATCACTGCACTGGGCCCCACACCTCTGTCTGCAAGGGTTGCAGTTCTCTCCCACCTGATGCGATACCCCACCCCTCTAGTGGATGTTGGCTGAGGGCCAGTGCTGTGTCAAGTCCTCTGCCTGCCCCGCTGCACTTCACTTTTCCCCAGCCCTGGGAGGCGGGTGCTGTTATTGTCCCCGTTTCACGGATGGAAGCTCAGTGTGGGTTCCACCACTAGGAAGTGGCTGAACTGACATTCAAGTTCAGGCCTTTCTGACCCTAAAACTTTAGCTACCAACCACTCTCACAGCACGTAGCCCAGGATAGGAGGCAGGTGGGGGTGGGAGTAGGGGTGGAGCTGGGAGGCCACAAAGCCATGTATTTTGAAAGGTTCCCCTCGTGCCCCATGCACCACTGCCCATAGCCCACTGCCCCACTCCATTTCCTCTAAAGATTCTCTTCTCCTAGCGAGGGTGCAAACCCCTTCTTCTGGCCAAAGTAGGGGGTGTCAGGCTCAGGGTGGGTCTAAAGGTGATGTGCAGATTGTAACTGGCACCCGTGGCATTGGCTGGGCCTTCCTCGGAGGGTAGCAACTTGATAACTTCAAAATGTCTGGGGGCCGCTGGGAAGGCCAGAGGGCCTGATCTGGGCTGGAGGATGAGAGACGGAAACGGGGTGGGGAGTATCCCGTCTGACAATTTGGCAACACAGACAACAGTGATGGAGCCAGAACTGGGTGTCTAGGCAGACTGAGCCCGGCGGGGGGGTGGGGGAAGAGGCTGGTGTGGGAAGACAGGGTTCTCAGGGCGAAGGCCAACCAGCACCCAGAGACAGGAGGGGCAGGCTGCATGCTCCCCTTTCACTCCTCCCACAAAACATCAGCTTCCACCTACTCTGTGCCAGGCCCTGGGCCAATCGCTCACTGTCTGAAGTGGGTAAGAGAAGAACAGATTCAGTTCCTGGACCTCAAGTAGTGGGGAGAGGACTTCCAGCCTCCAAGGACTGACTATGTGAGGAGGGAAGGGACACTGCCTAGGCCTTGAGAAATGGGGAACAGATGGACATCAGAAAGGAGACTGCAGAGGGTATCCCAGGCCCAGGGACCCACACAGACAAGGCAGAGCAATGTGCTTTCAGGACAGTCCATGTGCCAGGAGCCATGGGTGTGGTGGGAAATGTAGACTGAGGCAGGACCATGAAGGGCACTGAATGCCAGGGTACAGGGAGCCGAGGCTTTAACTTGTAGGAACTGGGGTCCATCAGGGGCTCCCAGGCAGAGGCAGGAGCAGGAAGTGCCAATCTAAGGGGAAGAGCAGCATGGCTTGGAGGGGCCAAGTCTATTATCAGAGAGAGAGTGTCAGAGAGCCAGAGGCCAGCAGGAATGAAAGACCCTGGGGAGGAGGCAGGAGGGAGGCCAGAGCTGGGATCAAGCAGCCATGCACTTTAGCCTTCTCCCGGTCTCCATTGCCACCACCCTCGCCCCTGCCACCCTCATCCTGTGGCCTCATCAGGCCTCCCTGCAGTTTTTCTGTCCCCAGAGGCCCAAGTGACCGTTCTAAACTAATCACATCATGGCAGTCCCTTGCTTACAGTCTCTCGTGGCCATGATAACAACGTTTTG
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Task1_train_9838
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A change on Chromosome 5 affects gene NSD1 (nuclear receptor binding SET domain protein 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; not provided
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AAAAAAAAAAAAAAGTTGTTCAAGTACTTCATTTGTCTCCTCCCACTTATAATTGAGTGGTTTTTTTTAAGAAATAAGTGTTTATTTTTGCAGTTGTCATGCCTTTTGTACTGTAATCATTTATATATGACTTATCTGTCAGACAGTGAGTTCTTTTTTCTCCTCACGTTGCTGGCACATCAGAAGTTCTTGATCTGTTAATGAAATTTATTTATTTATTTATTTCTAAGACAGGGGCTTGCTGTACTGCCAGGGTGGAGTGCAGTGGCGTGATAATGGCTCACTGTATTCTTGACCTTTGAGGATGAAGTGATCCTCCCTTCTCAGCCTCCCAAATAGATGGGACTACAGGCACATGCCACCATCCTCAGCCAGTATTTTTATTTTTAGTAGAGATAGGGTCTTGCTATGTTTCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCTCCCACTTCTGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCCCCTACACCTGGCCAGTTCAATGTATTGACTCATGGGAGAGTGATTTAATTCTCAAATTGACTTTAAGAACCTCTGTATAGGTACACACATGTGTATATTAACCAGTTCCAGTTCCTGTAGGTGATTTTTATTGAAGGATTTAATTCAGTAGGTGGGAAATAAGGAGTTCATTTTTTTTTTCAGTTTGTTTTTAAAATGAACCAGACAACACAAAATTTAACTAAGTTTTAGTTTCATTATTAAGCTATGTTTTTTAATAGAAAAACTACCATGTGTACACTTTTGAAACCAGCATTTACAGAGAAGTTACCGTTGACAGTTCAGTTTATAAATCCCTTCTCTCCTTTGTCTTTCTTTTTTCATTTTTCATTTTGCATTCTGAGGGAAGTAGGCATTCCATAATTCTTCCAAAGGTTATTTGGATTCTTTTCTGTGTTTTGAAATAAGACATGGTTGTTACAAGGGAACTAGATGTGAGTTAAAATGAATTTTCGTATAAAATGATTTTTATTTCCTTTTATTAAAAGTGACAAATTGTTAAACATGTGTTGTCCTGACTTTCTTTTGTGACACTTTTTAGTGTAATAAAAGTTGCTAATAAAATTGTAAATGTGTGGAAGATAACATATACTAGATGAATTATAATCTTTTCTAGATGGGATTTGTATTTTCATATTTTTAATTGTATGTATAGAACTTTAGATAACCAAGAAATTATAGGCTAAACTGGATTTATTTTTGGTTTTATTACTGGTAGGCTTTCCTTTTTCTTTTAAAATTTCCCTAATTTGAAATATTGCATTTCACTTTCTTTGCAAAACCAGTGTTTGACCATGCGCTTGTTCTCTCTGAAGTTATTGAACTTACTATATCTAAAATACCAAAACCATACATTATTTTGGGGGTGTGGTTGTGGGGAGGAATCCATGCAAAGCACCTTGTGTGGTGCTCGTCTATGAGTAGCTACACTATAAATGTTAACAGATCATACATGTTGCTTTGCTGAAACATTTCTTCTTCTTTATATTAGCCTAGTGTTTTTCACGTTTTCTTGGGTTTTTTTTTGTATATATATTTTTGTTGCTGTGGGCTTACTATATACATCTTCTGTATTTTTGGAACAATGAAATTATAGACTGATAGTGAAGGAAACTTACCTGTCTACTATCTTAATTTCTTCTTTGTAGTTAATCTACATTTAGCTGGTTTTGAAGCTATACCACGTCATCAGACTAGACTACTGATTCTTTCATAACCTCCTGTGTATTTTCTTGCCACACATATATAATACTTAAAATTTTCCTTGTGTATGATCTATTCTAGGTTGTCTAGTTCAGTGGGCATGTTAGTTGTTTCCAGACAGTCTTCTTTGGCGGCAATGATGTGGCTGTTCTCTTAATGATGAGAAGTAATTTCTTTGATCTAATGATTCTGGTTCTCTTACCCTTACCTAGTTTCCAACCGGAGGCCCTATCGGCAGTACTACGTGGAGGCTTTTGGAGATCCTTCTGAGAGAGCCTGGGTGGCTGGAAAAGCAATCGTCATGTTTGAAGGCAGACATCAATTCGAAGAGCTACCTGTCCTTAGGAGAAGAGGGAAACAGAAAGAAAAAGGATATAGGCATAAGGTAGGAAACGAAAAAGGCTTTTTATTGAGTGACAGAAGCAAGTAAGAAAAAGAAAGAAAATGGCCTCTTATTTATTTTCGAGACAGAACTTTGCTCTGTTTCCCAGATTGGAGTACAGTGGTGCAATCTTTGTTCACTGCAACCTCCGCGTCCCAGGTTCAAGTGATTCTCGTGCTTCAGCCTCTTGAGTAGCTGGTATTATAAGCGAGCACCACCACGCCTGGCTAACTTTTGTATTTAGTAGAGACAGGATTTCGCCATGTTGGCCAGGTTGGTCTTGAACTCCTGAGCTCAAGCAGCTTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCGGCCTTTTAAAAATCATTATCTACTTGGGAGTTAGCAGAGAGGAGGCAGGGAAGAAGCATTATATTTTTGAAATGTAAGTTATTTCCTTTGGTAGTAGAATATCTGTGAGAAAAGAGCTAGGGAGCAGATGCAGGTGGGTTTTTTTTGTTTGTTTGTTTGTTTGTTTTTCCTCCCCAGTGGGCTGGGGCTAGCTTGTGACATATTTATACTAAATTTTTTGATAAATTATTTTAGTCAACTTTACTGTGTCACTCAGTAGTGAAAATTATGACATAGCGTGACCATTCTTTTGTTATCTTTTATGCATGATGAAAGTATCATTAAAATGAAATATTCTGCTTCTTGCCACTTGGACTAATTATTTCTGTTAATGAGAATAATGTGGTTTTTTTGTTTGTTTGTTTCTTTGTTTTTGGAGACAGAGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCACACTCTTGGCTCACTGCAACTTCCGCCTCCCAGGTTTGAGCCATTCTTGTGCCTTAGCCTCCCAAGTAGCTGGGATTATAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGATGTCAGGTGATCAACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCACTGAGAACCATAAAGTTTTTAATAATTTTCTTTTTTATGTTTGTCAGTGCTTAAGTCTAAAGTTTCTACTCTAGTTATATTTCAACCATCAGTATTGTGGCTTTTTTTCTTTTGCTTGATGTTTTATGTTAAATTTGGCTGAGAAAAATACCAGCTTATTTTAATACTCTTTTTTCCTCCAGTTTTTTTTATTGTGTTAAAATATATATAATATAAAAATTACTATCTTAAACACTTTTAAGTGTACAGTTAATGGTTTTAAATACATTTATAATGGTGTGCAAACATCTCATAATTATTTTCATCTTGCAAATCTGATACTCTTTTACCTGTTAAACAGTAATTCCCCATTTGTCCTTCTCCCATCACTGTCACCACCATTCTACTGTTTGTCTCTATGATTTAATATTCTCTTATATTCAATTCTAGAAGGAGAAATAATAATTCTTAGTTTGGTGTTTTATACTCCCCTGGGTCTAAATACTTTTATTTATTATTATTATTCTTTGATACGGGGGTCTCTCTATGTTGTTCATGCTAGAGTGCTGTTGCACAGTCATCTTTTACTGCAGCTATGACCTCCCAGGCTCGAGCCATTCTCCTGACTCAGTCTCCCGAGTAGCTGGGACTACAGATATGTATGACTACAGTGGCTAATTTTTATTTATTATTATTATTATTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGGCCGGAGTACAATGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTCATGCCTTAGCCTCCCAAATAGTTGGGATTACAAGTGTATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAAGTGATCCATCTGCCTTGGTTTCCCAAAGTGC
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AAAAAAAAAAAAAAGTTGTTCAAGTACTTCATTTGTCTCCTCCCACTTATAATTGAGTGGTTTTTTTTAAGAAATAAGTGTTTATTTTTGCAGTTGTCATGCCTTTTGTACTGTAATCATTTATATATGACTTATCTGTCAGACAGTGAGTTCTTTTTTCTCCTCACGTTGCTGGCACATCAGAAGTTCTTGATCTGTTAATGAAATTTATTTATTTATTTATTTCTAAGACAGGGGCTTGCTGTACTGCCAGGGTGGAGTGCAGTGGCGTGATAATGGCTCACTGTATTCTTGACCTTTGAGGATGAAGTGATCCTCCCTTCTCAGCCTCCCAAATAGATGGGACTACAGGCACATGCCACCATCCTCAGCCAGTATTTTTATTTTTAGTAGAGATAGGGTCTTGCTATGTTTCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAGTCCTCCCACTTCTGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCCCCTACACCTGGCCAGTTCAATGTATTGACTCATGGGAGAGTGATTTAATTCTCAAATTGACTTTAAGAACCTCTGTATAGGTACACACATGTGTATATTAACCAGTTCCAGTTCCTGTAGGTGATTTTTATTGAAGGATTTAATTCAGTAGGTGGGAAATAAGGAGTTCATTTTTTTTTTCAGTTTGTTTTTAAAATGAACCAGACAACACAAAATTTAACTAAGTTTTAGTTTCATTATTAAGCTATGTTTTTTAATAGAAAAACTACCATGTGTACACTTTTGAAACCAGCATTTACAGAGAAGTTACCGTTGACAGTTCAGTTTATAAATCCCTTCTCTCCTTTGTCTTTCTTTTTTCATTTTTCATTTTGCATTCTGAGGGAAGTAGGCATTCCATAATTCTTCCAAAGGTTATTTGGATTCTTTTCTGTGTTTTGAAATAAGACATGGTTGTTACAAGGGAACTAGATGTGAGTTAAAATGAATTTTCGTATAAAATGATTTTTATTTCCTTTTATTAAAAGTGACAAATTGTTAAACATGTGTTGTCCTGACTTTCTTTTGTGACACTTTTTAGTGTAATAAAAGTTGCTAATAAAATTGTAAATGTGTGGAAGATAACATATACTAGATGAATTATAATCTTTTCTAGATGGGATTTGTATTTTCATATTTTTAATTGTATGTATAGAACTTTAGATAACCAAGAAATTATAGGCTAAACTGGATTTATTTTTGGTTTTATTACTGGTAGGCTTTCCTTTTTCTTTTAAAATTTCCCTAATTTGAAATATTGCATTTCACTTTCTTTGCAAAACCAGTGTTTGACCATGCGCTTGTTCTCTCTGAAGTTATTGAACTTACTATATCTAAAATACCAAAACCATACATTATTTTGGGGGTGTGGTTGTGGGGAGGAATCCATGCAAAGCACCTTGTGTGGTGCTCGTCTATGAGTAGCTACACTATAAATGTTAACAGATCATACATGTTGCTTTGCTGAAACATTTCTTCTTCTTTATATTAGCCTAGTGTTTTTCACGTTTTCTTGGGTTTTTTTTTGTATATATATTTTTGTTGCTGTGGGCTTACTATATACATCTTCTGTATTTTTGGAACAATGAAATTATAGACTGATAGTGAAGGAAACTTACCTGTCTACTATCTTAATTTCTTCTTTGTAGTTAATCTACATTTAGCTGGTTTTGAAGCTATACCACGTCATCAGACTAGACTACTGATTCTTTCATAACCTCCTGTGTATTTTCTTGCCACACATATATAATACTTAAAATTTTCCTTGTGTATGATCTATTCTAGGTTGTCTAGTTCAGTGGGCATGTTAGTTGTTTCCAGACAGTCTTCTTTGGCGGCAATGATGTGGCTGTTCTCTTAATGATGAGAAGTAATTTCTTTGATCTAATGATTCTGGTTCTCTTACCCTTACCTAGTTTCCAACCGGAGGCCCTATCGGCAGTACTACGTGGAGGCTTTTGGAGATCCTTCTGAGAGAGCCTGGGTGGCTGGAAAAGCAATCGTCATGTTTGAAGTCAGACATCAATTCGAAGAGCTACCTGTCCTTAGGAGAAGAGGGAAACAGAAAGAAAAAGGATATAGGCATAAGGTAGGAAACGAAAAAGGCTTTTTATTGAGTGACAGAAGCAAGTAAGAAAAAGAAAGAAAATGGCCTCTTATTTATTTTCGAGACAGAACTTTGCTCTGTTTCCCAGATTGGAGTACAGTGGTGCAATCTTTGTTCACTGCAACCTCCGCGTCCCAGGTTCAAGTGATTCTCGTGCTTCAGCCTCTTGAGTAGCTGGTATTATAAGCGAGCACCACCACGCCTGGCTAACTTTTGTATTTAGTAGAGACAGGATTTCGCCATGTTGGCCAGGTTGGTCTTGAACTCCTGAGCTCAAGCAGCTTCCCAAAATGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCGGCCTTTTAAAAATCATTATCTACTTGGGAGTTAGCAGAGAGGAGGCAGGGAAGAAGCATTATATTTTTGAAATGTAAGTTATTTCCTTTGGTAGTAGAATATCTGTGAGAAAAGAGCTAGGGAGCAGATGCAGGTGGGTTTTTTTTGTTTGTTTGTTTGTTTGTTTTTCCTCCCCAGTGGGCTGGGGCTAGCTTGTGACATATTTATACTAAATTTTTTGATAAATTATTTTAGTCAACTTTACTGTGTCACTCAGTAGTGAAAATTATGACATAGCGTGACCATTCTTTTGTTATCTTTTATGCATGATGAAAGTATCATTAAAATGAAATATTCTGCTTCTTGCCACTTGGACTAATTATTTCTGTTAATGAGAATAATGTGGTTTTTTTGTTTGTTTGTTTCTTTGTTTTTGGAGACAGAGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCACACTCTTGGCTCACTGCAACTTCCGCCTCCCAGGTTTGAGCCATTCTTGTGCCTTAGCCTCCCAAGTAGCTGGGATTATAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGATGTCAGGTGATCAACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCACTGAGAACCATAAAGTTTTTAATAATTTTCTTTTTTATGTTTGTCAGTGCTTAAGTCTAAAGTTTCTACTCTAGTTATATTTCAACCATCAGTATTGTGGCTTTTTTTCTTTTGCTTGATGTTTTATGTTAAATTTGGCTGAGAAAAATACCAGCTTATTTTAATACTCTTTTTTCCTCCAGTTTTTTTTATTGTGTTAAAATATATATAATATAAAAATTACTATCTTAAACACTTTTAAGTGTACAGTTAATGGTTTTAAATACATTTATAATGGTGTGCAAACATCTCATAATTATTTTCATCTTGCAAATCTGATACTCTTTTACCTGTTAAACAGTAATTCCCCATTTGTCCTTCTCCCATCACTGTCACCACCATTCTACTGTTTGTCTCTATGATTTAATATTCTCTTATATTCAATTCTAGAAGGAGAAATAATAATTCTTAGTTTGGTGTTTTATACTCCCCTGGGTCTAAATACTTTTATTTATTATTATTATTCTTTGATACGGGGGTCTCTCTATGTTGTTCATGCTAGAGTGCTGTTGCACAGTCATCTTTTACTGCAGCTATGACCTCCCAGGCTCGAGCCATTCTCCTGACTCAGTCTCCCGAGTAGCTGGGACTACAGATATGTATGACTACAGTGGCTAATTTTTATTTATTATTATTATTATTTTTTTAAACAGAGTCTTGCTCTGTCACCCAGGCCGGAGTACAATGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTCATGCCTTAGCCTCCCAAATAGTTGGGATTACAAGTGTATGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGTCCTCAAGTGATCCATCTGCCTTGGTTTCCCAAAGTGC
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Task1_train_9839
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The gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Sotos syndrome
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GTAGGACATTTTACCAGTTTTGGTACAGTGTAAGAAATGGGAGTCACTTATTAGTGCTCTTGGCTCACCCTATTTTCCTGCAATAGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTT
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GTAGGACATTTTACCAGTTTTGGTACAGTGTAAGAAATGGGAGTCACTTATTAGTGCTCTTGGCTCACCCTATTTTCCTGCAATAGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCTATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTT
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Task1_train_9840
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Chromosome 5 houses a mutation in gene NSD1 (nuclear receptor binding SET domain protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Sotos syndrome
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CCTGCAATAGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGC
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CCTGCAATAGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCGTGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGC
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Task1_train_9841
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A mutation on Chromosome 5 affecting NSD1 (nuclear receptor binding SET domain protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Sotos syndrome
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AGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTG
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AGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGAGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTG
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Task1_train_9842
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Here’s a variant in NSD1 (nuclear receptor binding SET domain protein 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Sotos syndrome
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AGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTG
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AGGGTGGTCACATCATTGTTTAGATTGCTTAGGTTTAATAATAGCTACCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGGGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTG
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Task1_train_9843
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A sequence alteration has been identified in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it disease-inducing or harmless?
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Pathogenic; Sotos syndrome
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GCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTCCTGGGATTACAGGCTTGAGCCACCGCGCCTGGAAAAACCCAATACTGTATC
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GCACTTTGGGAGGCTAAGGTGGGCGGATTTTTTAAGGTCAGAAGTTTGAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTATATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTCCTGGGATTACAGGCTTGAGCCACCGCGCCTGGAAAAACCCAATACTGTATC
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Task1_train_9844
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Given a variant located on Chromosome 5 and affecting NSD1 (nuclear receptor binding SET domain protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Sotos syndrome
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GAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAAGGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTCCTGGGATTACAGGCTTGAGCCACCGCGCCTGGAAAAACCCAATACTGTATCTCTGCTGGTGAATTCATGTGTGCCAAAAGAACCTTGACTTTTTCCAT
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GAGACCAGCCTGGCCAATGTGGTGAAACCTTGTCTCTACTGAAAATATAAAAATTAGCCAGGCATGGCGGTGGGTGCCTGTAATCCCACATACTTGGGAGGCTAAGTCACGAGAATTGCTTGATCCCAGGAGGTGGAGGTTGCAGTGAGCTGACAACATGCCACTGCACTCCATCCTGGGCGAGAGAGGGAGATTGAGTCTCAAAAAAAAAAAAAAGTTACCAGTTATTCAGCATCAGGTAGTGTTTTCCCTGTTTACAAATACATATTCAAATATTGTTCTTAAAATATTTATTTGCTGGATGTTCTCAGTGTTTATAGATAAAATGGATGATTTGAATGAGCCGTTTCCAGCAATTACCTGTAGGAGGATTCATGTTGAGGTCTGTTTACCTGTCAAGCTTAGGCTCTTTTTCTTATGTTGTACTGCATCTCACAGAGAGATAGAGGTCTGTGGTTTTTGTTTTGTTTTGTTTTTTTGTTTTTTTGTTTTGTTTTTCTGAGACAGTCTCCTTCTGTGGCCCAGGCTGGAGTTCGGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGAGATTCTCGTGCCTCAGCCTCTGTATTAGTTGGGATTATAGGCGCCTGCCACCACACCCAGCTAATTGTTTTGTATTTCTAGTAGAGACGGTGTCTCACTATGTTCCCCAGGCTAGGCTTAAATTCCTGGCCTCCAGTGATCCAATTGCCTTAGCCTCCCAAGTGCTGAGTACATTGCTTCTGGGTGGTTTTTGACTTTTTATTACAAAAATCTTAAGACATACACCAGGGTAGAACAATGTAAAGAATCTCCATGTATTCAGTTAATTTCAGTAGTTATCAACTTCTCTCTCATTTTCTCCCTATATTTCAAAAGGTTTCTAACACAACATCTAATGTATAGCGAGAATATGTAATAACTTCTTTGTGTCATCTACCAGCCAGTTCATTTTCAAATTTTCTCATTTGTCTCAGGGATGTCTTTTTATTATGTTTTGAATCAAGATCTAGATCCAGAGAGAGGCCAAAAACGTCTCTGTAGGTTTTGTTAGGGAGATTACCAGCATTGTATGTCGGGTGATTTCCTGTAGTGTAAACTTTTTTATACATCTCTTAAGTTTCTACTTATCTTTAACAATACTGCCCCCACACTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTTATCACCCAGGCTGGAGTGCACTGGTGTGATCTCAGCTCAGTAAACCTCCACCTTCCAGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACCACAGGCATGCATCACCACGCCCAGCTAATTTTTGTATGTTTAGTAGAGATGGAGTTTTGCCACGTTGCCTGGGCTGGCCTCGACTTCCTGGACTCAAGCCAGCCACTCACCTCAGCCTCCTGAAGTGCTGGGATTGTAGGCGTGAGCCTCCTCTCCCAGCCCAACTTAAATTTCGTTGGTTGCCTCCTGGAGGTATCCCCTTAACTTGTTCCTCTGTCATCCATATTTCCTGTAAACTTGTAGTTAGTCCAGGGGCTTGATTAGGTTTAATTTCAGTTTTTTCTTTTTTTGGCGGGGGTGCCAGCGGCAAGCATTTTCTGTAGACAATATGTACTTTCTGTTGTATCACGTCAGGGAGTATCTATTACCAGATTGTTCATTTATAATAATACTAAGATTGTTACAGTGGGTTCAGACGATGTCAAACCGATCAGTCCATTATAAAATTTCTTATGAACTTTTCACCTAATGGTTTAGCATTTGGTAGATTCTTGAATTCTTACTAATTTATCTTCTTTTGGCTTCTCAGGAATCCATACCTGTTTTGTATGTAAGCAGAGTGGGGAAGATGTTAAAAGGTGCCTTCTACCCTTGTGTGGAAAGTTTTACCATGAAGAGTGTGTCCAGAAGTACCCACCCACTGTTATGCAGAACAAGGGCTTCCGGTGCTCCCTCCACATCTGTATAACCTGTCATGCTGCTAATCCAGCCAATGTTTCTGCATCTAAATGTATGGATTTCTTATGTGGACCAGTCTAATTGTAAAACCTCAGTTTAATTGGCAACAGATATTTTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTGTGTTGCCGAGGCTGGAGTGCAGTGGCGTGATCTTGGCCCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGGCAACAGATATTTTCAAATGCAATCAATCCACCATGTCACTTTATGGCCTCTCTCTAGCTTTTATCAGAGAGATTACCAACATTGTATTTGGGAGAGAAGAGGGGCATAACGAACTAGTTCAGCAGCCAGGCAATGCCAGGGCTCCATAGAACACAATGTGGTCGTGTGGTAGGGTATTAAATATTTGGATTTCATGTGAGATGTAGTTTGAGAAAGTGTTCTGCTGCATGTCCTCTTCCCCCTATTGATTAGAAAACCAGAGTGTAGTCTTCCCCTGGGCTTTTTTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGTCTCCTCGATCTCCTGACCTCGTGAGCCACTCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCACGCGTGGCCCCCCTGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTCCTGGGATTACAGGCTTGAGCCACCGCGCCTGGAAAAACCCAATACTGTATCTCTGCTGGTGAATTCATGTGTGCCAAAAGAACCTTGACTTTTTCCAT
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Task1_train_9845
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A sequence alteration has been identified in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it disease-inducing or harmless?
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Pathogenic; not provided
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TGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTCCTGGGATTACAGGCTTGAGCCACCGCGCCTGGAAAAACCCAATACTGTATCTCTGCTGGTGAATTCATGTGTGCCAAAAGAACCTTGACTTTTTCCATAGAGGATTGAGGAGGTAAAATTTAGCAGTGTTGATGTTTGTTTTAATCAGACTGTCAGTACCTTTTTTAGGATTATTTCCTGGCCTCATGGGTCTCATAAGTAATTTCACTTGTTGGATCAAAATTGCAGTTTCGATGAGTGTGATGGTGTACACCTGTATTTCCAGCTTCTTGGGAAGGTAAAGCAGGAAGTGGGAAGACTGTTTGAGCACACAGACTTTGAGGTCACGTCCAGCCTTGGCAACACAGGGAAACCCCATGTCTTTATTAATACAAAGAAAAATGAAAAGAGTTGCAGTTGGCTACCTTCTCGTTTTTAATTGTTATTACAGATTGCATTAGAGGGTTTGGTGGTGGTTTCGTGATGGTTTATAATAGATGAAGTATTTGAGGGGATGTGTTTCCTCTGGAGAGGGTAGAGAGGTTCGTTCACTTGAAAGGCTTTAAAAGAATCACAGAGTTCCAGGCAAGCATTATTGTTGTCTCCCCTCTCCCTATTTATTCTGGGGCTGATTTCCTAGTTGTCAGGACAGTGGTTTGAGTTGGGCTTTCCCTTGTTGAAGCAGGCTCACTGACAGTTACGGGATTTGATTCCTTTTGGAGACTTATCACATAGCTCCCATCTGAGTTTTCTTGATGGATCGAGTGTTTAAGATCCATCATCTTAGTGGTCATTCCTTCTATTTGTGACATTTTTTCAGTGCTAACAAATAGACTTGAATAACTCACATTCTTTTTATATTTAATATTTTTGTTTTTCTTTTGCTTGTCCCTGATTTTCCTGCTTTAGGTCGGTTGATGCGCTGTGTCCGCTGTCCTGTGGCATACCACGCCAATGACTTTTGCCTGGCTGCTGGGTCAAAGATCCTTGCATCTAATAGTATCATCTGCCCTAATCACTTTACCCCTAGGCGGGGCTGCCGAAATCATGAGCATGTTAATGTTAGCTGGTGCTTTGTGTGCTCAGAAGGTAAGAAATCATTTCTTCCTCTATTTGTAGTCTAAAAAGGGATTAAATCAATGTTTTAATTGGAACAAAAATACTTTTCATCATATTGCCACTGGAAAAAATATTAGAAATGATACTATTCATCTGCCATTCAGGAAATGATGTCCCGAATTAATGATTACATAGCAGAACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAACGTTTCACTCTGTTGCCCAGGCTGGAGTGCTATGGCACAATCTCAGCTAACTGCAGCCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCCGACTAATTGTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCCTCTAGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGTGCCTGTCCAGCAGAACTTTTTAAAACTTGGCTTTGTTGCCCAATAGGGAGAGGTTTTATTTTTCTTATTTTGAATAATGACTTGAATTTTGTTAAAATGATAAACAATTGAAGCAGTAAAGACAAAAATTCACTTAATCTCACCATCAGAAAAAAAAAATCATTGCTTAATATTAAGTGGCATTATTCCAGACATTCATGCATGTCAGCAGATAGAAAGTCTGATACCTAGATAGAAACAATTCTTGAAAATAGCATTACCATGTAATTGTGTTTTGTTAACAAGCAATTTTATACAAATTAATAGAAAAAGAGTGAACGTGATGGAAAAAGCGAAGGGATTTGTGAACTTTAGTTATATATTTTCTCATTGTAAGAATATTAGTTCTTAAGAGATCACGTAGAGGAAAGATAAATTTTCTATATATTTTATTCTTAGCACTTTCACCCAGGCTGGAGTGAAGTGGTACAATCTCGGCTCACTGCAACCTCTGCTGCCACGCCACTCCCCATCCCTCCCCCACCGGTTCAAGCGATTCTACTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTTCAACATCATGCCCCACTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTTAACTTCTGACCTCAGTTGATCTACTCTCCTCAGCTTCCCAAAGTGCTAGGATTACAGACGTGAGCCAGTGTGCCCGGCCATTTTATTCATTTTTAAAATACTTGTTTTTTAGAGCAGAGTTAGTATAACCTTTTACGTATTTTCTTTTCTATCCTTATCATCCCTGACAACTTGATTTTTGCTAGTTAAATGGAAGATTTTAGCACTCATCACCAGTATGTTAATTGTAGTACCTAAAGTTCTGAATTCGTTATTTCAGTTTTTCTCTTGGTTGTCTGAACTTTTGTGATCCCACAGGTGCTCATTTCTCTGCTTTGAGGCATCATTTGCCTTTGTACTAGAAGGATATCTAGTACAAAGGTAAATGATACTTTTCTAAGTTCATGGTAATGGTATTGGTATTTTGTAATGGTATTTTTCTAAGTTCATTGTGGACTTTGCTCCACTATTTTCTAGTGATGAGAGTGGCACCAGTTCTTCAGTTTTCTCATTTATTTTCAGATTTTATTTTGTTGATTTAGTAGTTACTTGGCAATAATTTTTTTATTATCTACTTATTGATTATGCAGTTTCCTGAAAACCTGGCTGGCTCTGAACATTCTGAGGGACTAATTTTAAAAAGAGTCAATATATGTAATAGAATGAGCATTGTACTTTGAATCTCAAAGTCCAAGTTTGAATTCTGGCTTGTCTCTTCAGGCAAATTGCTTTACCAAGGCTTGGTTTGCTTGTTTATAAAATATAGGCTCTATTCCCTATCAC
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TGGGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTTTTGTTGCCTGGGCTAGAGTGCAATGGTGCAATCTCAGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACCATGCCTCGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCGGCCATTTTTATATCTCTGGTTTCAGTGTGATATCATTCAGAAATGCATGCCAAGGCAGGATTGGGGGTTTCGTGTTGATTTGTTTTTTGTTTGTTTGTTTTTTTAATGAAAACTCTTGTCCTAGAAATTTTCTTCTGCTTCATAGTTAAGCTGAGACCTGAGTTTTCCAAAACTGTCTGTGCATATAGGTAAACTTAAGTTTTGAAATGTGTTCTCTTTGGTAAAACAAGTTGTTTTTGTTGTTGTTGTTGTTTGTTGTTGTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACTGCAACCTCCACCACCTGGGTTCAAATGATTCTACTGTCTCAGCCTCCTGACTAGCTGGGATTACAGGCACATGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATATCGGTCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCAGCATGTGTTTTTTTGTTTGTTTTGTTTTGTTTTAAAACAGGAGGTCTCGCTCTGTTGCCCAGTGTGATCTCAACTCACTGCAATGTCCACCTCCCAGGTTCAAGAGATTCTCTTGCCTCAGCCCCTGGAGTAGCTTGGATTACAGGTGCTTGCCACCACTCCCGACTACTTTTTATATTTTTAGTATAGACGGGGTTTCGCCATGTTGGCCAGACTGTTCTGGAACCCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTCCTGGGATTACAGGCTTGAGCCACCGCGCCTGGAAAAACCCAATACTGTATCTCTGCTGGTGAATTCATGTGTGCCAAAAGAACCTTGACTTTTTCCATAGAGGATTGAGGAGGTAAAATTTAGCAGTGTTGATGTTTGTTTTAATCAGACTGTCAGTACCTTTTTTAGGATTATTTCCTGGCCTCATGGGTCTCATAAGTAATTTCACTTGTTGGATCAAAATTGCAGTTTCGATGAGTGTGATGGTGTACACCTGTATTTCCAGCTTCTTGGGAAGGTAAAGCAGGAAGTGGGAAGACTGTTTGAGCACACAGACTTTGAGGTCACGTCCAGCCTTGGCAACACAGGGAAACCCCATGTCTTTATTAATACAAAGAAAAATGAAAAGAGTTGCAGTTGGCTACCTTCTCGTTTTTAATTGTTATTACAGATTGCATTAGAGGGTTTGGTGGTGGTTTCGTGATGGTTTATAATAGATGAAGTATTTGAGGGGATGTGTTTCCTCTGGAGAGGGTAGAGAGGTTCGTTCACTTGAAAGGCTTTAAAAGAATCACAGAGTTCCAGGCAAGCATTATTGTTGTCTCCCCTCTCCCTATTTATTCTGGGGCTGATTTCCTAGTTGTCAGGACAGTGGTTTGAGTTGGGCTTTCCCTTGTTGAAGCAGGCTCACTGACAGTTACGGGATTTGATTCCTTTTGGAGACTTATCACATAGCTCCCATCTGAGTTTTCTTGATGGATCGAGTGTTTAAGATCCATCATCTTAGTGGTCATTCCTTCTATTTGTGACATTTTTTCAGTGCTAACAAATAGACTTGAATAACTCACATTCTTTTTATATTTAATATTTTTGTTTTTCTTTTGCTTGTCCCTGATTTTCCTGCTTTAGGTCGGTTGATGCGCTGTGTCCGCTGTCTTGTGGCATACCACGCCAATGACTTTTGCCTGGCTGCTGGGTCAAAGATCCTTGCATCTAATAGTATCATCTGCCCTAATCACTTTACCCCTAGGCGGGGCTGCCGAAATCATGAGCATGTTAATGTTAGCTGGTGCTTTGTGTGCTCAGAAGGTAAGAAATCATTTCTTCCTCTATTTGTAGTCTAAAAAGGGATTAAATCAATGTTTTAATTGGAACAAAAATACTTTTCATCATATTGCCACTGGAAAAAATATTAGAAATGATACTATTCATCTGCCATTCAGGAAATGATGTCCCGAATTAATGATTACATAGCAGAACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAACGTTTCACTCTGTTGCCCAGGCTGGAGTGCTATGGCACAATCTCAGCTAACTGCAGCCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCCGACTAATTGTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGCCCTCTAGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGTGCCTGTCCAGCAGAACTTTTTAAAACTTGGCTTTGTTGCCCAATAGGGAGAGGTTTTATTTTTCTTATTTTGAATAATGACTTGAATTTTGTTAAAATGATAAACAATTGAAGCAGTAAAGACAAAAATTCACTTAATCTCACCATCAGAAAAAAAAAATCATTGCTTAATATTAAGTGGCATTATTCCAGACATTCATGCATGTCAGCAGATAGAAAGTCTGATACCTAGATAGAAACAATTCTTGAAAATAGCATTACCATGTAATTGTGTTTTGTTAACAAGCAATTTTATACAAATTAATAGAAAAAGAGTGAACGTGATGGAAAAAGCGAAGGGATTTGTGAACTTTAGTTATATATTTTCTCATTGTAAGAATATTAGTTCTTAAGAGATCACGTAGAGGAAAGATAAATTTTCTATATATTTTATTCTTAGCACTTTCACCCAGGCTGGAGTGAAGTGGTACAATCTCGGCTCACTGCAACCTCTGCTGCCACGCCACTCCCCATCCCTCCCCCACCGGTTCAAGCGATTCTACTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTTCAACATCATGCCCCACTAATTTTTTTTTTTTTTTTTTTTTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTTAACTTCTGACCTCAGTTGATCTACTCTCCTCAGCTTCCCAAAGTGCTAGGATTACAGACGTGAGCCAGTGTGCCCGGCCATTTTATTCATTTTTAAAATACTTGTTTTTTAGAGCAGAGTTAGTATAACCTTTTACGTATTTTCTTTTCTATCCTTATCATCCCTGACAACTTGATTTTTGCTAGTTAAATGGAAGATTTTAGCACTCATCACCAGTATGTTAATTGTAGTACCTAAAGTTCTGAATTCGTTATTTCAGTTTTTCTCTTGGTTGTCTGAACTTTTGTGATCCCACAGGTGCTCATTTCTCTGCTTTGAGGCATCATTTGCCTTTGTACTAGAAGGATATCTAGTACAAAGGTAAATGATACTTTTCTAAGTTCATGGTAATGGTATTGGTATTTTGTAATGGTATTTTTCTAAGTTCATTGTGGACTTTGCTCCACTATTTTCTAGTGATGAGAGTGGCACCAGTTCTTCAGTTTTCTCATTTATTTTCAGATTTTATTTTGTTGATTTAGTAGTTACTTGGCAATAATTTTTTTATTATCTACTTATTGATTATGCAGTTTCCTGAAAACCTGGCTGGCTCTGAACATTCTGAGGGACTAATTTTAAAAAGAGTCAATATATGTAATAGAATGAGCATTGTACTTTGAATCTCAAAGTCCAAGTTTGAATTCTGGCTTGTCTCTTCAGGCAAATTGCTTTACCAAGGCTTGGTTTGCTTGTTTATAAAATATAGGCTCTATTCCCTATCAC
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Task1_train_9846
|
A mutation on Chromosome 5 affecting NSD1 (nuclear receptor binding SET domain protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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CCCGTGCAGGGCGGGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGGCAGAACGGGGAGGTGAAGGTCAGGTCTTCCACCTTGACGGTGTAGATGTCTACCTCCTTTATGAGGCAGGCGTTGGTAACCAGCTGTTTGAGGTCCACCACATCCACTAGGGTTTCCTTGATGGCCACATCTTTGATGCAAGATATATCGAAGCCATAAACGTTCTCCCACCAGTGGATCTTGTAGTCTTTGTACTGCCGGTCCTCGGTGGCCGTCACATACAGTGTGGCCCGTTCTGGGAAGATGAGGCTATTGGGCGCCAGCCACTTGTCCGGGCATAGAGCACAGTGTTGAGCATGGACTCGTAGAAGAGGCAGTTAGCCCATCCACTTGCTGATGATGATGTTCACCTTTTCCACCGGGAGCTCTATCTCCTCCACCTTCCCCTTGGTGATGGTCACCAAGTGGTCTAACTTGTTGGCTTTGACAATCTTCACCGCATAATCAGAGCTACTGGAACACTCGATGCCGATGACCTTGCGGGCCCGGCCTTGGCGGCGAACATGCAGAGGATGCTTGTGTCCGAGCCCACATCCAGCACCACCTTGTCTTTAAAGAGGTGGCGGTTGTGAAACATGGAGTTGCCGAAGTGGGCGTAGGAGTCAAAGTAGTAATCTTTGGACGTCATGCCCTCGACGTTCGGCTTCTCGCTGCTTTCCGCCTGGCCACAGGACACCTCCATGATGCAGTTCACGACCTCGGCGGCCGCCATCTTCACCCGCACCTACTCCTCTTCCGGCCGCCAAGACCCCCGCCTTTTTCTATAGTAGGATTTTAAGAGGTGAAAGAAGCACAGTGAGAACAAGATTAACTCGGATATATTCTTTGCTAAGGCTTTACTCCCCACTTCAGGGTAAAACTTGGAATTACATGTTTGAGTCTAGCATGTTTGAATCATGCTCATTTCTGGCAAGAGCGTGGCTCATTTCTTTTTGGCAACAAAATAAAATGCCTGCCCGTCTGCTGAAACTACTGTGTTTTGAAAGCATTTATATATTTATTTATTTGAGGCAAGAGCCTTGCTGTCACCCTGGCTGGAGTGCAGTGGTGCTGTCTTGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTTAGCCTCCCGAGTAGCTGGGAATACAGGCATGTGCCACCACGCGTGGCTAATTTTTTAGTAGATAGGGGGTTTCGCCCTGTTGGCCGGGCTGTTCTCTAACTCCTGACCTCAGGTGATCCACCTGCTGCAGCCTTCCAAAGTGCTGGGATTACAGGCCTGAGGCACTGTGCCCAGCCGAAAAGTTAGTAGTTCTAAAAGGAGGGAAGGAACTAACCATATGGAGATACTACTTATGTGTCAGACGCTACTAGGTAATTTATTAGCTAGGTGAATCTTCAAACAGATGTGGTTATTGTTTATTAGAGAAAACTCCTTACCGCTGAGGAAATTATAGCTCAGCAAGGAAAGTGAATTTCCCAAGGGCCTGTGGTCCTAGAGCTAGAATTCCAACCTGAACCTGACGAGAGTTAAATAAAGCTTATGCTGTTTATACTCTGGTCATTATGTGTCACTGATAATGTTTTTATTTAGTATATCTTTTAGTGAAGAGAAAGAAAATATATATATATATGTGTATGGATGTACACATACATGACTTGCAGTCTTGTGATCTGAATGCCACATTTTTTTATTCCCACAGGAGGCAGCCTTCTGTGCTGTGATTCTTGCCCTGCTGCTTTTCATCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTC
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CCCGTGCAGGGCGGGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGGCAGAACGGGGAGGTGAAGGTCAGGTCTTCCACCTTGACGGTGTAGATGTCTACCTCCTTTATGAGGCAGGCGTTGGTAACCAGCTGTTTGAGGTCCACCACATCCACTAGGGTTTCCTTGATGGCCACATCTTTGATGCAAGATATATCGAAGCCATAAACGTTCTCCCACCAGTGGATCTTGTAGTCTTTGTACTGCCGGTCCTCGGTGGCCGTCACATACAGTGTGGCCCGTTCTGGGAAGATGAGGCTATTGGGCGCCAGCCACTTGTCCGGGCATAGAGCACAGTGTTGAGCATGGACTCGTAGAAGAGGCAGTTAGCCCATCCACTTGCTGATGATGATGTTCACCTTTTCCACCGGGAGCTCTATCTCCTCCACCTTCCCCTTGGTGATGGTCACCAAGTGGTCTAACTTGTTGGCTTTGACAATCTTCACCGCATAATCAGAGCTACTGGAACACTCGATGCCGATGACCTTGCGGGCCCGGCCTTGGCGGCGAACATGCAGAGGATGCTTGTGTCCGAGCCCACATCCAGCACCACCTTGTCTTTAAAGAGGTGGCGGTTGTGAAACATGGAGTTGCCGAAGTGGGCGTAGGAGTCAAAGTAGTAATCTTTGGACGTCATGCCCTCGACGTTCGGCTTCTCGCTGCTTTCCGCCTGGCCACAGGACACCTCCATGATGCAGTTCACGACCTCGGCGGCCGCCATCTTCACCCGCACCTACTCCTCTTCCGGCCGCCAAGACCCCCGCCTTTTTCTATAGTAGGATTTTAAGAGGTGAAAGAAGCACAGTGAGAACAAGATTAACTCGGATATATTCTTTGCTAAGGCTTTACTCCCCACTTCAGGGTAAAACTTGGAATTACATGTTTGAGTCTAGCATGTTTGAATCATGCTCATTTCTGGCAAGAGCGTGGCTCATTTCTTTTTGGCAACAAAATAAAATGCCTGCCCGTCTGCTGAAACTACTGTGTTTTGAAAGCATTTATATATTTATTTATTTGAGGCAAGAGCCTTGCTGTCACCCTGGCTGGAGTGCAGTGGTGCTGTCTTGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTTAGCCTCCCGAGTAGCTGGGAATACAGGCATGTGCCACCACGCGTGGCTAATTTTTTAGTAGATAGGGGGTTTCGCCCTGTTGGCCGGGCTGTTCTCTAACTCCTGACCTCAGGTGATCCACCTGCTGCAGCCTTCCAAAGTGCTGGGATTACAGGCCTGAGGCACTGTGCCCAGCCGAAAAGTTAGTAGTTCTAAAAGGAGGGAAGGAACTAACCATATGGAGATACTACTTATGTGTCAGACGCTACTAGGTAATTTATTAGCTAGGTGAATCTTCAAACAGATGTGGTTATTGTTTATTAGAGAAAACTCCTTACCGCTGAGGAAATTATAGCTCAGCAAGGAAAGTGAATTTCCCAAGGGCCTGTGGTCCTAGAGCTAGAATTCCAACCTGAACCTGACGAGAGTTAAATAAAGCTTATGCTGTTTATACTCTGGTCATTATGTGTCACTGATAATGTTTTTATTTAGTATATCTTTTAGTGAAGAGAAAGAAAATATATATATATATGTGTATGGATGTACACATACATGACTTGCAGTCTTGTGATCTGAATGCCACATTTTTTTATTCCCACAGGAGGCAGCCTTCTGTGCTGTGATTCTTGCCGTGCTGCTTTTCATCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTC
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Task1_train_9847
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Here is a mutation in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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GCAGGGCGGGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGGCAGAACGGGGAGGTGAAGGTCAGGTCTTCCACCTTGACGGTGTAGATGTCTACCTCCTTTATGAGGCAGGCGTTGGTAACCAGCTGTTTGAGGTCCACCACATCCACTAGGGTTTCCTTGATGGCCACATCTTTGATGCAAGATATATCGAAGCCATAAACGTTCTCCCACCAGTGGATCTTGTAGTCTTTGTACTGCCGGTCCTCGGTGGCCGTCACATACAGTGTGGCCCGTTCTGGGAAGATGAGGCTATTGGGCGCCAGCCACTTGTCCGGGCATAGAGCACAGTGTTGAGCATGGACTCGTAGAAGAGGCAGTTAGCCCATCCACTTGCTGATGATGATGTTCACCTTTTCCACCGGGAGCTCTATCTCCTCCACCTTCCCCTTGGTGATGGTCACCAAGTGGTCTAACTTGTTGGCTTTGACAATCTTCACCGCATAATCAGAGCTACTGGAACACTCGATGCCGATGACCTTGCGGGCCCGGCCTTGGCGGCGAACATGCAGAGGATGCTTGTGTCCGAGCCCACATCCAGCACCACCTTGTCTTTAAAGAGGTGGCGGTTGTGAAACATGGAGTTGCCGAAGTGGGCGTAGGAGTCAAAGTAGTAATCTTTGGACGTCATGCCCTCGACGTTCGGCTTCTCGCTGCTTTCCGCCTGGCCACAGGACACCTCCATGATGCAGTTCACGACCTCGGCGGCCGCCATCTTCACCCGCACCTACTCCTCTTCCGGCCGCCAAGACCCCCGCCTTTTTCTATAGTAGGATTTTAAGAGGTGAAAGAAGCACAGTGAGAACAAGATTAACTCGGATATATTCTTTGCTAAGGCTTTACTCCCCACTTCAGGGTAAAACTTGGAATTACATGTTTGAGTCTAGCATGTTTGAATCATGCTCATTTCTGGCAAGAGCGTGGCTCATTTCTTTTTGGCAACAAAATAAAATGCCTGCCCGTCTGCTGAAACTACTGTGTTTTGAAAGCATTTATATATTTATTTATTTGAGGCAAGAGCCTTGCTGTCACCCTGGCTGGAGTGCAGTGGTGCTGTCTTGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTTAGCCTCCCGAGTAGCTGGGAATACAGGCATGTGCCACCACGCGTGGCTAATTTTTTAGTAGATAGGGGGTTTCGCCCTGTTGGCCGGGCTGTTCTCTAACTCCTGACCTCAGGTGATCCACCTGCTGCAGCCTTCCAAAGTGCTGGGATTACAGGCCTGAGGCACTGTGCCCAGCCGAAAAGTTAGTAGTTCTAAAAGGAGGGAAGGAACTAACCATATGGAGATACTACTTATGTGTCAGACGCTACTAGGTAATTTATTAGCTAGGTGAATCTTCAAACAGATGTGGTTATTGTTTATTAGAGAAAACTCCTTACCGCTGAGGAAATTATAGCTCAGCAAGGAAAGTGAATTTCCCAAGGGCCTGTGGTCCTAGAGCTAGAATTCCAACCTGAACCTGACGAGAGTTAAATAAAGCTTATGCTGTTTATACTCTGGTCATTATGTGTCACTGATAATGTTTTTATTTAGTATATCTTTTAGTGAAGAGAAAGAAAATATATATATATATGTGTATGGATGTACACATACATGACTTGCAGTCTTGTGATCTGAATGCCACATTTTTTTATTCCCACAGGAGGCAGCCTTCTGTGCTGTGATTCTTGCCCTGCTGCTTTTCATCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCC
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GCAGGGCGGGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGGCAGAACGGGGAGGTGAAGGTCAGGTCTTCCACCTTGACGGTGTAGATGTCTACCTCCTTTATGAGGCAGGCGTTGGTAACCAGCTGTTTGAGGTCCACCACATCCACTAGGGTTTCCTTGATGGCCACATCTTTGATGCAAGATATATCGAAGCCATAAACGTTCTCCCACCAGTGGATCTTGTAGTCTTTGTACTGCCGGTCCTCGGTGGCCGTCACATACAGTGTGGCCCGTTCTGGGAAGATGAGGCTATTGGGCGCCAGCCACTTGTCCGGGCATAGAGCACAGTGTTGAGCATGGACTCGTAGAAGAGGCAGTTAGCCCATCCACTTGCTGATGATGATGTTCACCTTTTCCACCGGGAGCTCTATCTCCTCCACCTTCCCCTTGGTGATGGTCACCAAGTGGTCTAACTTGTTGGCTTTGACAATCTTCACCGCATAATCAGAGCTACTGGAACACTCGATGCCGATGACCTTGCGGGCCCGGCCTTGGCGGCGAACATGCAGAGGATGCTTGTGTCCGAGCCCACATCCAGCACCACCTTGTCTTTAAAGAGGTGGCGGTTGTGAAACATGGAGTTGCCGAAGTGGGCGTAGGAGTCAAAGTAGTAATCTTTGGACGTCATGCCCTCGACGTTCGGCTTCTCGCTGCTTTCCGCCTGGCCACAGGACACCTCCATGATGCAGTTCACGACCTCGGCGGCCGCCATCTTCACCCGCACCTACTCCTCTTCCGGCCGCCAAGACCCCCGCCTTTTTCTATAGTAGGATTTTAAGAGGTGAAAGAAGCACAGTGAGAACAAGATTAACTCGGATATATTCTTTGCTAAGGCTTTACTCCCCACTTCAGGGTAAAACTTGGAATTACATGTTTGAGTCTAGCATGTTTGAATCATGCTCATTTCTGGCAAGAGCGTGGCTCATTTCTTTTTGGCAACAAAATAAAATGCCTGCCCGTCTGCTGAAACTACTGTGTTTTGAAAGCATTTATATATTTATTTATTTGAGGCAAGAGCCTTGCTGTCACCCTGGCTGGAGTGCAGTGGTGCTGTCTTGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTTAGCCTCCCGAGTAGCTGGGAATACAGGCATGTGCCACCACGCGTGGCTAATTTTTTAGTAGATAGGGGGTTTCGCCCTGTTGGCCGGGCTGTTCTCTAACTCCTGACCTCAGGTGATCCACCTGCTGCAGCCTTCCAAAGTGCTGGGATTACAGGCCTGAGGCACTGTGCCCAGCCGAAAAGTTAGTAGTTCTAAAAGGAGGGAAGGAACTAACCATATGGAGATACTACTTATGTGTCAGACGCTACTAGGTAATTTATTAGCTAGGTGAATCTTCAAACAGATGTGGTTATTGTTTATTAGAGAAAACTCCTTACCGCTGAGGAAATTATAGCTCAGCAAGGAAAGTGAATTTCCCAAGGGCCTGTGGTCCTAGAGCTAGAATTCCAACCTGAACCTGACGAGAGTTAAATAAAGCTTATGCTGTTTATACTCTGGTCATTATGTGTCACTGATAATGTTTTTATTTAGTATATCTTTTAGTGAAGAGAAAGAAAATATATATATATATGTGTATGGATGTACACATACATGACTTGCAGTCTTGTGATCTGAATGCCACATTTTTTTATTCCCACAGGAGGCAGCCTTCTGTGCTGTGATTCTTGCCCTGCTCCTTTTCATCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCC
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Task1_train_9848
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Mutation context: Chromosome 5, Gene NSD1 (nuclear receptor binding SET domain protein 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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GGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGGCAGAACGGGGAGGTGAAGGTCAGGTCTTCCACCTTGACGGTGTAGATGTCTACCTCCTTTATGAGGCAGGCGTTGGTAACCAGCTGTTTGAGGTCCACCACATCCACTAGGGTTTCCTTGATGGCCACATCTTTGATGCAAGATATATCGAAGCCATAAACGTTCTCCCACCAGTGGATCTTGTAGTCTTTGTACTGCCGGTCCTCGGTGGCCGTCACATACAGTGTGGCCCGTTCTGGGAAGATGAGGCTATTGGGCGCCAGCCACTTGTCCGGGCATAGAGCACAGTGTTGAGCATGGACTCGTAGAAGAGGCAGTTAGCCCATCCACTTGCTGATGATGATGTTCACCTTTTCCACCGGGAGCTCTATCTCCTCCACCTTCCCCTTGGTGATGGTCACCAAGTGGTCTAACTTGTTGGCTTTGACAATCTTCACCGCATAATCAGAGCTACTGGAACACTCGATGCCGATGACCTTGCGGGCCCGGCCTTGGCGGCGAACATGCAGAGGATGCTTGTGTCCGAGCCCACATCCAGCACCACCTTGTCTTTAAAGAGGTGGCGGTTGTGAAACATGGAGTTGCCGAAGTGGGCGTAGGAGTCAAAGTAGTAATCTTTGGACGTCATGCCCTCGACGTTCGGCTTCTCGCTGCTTTCCGCCTGGCCACAGGACACCTCCATGATGCAGTTCACGACCTCGGCGGCCGCCATCTTCACCCGCACCTACTCCTCTTCCGGCCGCCAAGACCCCCGCCTTTTTCTATAGTAGGATTTTAAGAGGTGAAAGAAGCACAGTGAGAACAAGATTAACTCGGATATATTCTTTGCTAAGGCTTTACTCCCCACTTCAGGGTAAAACTTGGAATTACATGTTTGAGTCTAGCATGTTTGAATCATGCTCATTTCTGGCAAGAGCGTGGCTCATTTCTTTTTGGCAACAAAATAAAATGCCTGCCCGTCTGCTGAAACTACTGTGTTTTGAAAGCATTTATATATTTATTTATTTGAGGCAAGAGCCTTGCTGTCACCCTGGCTGGAGTGCAGTGGTGCTGTCTTGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTTAGCCTCCCGAGTAGCTGGGAATACAGGCATGTGCCACCACGCGTGGCTAATTTTTTAGTAGATAGGGGGTTTCGCCCTGTTGGCCGGGCTGTTCTCTAACTCCTGACCTCAGGTGATCCACCTGCTGCAGCCTTCCAAAGTGCTGGGATTACAGGCCTGAGGCACTGTGCCCAGCCGAAAAGTTAGTAGTTCTAAAAGGAGGGAAGGAACTAACCATATGGAGATACTACTTATGTGTCAGACGCTACTAGGTAATTTATTAGCTAGGTGAATCTTCAAACAGATGTGGTTATTGTTTATTAGAGAAAACTCCTTACCGCTGAGGAAATTATAGCTCAGCAAGGAAAGTGAATTTCCCAAGGGCCTGTGGTCCTAGAGCTAGAATTCCAACCTGAACCTGACGAGAGTTAAATAAAGCTTATGCTGTTTATACTCTGGTCATTATGTGTCACTGATAATGTTTTTATTTAGTATATCTTTTAGTGAAGAGAAAGAAAATATATATATATATGTGTATGGATGTACACATACATGACTTGCAGTCTTGTGATCTGAATGCCACATTTTTTTATTCCCACAGGAGGCAGCCTTCTGTGCTGTGATTCTTGCCCTGCTGCTTTTCATCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCCAACATTGA
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GGAGAGCCGGGCCTCAGCACATCCTGTAGTCTGTGGAGCAGGACAGGTCGCACAGATGGCCCCTGAAATCTAGGTTGATGGTGAAGTCCCGGTCCCAGTTCTTGGCGTTGGGCCGCATGCCGATGGTGCCGAAGATCTCCTCGCCCGTCTTCAAGGTCAGGTAGTCCTCCATGTAGAACACCGTCTGCTTCCAGTGCGTGTACAGGGACTCGGGTATGGTGGAGAAGCCGGTCCCTCCGGTCCTCTTGTGGCAGTGCGTAAACTCGATGTTGAAGTAGGCCACCTGGGTGTGCACGTAGTCATTCTGCTTCACTTGCAGGCAGAACGGGGAGGTGAAGGTCAGGTCTTCCACCTTGACGGTGTAGATGTCTACCTCCTTTATGAGGCAGGCGTTGGTAACCAGCTGTTTGAGGTCCACCACATCCACTAGGGTTTCCTTGATGGCCACATCTTTGATGCAAGATATATCGAAGCCATAAACGTTCTCCCACCAGTGGATCTTGTAGTCTTTGTACTGCCGGTCCTCGGTGGCCGTCACATACAGTGTGGCCCGTTCTGGGAAGATGAGGCTATTGGGCGCCAGCCACTTGTCCGGGCATAGAGCACAGTGTTGAGCATGGACTCGTAGAAGAGGCAGTTAGCCCATCCACTTGCTGATGATGATGTTCACCTTTTCCACCGGGAGCTCTATCTCCTCCACCTTCCCCTTGGTGATGGTCACCAAGTGGTCTAACTTGTTGGCTTTGACAATCTTCACCGCATAATCAGAGCTACTGGAACACTCGATGCCGATGACCTTGCGGGCCCGGCCTTGGCGGCGAACATGCAGAGGATGCTTGTGTCCGAGCCCACATCCAGCACCACCTTGTCTTTAAAGAGGTGGCGGTTGTGAAACATGGAGTTGCCGAAGTGGGCGTAGGAGTCAAAGTAGTAATCTTTGGACGTCATGCCCTCGACGTTCGGCTTCTCGCTGCTTTCCGCCTGGCCACAGGACACCTCCATGATGCAGTTCACGACCTCGGCGGCCGCCATCTTCACCCGCACCTACTCCTCTTCCGGCCGCCAAGACCCCCGCCTTTTTCTATAGTAGGATTTTAAGAGGTGAAAGAAGCACAGTGAGAACAAGATTAACTCGGATATATTCTTTGCTAAGGCTTTACTCCCCACTTCAGGGTAAAACTTGGAATTACATGTTTGAGTCTAGCATGTTTGAATCATGCTCATTTCTGGCAAGAGCGTGGCTCATTTCTTTTTGGCAACAAAATAAAATGCCTGCCCGTCTGCTGAAACTACTGTGTTTTGAAAGCATTTATATATTTATTTATTTGAGGCAAGAGCCTTGCTGTCACCCTGGCTGGAGTGCAGTGGTGCTGTCTTGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTCTCCTGTCTTAGCCTCCCGAGTAGCTGGGAATACAGGCATGTGCCACCACGCGTGGCTAATTTTTTAGTAGATAGGGGGTTTCGCCCTGTTGGCCGGGCTGTTCTCTAACTCCTGACCTCAGGTGATCCACCTGCTGCAGCCTTCCAAAGTGCTGGGATTACAGGCCTGAGGCACTGTGCCCAGCCGAAAAGTTAGTAGTTCTAAAAGGAGGGAAGGAACTAACCATATGGAGATACTACTTATGTGTCAGACGCTACTAGGTAATTTATTAGCTAGGTGAATCTTCAAACAGATGTGGTTATTGTTTATTAGAGAAAACTCCTTACCGCTGAGGAAATTATAGCTCAGCAAGGAAAGTGAATTTCCCAAGGGCCTGTGGTCCTAGAGCTAGAATTCCAACCTGAACCTGACGAGAGTTAAATAAAGCTTATGCTGTTTATACTCTGGTCATTATGTGTCACTGATAATGTTTTTATTTAGTATATCTTTTAGTGAAGAGAAAGAAAATATATATATATATGTGTATGGATGTACACATACATGACTTGCAGTCTTGTGATCTGAATGCCACATTTTTTTATTCCCACAGGAGGCAGCCTTCTGTGCTGTGATTCTTGCCCTGCTGCTTTTCAGCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCCAACATTGA
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Task1_train_9849
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This alteration occurs within gene LOC126807619, NSD1 (MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642| nuclear receptor binding SET domain protein 1) located on Chromosome 5. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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TTCTGTGCTGTGATTCTTGCCCTGCTGCTTTTCATCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCCAACATTGATAAGATGAGACATGATGTGGGAGAGTTCCCAGTCCTCTTTTTTGGATCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGAGGGTGACGTGAGCAGCAAGGATAAGATGGGCAAAGGAGTGGATGGGACATATAAAAAAGGTAACTTTATCCTTTTTGTTTCTCAGGCAAACACAGACCTCTGTTACCTGAGTGTCTGATCTGTTTTAGAATTCACATATGCTCCATTTTGAAACTGCCTTTGTCCTCTCAGGGCATTATCTGGCTGCAAATACAGTATTTTGCAAGGAAGTTGACCCATGTAACTCATTATTTTTGAGCCTTAACCTTTACTTAATTTGAATTTCCTTGAGCTTTTTTTTGACTTATCAGTTGTTTTGTCAGCATTCCATCAAATAATGGAGTTCTGAAACTATTTCATAGAAGAAACACTTCAGTTTGCTAGACAGAGGCTCAGATCTCTAGCAGAGCTACATTTGCTCCAAGGAGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGAGCTCGTTGGGAAGAAGTAAAATTCACCAGATATTGTAGAACAAACTAGTAAAGGTCAAAGCATAAATGCTCTGAATCAAAATAAAGTTTTGTAAACTGGCCTAGCAATGAAGGCAGGGTGCCCTGTTATAAGCAGAACTAGTTTTACTGCTTACCAGGTGGTCCAATCAACTTCGAACCCGGTTTTCTCTTACCATGTAATGGAGAAAGTTTGCTCTTAGAATACAGTGGGATTATAAAAAGTGTCCCTGCAGAGTACATAATTGGTATCCCCTTAGTGGTAATTACCTTCTTCCTCTAGCTGTCCTTTGAAAGATAATATATCCCTTGCTATTTAATTTATTTGGTACTTAAAGTACAAATGGTTCCCAACTCAGAATGGTCCAACTTACAGCTTTATGATGATGCACTTCCATTATGTTCCTCAGCTTATGATGGGATTACATCCAGGTAAACCAATTGTTAACATGAGGAGCATCTGTGTAAGACTTTGTCTATAGGGTGAGATGAAAAGGGATTCTAAGCAAGTGACATGGAAGAAGATTCTAAGCAGGTAAAACTTCCTGGTTAGGGAATGGGAGTAATGTCGATAGGGAACAAGTTTAACAAAGGTTCTGTTTGCCACATGTTATTTTAGTAGCTCCTCACTTACCCTGTTTGTCTTGTGGTTTCTGTACATAGATATGGGCTGTCTATCAGTTCTACTGCTAATACAAAAATACATAGTACTGTGCTGTTAGTACTAATACTTCAGGAGCTGGGGTCTTGAGTCTTGTAATCTCAGGTGGTCAGGGATAAAGTCGCCAGTATTTTGGCCTGCACAGAGCTGGCCACCACTGAGACTGGGGGAGAAGGCGGAGTATAAGGAATACCGCAGGTCTGAGCCTGCCTAAGCTCTGAGATTCTGCCTTAATCAGGGGGTTTCTAGGTGCCTCTGACTTCTTCGAGCTTGTATTTTTGCAGGAGAATCTGAAATAGATACCAGCAGTCGAAATACCTGCCGGGATTTTGGTATTATTAATATTGTGGCAGAAGTGTGTATTGTATATGCTGTGGGAACAGAGCAAGAAGAAGCTGGGGAGCAATGTTTGGAAGTCATGAATGATTACTAAGTGACTTTGAGGAATGAATCATAATAATAATAGTTAGCATTTTTGTTTGCCAGACCCTGTTCTGTGTTTATTTTCTGCTTTAAGTGCTTATGATAACCCTATGAGGTGGATACCATCCTGATCTTGCAGATGAGGAAACTGAGGCACATTAATGTTAAAGTACTCGCCTAACATATCAGTACCAGTAAGTGATAGAGGAATGTTTCTGACTCTTATAGTAGGGCCAGAATCTAACCTCTACACTGACTTTGAAGAAGGAAAAGGACTTAAAATGTGATACATTTTACCAAGAAGGCATCACATGTGAAAGCACGTGTTGAATCTATTAATAAAATCCTGAGTTAGCAACCTCCAAGTATTTGGT
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TTCTGTGCTGTGATTCTTGCCCTGCTGCTTTTCATCGTGAATGCCTGAACATTGATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGAACTGCCATCCTCGAGCTGTTCCTTCCAACATTGATAAGATGAGACATGATGTGGGAGAGTTCCCAGTCCTCTTTTTTGGATCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGAGGGTGACGTGAGCAGCAAGGATAAGATGGGCAAAGGAGTGGATGGGACATATAAAAAAGGTAACTTTATCCTTTTTGTTTCTCAGGCAAACACAGACCTCTGTTACCTGAGTGTCTGATCTGTTTTAGAATTCACATATGCTCCATTTTGAAACTGCCTTTGTCCTCTCAGGGCATTATCTGGCTGCAAATACAGTATTTTGCAAGGAAGTTGACCCATGTAACTCATTATTTTTGAGCCTTAACCTTTACTTAATTTGAATTTCCTTGAGCTTTTTTTTGACTTATCAGTTGTTTTGTCAGCATTCCATCAAATAATGGAGTTCTGAAACTATTTCATAGAAGAAACACTTCAGTTTGCTAGACAGAGGCTCAGATCTCTAGCAGAGCTACATTTGCTCCAAGGAGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGAGCTCGTTGGGAAGAAGTAAAATTCACCAGATATTGTAGAACAAACTAGTAAAGGTCAAAGCATAAATGCTCTGAATCAAAATAAAGTTTTGTAAACTGGCCTAGCAATGAAGGCAGGGTGCCCTGTTATAAGCAGAACTAGTTTTACTGCTTACCAGGTGGTCCAATCAACTTCGAACCCGGTTTTCTCTTACCATGTAATGGAGAAAGTTTGCTCTTAGAATACAGTGGGATTATAAAAAGTGTCCCTGCAGAGTACATAATTGGTATCCCCTTAGTGGTAATTACCTTCTTCCTCTAGCTGTCCTTTGAAAGATAATATATCCCTTGCTATTTAATTTATTTGGTACTTAAAGTACAAATGGTTCCCAACTCAGAATGGTCCAACTTACAGCTTTATGATGATGCACTTCCATTATGTTCCTCAGCTTATGATGGGATTACATCCAGGTAAACCAATTGTTAACATGAGGAGCATCTGTGTAAGACTTTGTCTATAGGGTGAGATGAAAAGGGATTCTAAGCAAGTGACATGGAAGAAGATTCTAAGCAGGTAAAACTTCCTGGTTAGGGAATGGGAGTAATGTCGATAGGGAACAAGTTTAACAAAGGTTCTGTTTGCCACATGTTATTTTAGTAGCTCCTCACTTACCCTGTTTGTCTTGTGGTTTCTGTACATAGATATGGGCTGTCTATCAGTTCTACTGCTAATACAAAAATACATAGTACTGTGCTGTTAGTACTAATACTTCAGGAGCTGGGGTCTTGAGTCTTGTAATCTCAGGTGGTCAGGGATAAAGTCGCCAGTATTTTGGCCTGCACAGAGCTGGCCACCACTGAGACTGGGGGAGAAGGCGGAGTATAAGGAATACCGCAGGTCTGAGCCTGCCTAAGCTCTGAGATTCTGCCTTAATCAGGGGGTTTCTAGGTGCCTCTGACTTCTTCGAGCTTGTATTTTTGCAGGAGAATCTGAAATAGATACCAGCAGTCGAAATACCTGCCGGGATTTTGGTATTATTAATATTGTGGCAGAAGTGTGTATTGTATATGCTGTGGGAACAGAGCAAGAAGAAGCTGGGGAGCAATGTTTGGAAGTCATGAATGATTACTAAGTGACTTTGAGGAATGAATCATAATAATAATAGTTAGCATTTTTGTTTGCCAGACCCTGTTCTGTGTTTATTTTCTGCTTTAAGTGCTTATGATAACCCTATGAGGTGGATACCATCCTGATCTTGCAGATGAGGAAACTGAGGCACATTAATGTTAAAGTACTCGCCTAACATATCAGTACCAGTAAGTGATAGAGGAATGTTTCTGACTCTTATAGTAGGGCCAGAATCTAACCTCTACACTGACTTTGAAGAAGGAAAAGGACTTAAAATGTGATACATTTTACCAAGAAGGCATCACATGTGAAAGCACGTGTTGAATCTATTAATAAAATCCTGAGTTAGCAACCTCCAAGTATTTGGT
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Task1_train_9850
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A genomic change on Chromosome 5 affects LOC126807619, NSD1 (MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642| nuclear receptor binding SET domain protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Sotos syndrome
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ATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCCAACATTGATAAGATGAGACATGATGTGGGAGAGTTCCCAGTCCTCTTTTTTGGATCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGAGGGTGACGTGAGCAGCAAGGATAAGATGGGCAAAGGAGTGGATGGGACATATAAAAAAGGTAACTTTATCCTTTTTGTTTCTCAGGCAAACACAGACCTCTGTTACCTGAGTGTCTGATCTGTTTTAGAATTCACATATGCTCCATTTTGAAACTGCCTTTGTCCTCTCAGGGCATTATCTGGCTGCAAATACAGTATTTTGCAAGGAAGTTGACCCATGTAACTCATTATTTTTGAGCCTTAACCTTTACTTAATTTGAATTTCCTTGAGCTTTTTTTTGACTTATCAGTTGTTTTGTCAGCATTCCATCAAATAATGGAGTTCTGAAACTATTTCATAGAAGAAACACTTCAGTTTGCTAGACAGAGGCTCAGATCTCTAGCAGAGCTACATTTGCTCCAAGGAGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGAGCTCGTTGGGAAGAAGTAAAATTCACCAGATATTGTAGAACAAACTAGTAAAGGTCAAAGCATAAATGCTCTGAATCAAAATAAAGTTTTGTAAACTGGCCTAGCAATGAAGGCAGGGTGCCCTGTTATAAGCAGAACTAGTTTTACTGCTTACCAGGTGGTCCAATCAACTTCGAACCCGGTTTTCTCTTACCATGTAATGGAGAAAGTTTGCTCTTAGAATACAGTGGGATTATAAAAAGTGTCCCTGCAGAGTACATAATTGGTATCCCCTTAGTGGTAATTACCTTCTTCCTCTAGCTGTCCTTTGAAAGATAATATATCCCTTGCTATTTAATTTATTTGGTACTTAAAGTACAAATGGTTCCCAACTCAGAATGGTCCAACTTACAGCTTTATGATGATGCACTTCCATTATGTTCCTCAGCTTATGATGGGATTACATCCAGGTAAACCAATTGTTAACATGAGGAGCATCTGTGTAAGACTTTGTCTATAGGGTGAGATGAAAAGGGATTCTAAGCAAGTGACATGGAAGAAGATTCTAAGCAGGTAAAACTTCCTGGTTAGGGAATGGGAGTAATGTCGATAGGGAACAAGTTTAACAAAGGTTCTGTTTGCCACATGTTATTTTAGTAGCTCCTCACTTACCCTGTTTGTCTTGTGGTTTCTGTACATAGATATGGGCTGTCTATCAGTTCTACTGCTAATACAAAAATACATAGTACTGTGCTGTTAGTACTAATACTTCAGGAGCTGGGGTCTTGAGTCTTGTAATCTCAGGTGGTCAGGGATAAAGTCGCCAGTATTTTGGCCTGCACAGAGCTGGCCACCACTGAGACTGGGGGAGAAGGCGGAGTATAAGGAATACCGCAGGTCTGAGCCTGCCTAAGCTCTGAGATTCTGCCTTAATCAGGGGGTTTCTAGGTGCCTCTGACTTCTTCGAGCTTGTATTTTTGCAGGAGAATCTGAAATAGATACCAGCAGTCGAAATACCTGCCGGGATTTTGGTATTATTAATATTGTGGCAGAAGTGTGTATTGTATATGCTGTGGGAACAGAGCAAGAAGAAGCTGGGGAGCAATGTTTGGAAGTCATGAATGATTACTAAGTGACTTTGAGGAATGAATCATAATAATAATAGTTAGCATTTTTGTTTGCCAGACCCTGTTCTGTGTTTATTTTCTGCTTTAAGTGCTTATGATAACCCTATGAGGTGGATACCATCCTGATCTTGCAGATGAGGAAACTGAGGCACATTAATGTTAAAGTACTCGCCTAACATATCAGTACCAGTAAGTGATAGAGGAATGTTTCTGACTCTTATAGTAGGGCCAGAATCTAACCTCTACACTGACTTTGAAGAAGGAAAAGGACTTAAAATGTGATACATTTTACCAAGAAGGCATCACATGTGAAAGCACGTGTTGAATCTATTAATAAAATCCTGAGTTAGCAACCTCCAAGTATTTGGTACAGTTTAAGCACATGGTTGGGGGAGTGTTGGGCTATTTTCCTGAAAGGATGAA
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ATATCCCTGAAGGAAACTGGTATTGCAATGACTGTAAAGCAGGCAAAAAGCCACACTACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCCAACATTGATAAGATGAGACATGATGTGGAAGAGTTCCCAGTCCTCTTTTTTGGATCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGAGGGTGACGTGAGCAGCAAGGATAAGATGGGCAAAGGAGTGGATGGGACATATAAAAAAGGTAACTTTATCCTTTTTGTTTCTCAGGCAAACACAGACCTCTGTTACCTGAGTGTCTGATCTGTTTTAGAATTCACATATGCTCCATTTTGAAACTGCCTTTGTCCTCTCAGGGCATTATCTGGCTGCAAATACAGTATTTTGCAAGGAAGTTGACCCATGTAACTCATTATTTTTGAGCCTTAACCTTTACTTAATTTGAATTTCCTTGAGCTTTTTTTTGACTTATCAGTTGTTTTGTCAGCATTCCATCAAATAATGGAGTTCTGAAACTATTTCATAGAAGAAACACTTCAGTTTGCTAGACAGAGGCTCAGATCTCTAGCAGAGCTACATTTGCTCCAAGGAGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGAGCTCGTTGGGAAGAAGTAAAATTCACCAGATATTGTAGAACAAACTAGTAAAGGTCAAAGCATAAATGCTCTGAATCAAAATAAAGTTTTGTAAACTGGCCTAGCAATGAAGGCAGGGTGCCCTGTTATAAGCAGAACTAGTTTTACTGCTTACCAGGTGGTCCAATCAACTTCGAACCCGGTTTTCTCTTACCATGTAATGGAGAAAGTTTGCTCTTAGAATACAGTGGGATTATAAAAAGTGTCCCTGCAGAGTACATAATTGGTATCCCCTTAGTGGTAATTACCTTCTTCCTCTAGCTGTCCTTTGAAAGATAATATATCCCTTGCTATTTAATTTATTTGGTACTTAAAGTACAAATGGTTCCCAACTCAGAATGGTCCAACTTACAGCTTTATGATGATGCACTTCCATTATGTTCCTCAGCTTATGATGGGATTACATCCAGGTAAACCAATTGTTAACATGAGGAGCATCTGTGTAAGACTTTGTCTATAGGGTGAGATGAAAAGGGATTCTAAGCAAGTGACATGGAAGAAGATTCTAAGCAGGTAAAACTTCCTGGTTAGGGAATGGGAGTAATGTCGATAGGGAACAAGTTTAACAAAGGTTCTGTTTGCCACATGTTATTTTAGTAGCTCCTCACTTACCCTGTTTGTCTTGTGGTTTCTGTACATAGATATGGGCTGTCTATCAGTTCTACTGCTAATACAAAAATACATAGTACTGTGCTGTTAGTACTAATACTTCAGGAGCTGGGGTCTTGAGTCTTGTAATCTCAGGTGGTCAGGGATAAAGTCGCCAGTATTTTGGCCTGCACAGAGCTGGCCACCACTGAGACTGGGGGAGAAGGCGGAGTATAAGGAATACCGCAGGTCTGAGCCTGCCTAAGCTCTGAGATTCTGCCTTAATCAGGGGGTTTCTAGGTGCCTCTGACTTCTTCGAGCTTGTATTTTTGCAGGAGAATCTGAAATAGATACCAGCAGTCGAAATACCTGCCGGGATTTTGGTATTATTAATATTGTGGCAGAAGTGTGTATTGTATATGCTGTGGGAACAGAGCAAGAAGAAGCTGGGGAGCAATGTTTGGAAGTCATGAATGATTACTAAGTGACTTTGAGGAATGAATCATAATAATAATAGTTAGCATTTTTGTTTGCCAGACCCTGTTCTGTGTTTATTTTCTGCTTTAAGTGCTTATGATAACCCTATGAGGTGGATACCATCCTGATCTTGCAGATGAGGAAACTGAGGCACATTAATGTTAAAGTACTCGCCTAACATATCAGTACCAGTAAGTGATAGAGGAATGTTTCTGACTCTTATAGTAGGGCCAGAATCTAACCTCTACACTGACTTTGAAGAAGGAAAAGGACTTAAAATGTGATACATTTTACCAAGAAGGCATCACATGTGAAAGCACGTGTTGAATCTATTAATAAAATCCTGAGTTAGCAACCTCCAAGTATTTGGTACAGTTTAAGCACATGGTTGGGGGAGTGTTGGGCTATTTTCCTGAAAGGATGAA
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Task1_train_9851
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This mutation is located in gene LOC126807619, NSD1 (MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642| nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Sotos syndrome
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ACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCCAACATTGATAAGATGAGACATGATGTGGGAGAGTTCCCAGTCCTCTTTTTTGGATCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTCCCTTACATGGAGGGTGACGTGAGCAGCAAGGATAAGATGGGCAAAGGAGTGGATGGGACATATAAAAAAGGTAACTTTATCCTTTTTGTTTCTCAGGCAAACACAGACCTCTGTTACCTGAGTGTCTGATCTGTTTTAGAATTCACATATGCTCCATTTTGAAACTGCCTTTGTCCTCTCAGGGCATTATCTGGCTGCAAATACAGTATTTTGCAAGGAAGTTGACCCATGTAACTCATTATTTTTGAGCCTTAACCTTTACTTAATTTGAATTTCCTTGAGCTTTTTTTTGACTTATCAGTTGTTTTGTCAGCATTCCATCAAATAATGGAGTTCTGAAACTATTTCATAGAAGAAACACTTCAGTTTGCTAGACAGAGGCTCAGATCTCTAGCAGAGCTACATTTGCTCCAAGGAGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGAGCTCGTTGGGAAGAAGTAAAATTCACCAGATATTGTAGAACAAACTAGTAAAGGTCAAAGCATAAATGCTCTGAATCAAAATAAAGTTTTGTAAACTGGCCTAGCAATGAAGGCAGGGTGCCCTGTTATAAGCAGAACTAGTTTTACTGCTTACCAGGTGGTCCAATCAACTTCGAACCCGGTTTTCTCTTACCATGTAATGGAGAAAGTTTGCTCTTAGAATACAGTGGGATTATAAAAAGTGTCCCTGCAGAGTACATAATTGGTATCCCCTTAGTGGTAATTACCTTCTTCCTCTAGCTGTCCTTTGAAAGATAATATATCCCTTGCTATTTAATTTATTTGGTACTTAAAGTACAAATGGTTCCCAACTCAGAATGGTCCAACTTACAGCTTTATGATGATGCACTTCCATTATGTTCCTCAGCTTATGATGGGATTACATCCAGGTAAACCAATTGTTAACATGAGGAGCATCTGTGTAAGACTTTGTCTATAGGGTGAGATGAAAAGGGATTCTAAGCAAGTGACATGGAAGAAGATTCTAAGCAGGTAAAACTTCCTGGTTAGGGAATGGGAGTAATGTCGATAGGGAACAAGTTTAACAAAGGTTCTGTTTGCCACATGTTATTTTAGTAGCTCCTCACTTACCCTGTTTGTCTTGTGGTTTCTGTACATAGATATGGGCTGTCTATCAGTTCTACTGCTAATACAAAAATACATAGTACTGTGCTGTTAGTACTAATACTTCAGGAGCTGGGGTCTTGAGTCTTGTAATCTCAGGTGGTCAGGGATAAAGTCGCCAGTATTTTGGCCTGCACAGAGCTGGCCACCACTGAGACTGGGGGAGAAGGCGGAGTATAAGGAATACCGCAGGTCTGAGCCTGCCTAAGCTCTGAGATTCTGCCTTAATCAGGGGGTTTCTAGGTGCCTCTGACTTCTTCGAGCTTGTATTTTTGCAGGAGAATCTGAAATAGATACCAGCAGTCGAAATACCTGCCGGGATTTTGGTATTATTAATATTGTGGCAGAAGTGTGTATTGTATATGCTGTGGGAACAGAGCAAGAAGAAGCTGGGGAGCAATGTTTGGAAGTCATGAATGATTACTAAGTGACTTTGAGGAATGAATCATAATAATAATAGTTAGCATTTTTGTTTGCCAGACCCTGTTCTGTGTTTATTTTCTGCTTTAAGTGCTTATGATAACCCTATGAGGTGGATACCATCCTGATCTTGCAGATGAGGAAACTGAGGCACATTAATGTTAAAGTACTCGCCTAACATATCAGTACCAGTAAGTGATAGAGGAATGTTTCTGACTCTTATAGTAGGGCCAGAATCTAACCTCTACACTGACTTTGAAGAAGGAAAAGGACTTAAAATGTGATACATTTTACCAAGAAGGCATCACATGTGAAAGCACGTGTTGAATCTATTAATAAAATCCTGAGTTAGCAACCTCCAAGTATTTGGTACAGTTTAAGCACATGGTTGGGGGAGTGTTGGGCTATTTTCCTGAAAGGATGAAGATCTAACTAGATCCCTAGTTAGAGCAGAGTTTTAGAAACTTTAGCCTGGGACATTG
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ACAGGGAGATTGTCTGGGTAAAAGTTGGACGATACAGGTAAGCCTGAAGAATAGCACTCATCTCTTTTACCATCCTCTGTTTCTTGAGACCTCTCAGATACAATGCTTAACGTATTTCTAATGATCTACTTAATTACTCATGGTACTCCTCCCCTCTTCTTCTTGATTTTTTTCCTTATAGGAAGAGAAACCTAACTTTATGATTTACAATTATAGGAATAATACATGTTCTCTGTCGAAATTTTTTTTTCTTTTGTGTATTTTGTGAAAAGTTTTTTTTTTTTTTTTTAAATGAAAAGACAGTAATAATCTCACAAGGCAGGCGCATTGTTAACATTTCGGCATATGTACTCCCAGACGTACCAATACGCAGTTATGCCCCCCACCATCCAAAATAACTGTTTTTACAGATTATACTCTGTTATGTGTCTTGGGTTGTTTGTTTTGAGACAGGGTATCCTCTGTCACCCAGTCTGGAGTGCAGTGGTGTGATCATTGCTCACTGCAACTTCAAACTCCTGGGCTTAAGGGATCCTGCCGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGTACATGCCACTGCACCCGGCCACTTTTTCTTTTTTAAAATATTTTGATTGAACATCACACACCGGGAACTGTTGTGGGGTGGGGGGTGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTAAAAAATATATTTTGATTGAATATGGAAAGCACAAAGGATGTAACATGCATGACTTTAAAGAATGACAAAAGTGGCACCTGTGTATGTACCTCCCACTTAAAGAAATAGAACACTGTTGGTACTTTTGAGGTTTATTCCATGCCCTGATTCCATTCTCTCCTACCCCCAGAGGTAACCACTGTACTCAATTCTAGGTTTTTCATTCCTTCGCCCTTCTGTGAGAGTTTGTTTTCTTTGCTGTGTTTTAGACCTTTATGTAAAGGAATTATTGTTGATACATTTTCCTGCAACTTTTTTCATTCACTTTTATGCCCCTGAGATTCATCATAGTATTGTATAGTGGTTCATTCATAGTTCACTGTTCCTTTATGTAGTCACATAATGTCTAGTTCACTTATCCATTTTCCTGTTTGGACTGTGAACATTTGGTCAGTTTTTCTTGGTTTATATACTTGGGACCTTGAATATAAGTATATACTTATATACAAGTATATATTTGGTTTATATACTTAGGGCCTTCTCTAGGGCATTCTCTGGAGTAAAGTAGGTAGATAGAGGTTTCCAGCTTTAATAGGTAGTGCCAAATTGTCTCCCTAAAGTGGCTGTATAGTAATTTACATTCTTTGATTTTGTTTGTATGTGTTTGTGTTTTGATTTCTTGGTGCTGTTCTCCCATATTCCTACTAATTATTGAAGGTTTCCTTTTTAAAGACCAAATTGTATTTTATTTTGTATAGTGTACCATGGATAATACTATTATTTTCTTGATGTTGAGCATTTATACTTTTTCCAGTTTTTCCTTCTTATAATGCTTCAGTGAATGTTATTGTCATAACTCTCTGTTCCTATATCATTATTTCCTTTAAGTAGAATCCTTGAAGTAGAATAATTGAGTCTAAGGGAGTGCGCGCCTGTGTGGGAATGTGGGCAGATGTTTTCCAGCTTCTAGCACATACGACTTGTTTGTGTTCTAGTTAGGTTGTAAGAATGCCGTAAGATGGACTTTAATGTGGACAGACAGACATTGCTAATCCTTACTTTTATATGAGTAGGTTATTTTCCTAATGCCTTGCAGCCTTCTAGAGGTTTTCCTTCTCCTTTTCACCTTTCCCAGGTGGTGGCCAGCTGAGATCTGCCATCCTCGAGCTGTTCCTTCCAACATTGATAAGATGAGACATGATGTGGGAGAGTTCCCAGTCCTCTTTTTTGGATCTAATGACTATTTGTGGACTCACCAGGCCCAAGTCTTCCCTTACATGGAGGGTGACGTGAGCAGCAAGGATAAGATGGGCAAAGGAGTGGATGGGACATATAAAAAAGGTAACTTTATCCTTTTTGTTTCTCAGGCAAACACAGACCTCTGTTACCTGAGTGTCTGATCTGTTTTAGAATTCACATATGCTCCATTTTGAAACTGCCTTTGTCCTCTCAGGGCATTATCTGGCTGCAAATACAGTATTTTGCAAGGAAGTTGACCCATGTAACTCATTATTTTTGAGCCTTAACCTTTACTTAATTTGAATTTCCTTGAGCTTTTTTTTGACTTATCAGTTGTTTTGTCAGCATTCCATCAAATAATGGAGTTCTGAAACTATTTCATAGAAGAAACACTTCAGTTTGCTAGACAGAGGCTCAGATCTCTAGCAGAGCTACATTTGCTCCAAGGAGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGTCTTGAGCTCGTTGGGAAGAAGTAAAATTCACCAGATATTGTAGAACAAACTAGTAAAGGTCAAAGCATAAATGCTCTGAATCAAAATAAAGTTTTGTAAACTGGCCTAGCAATGAAGGCAGGGTGCCCTGTTATAAGCAGAACTAGTTTTACTGCTTACCAGGTGGTCCAATCAACTTCGAACCCGGTTTTCTCTTACCATGTAATGGAGAAAGTTTGCTCTTAGAATACAGTGGGATTATAAAAAGTGTCCCTGCAGAGTACATAATTGGTATCCCCTTAGTGGTAATTACCTTCTTCCTCTAGCTGTCCTTTGAAAGATAATATATCCCTTGCTATTTAATTTATTTGGTACTTAAAGTACAAATGGTTCCCAACTCAGAATGGTCCAACTTACAGCTTTATGATGATGCACTTCCATTATGTTCCTCAGCTTATGATGGGATTACATCCAGGTAAACCAATTGTTAACATGAGGAGCATCTGTGTAAGACTTTGTCTATAGGGTGAGATGAAAAGGGATTCTAAGCAAGTGACATGGAAGAAGATTCTAAGCAGGTAAAACTTCCTGGTTAGGGAATGGGAGTAATGTCGATAGGGAACAAGTTTAACAAAGGTTCTGTTTGCCACATGTTATTTTAGTAGCTCCTCACTTACCCTGTTTGTCTTGTGGTTTCTGTACATAGATATGGGCTGTCTATCAGTTCTACTGCTAATACAAAAATACATAGTACTGTGCTGTTAGTACTAATACTTCAGGAGCTGGGGTCTTGAGTCTTGTAATCTCAGGTGGTCAGGGATAAAGTCGCCAGTATTTTGGCCTGCACAGAGCTGGCCACCACTGAGACTGGGGGAGAAGGCGGAGTATAAGGAATACCGCAGGTCTGAGCCTGCCTAAGCTCTGAGATTCTGCCTTAATCAGGGGGTTTCTAGGTGCCTCTGACTTCTTCGAGCTTGTATTTTTGCAGGAGAATCTGAAATAGATACCAGCAGTCGAAATACCTGCCGGGATTTTGGTATTATTAATATTGTGGCAGAAGTGTGTATTGTATATGCTGTGGGAACAGAGCAAGAAGAAGCTGGGGAGCAATGTTTGGAAGTCATGAATGATTACTAAGTGACTTTGAGGAATGAATCATAATAATAATAGTTAGCATTTTTGTTTGCCAGACCCTGTTCTGTGTTTATTTTCTGCTTTAAGTGCTTATGATAACCCTATGAGGTGGATACCATCCTGATCTTGCAGATGAGGAAACTGAGGCACATTAATGTTAAAGTACTCGCCTAACATATCAGTACCAGTAAGTGATAGAGGAATGTTTCTGACTCTTATAGTAGGGCCAGAATCTAACCTCTACACTGACTTTGAAGAAGGAAAAGGACTTAAAATGTGATACATTTTACCAAGAAGGCATCACATGTGAAAGCACGTGTTGAATCTATTAATAAAATCCTGAGTTAGCAACCTCCAAGTATTTGGTACAGTTTAAGCACATGGTTGGGGGAGTGTTGGGCTATTTTCCTGAAAGGATGAAGATCTAACTAGATCCCTAGTTAGAGCAGAGTTTTAGAAACTTTAGCCTGGGACATTG
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Task1_train_9852
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Given a variant located on Chromosome 5 and affecting NSD1 (nuclear receptor binding SET domain protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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GGAATGAGTAATCTAGAATATTTGATATGAGAGAAACAATCATAAGGGCATTATATAAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCC
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GGAATGAGTAATCTAGAATATTTGATATGAGAGAAACAATCATAAGGGCATTATATAAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTACAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCC
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Task1_train_9853
|
A change on Chromosome 5 affects gene NSD1 (nuclear receptor binding SET domain protein 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Sotos syndrome
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ATAAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGT
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ATAAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAGCCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGT
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Task1_train_9854
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A mutation on Chromosome 5 affecting NSD1 (nuclear receptor binding SET domain protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Sotos syndrome
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AAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAG
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AAGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACTGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAG
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Task1_train_9855
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The gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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AGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGG
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AGAAAGGAAGAAAGAATTTAATATGTCTACCATGTTTAAGAGGCAGCTAGGTGCTGTACTATACATATATTTCTTATTCTTACAATAGTCTTGCAAGTAATTTATTCAAAATCACACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCTCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGG
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Task1_train_9856
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Chromosome 5 houses a mutation in gene NSD1 (nuclear receptor binding SET domain protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not provided
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CACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTAC
|
CACAGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCAGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTAC
|
Task1_train_9857
|
This alteration in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; not provided
|
AGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGG
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AGTTCCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGCTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGG
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Task1_train_9858
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A sequence alteration has been identified in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it disease-inducing or harmless?
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Pathogenic; Sotos syndrome
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CCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTA
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CCTGAACAGTCAAAATTTTTTGTGCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGCGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTA
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Task1_train_9859
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The gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Sotos syndrome
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GCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTAC
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GCGGTTTGTGTCTTAGAAGACTAAATTTGACTGTTCCCACTGAAATAATATGAAATGAGGGGAGATACATTCTCATGCACAAATCCATTATTGTACTGGAACATCTATTGTCTTTCCTTATTGTTGCTAGTATTTGTTAAAACCTCTACATTAATGGCTTTGGTGTCACAATAACTGTTTGACCTTCATGTTTTAACTCACCAAACTTTCACTGTGTTTTTGAGCACTAGCACCACTTCTAAATTAATCCATGAGTGACATTGCTATAGTCCTTTTAAAAGATTTTAAATTATAAGCTGGGTGTGGTGATACCTGCCTGTAGTCCCAACTACTTGTGAGGCTGATGCAGGAAGCATAGAGGAACTCAAATTACACACAGATGATTTCATGCCATTTATTTGCCACTTAAGAACAGTGCTTTTGCCAGGTGTGGTGGCTCACACCTATAATCCCAGCACTTTCAGAGACCGAGGCGGGCAGATCACCTGAGGTCAGGAGATCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACTCCATCTTTCCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGTGCCTATAGTCCCAGCTACCTGGGAGGCTGAGGCAGTAGAATGGCTAGAACCCAGGAGGCAGAGGTTGCAGTCAGCCAAGATCCCGCCACTGCACTGCAGCCTGGGCAACAGAGCTAGACTCCCTCTCAAAAAAAGGAAGGAAGAATAATGCCTATTTTTTTGTAGCAGCAAATGTGACACCAACATGTGGCAATAGCAGAAACCTAGTTTATAGTTCACCTGGCTTATCAGCTTTGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAGTCACGCGATCTCTGCAAGCTCCGCTGCCTCCCAGTTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGCGCGGCTGAAATTATTTTTTAAAATGAATTTCAAAAAAATTTTTAAAGTTCATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTTGTGACCGAGAGACCGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGACCTAGGCTCACTGCAAGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCTGTCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTACCTGGCTCGTATTTTATTTTTTTGAGATGGAATCTCAACATATCGGCCAGGCTGGAGTGCAGTGGTGAAATCTTGTCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTGTGGAGTTCATATTTTGTATGTCAAGTGAGGCTCTGTTTTTATATGAAACTAAGTGTTGATAGTTCAAAATCATGGGAAATGTGGCTGCAACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATACTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTAC
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Task1_train_9860
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Here is a variant affecting NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Sotos syndrome
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ACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGA
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ACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCAAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGA
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Task1_train_9861
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This alteration in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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ACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGA
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ACTTCAAGGAAAAAAAGTTTGCCTTTTTCAGGACGTGAATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCCAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGA
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Task1_train_9862
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Consider a variant on Chromosome 5 in gene NSD1 (nuclear receptor binding SET domain protein 1). Determine its clinical classification and disease relevance.
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Pathogenic; Sotos syndrome
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ATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCTCGCTTAGCTTGGCTCATTTCTTTTAGCACAG
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ATTGTCTTCTGCTGACTTGTTTTATGCGGTGTACTTTGTGTTACTTTTCCAGGTAAACCGTCCTATTGGCAGGGTACAGATCTTCACTGCAGACTTATCTGAAATACCCCGTTGCAACTGTAAAGCTACTGATGAGAACCCCTGTGGGATAGACTCTGAATGCATCAACCGCATGCTGCTCTATGAGTGCCACCCCACAGTGTGTCCTGCCGGAGGGCGCTGTCAAAACCAGTGCTTTTCCAAGCGCCAATATCCAGAGGTTGAAATTTTCCGCACATTACAGCGGGGTTGGGGTCTACGGACAAAAACAGATATTAAAAAGGTTAGAAAAAGCTAAATTACCATATACTTTCTCCTCTTTGCAGTTGCTTGATATCATTGATCCTTGACATTAGAAAATTCATCATAGAAGAAAATAACACAGTTAATAATTAACCTTATTGTTGTGTCTTGCCATATCCTTCTACCGTTTAGAGGCTTACGAATGGATGGTTTTGATCTCCCAAGTCCTTTGTATTGATCATGGTCACTGTGTAGGAGGTTGGAAAAAATGGGACATTCATAGAGATGCTATGGCTTTGTTTGCTTTTTTGTGAATATCCTACAGCTGGTAATTAAGAGAGATGACAGTGAGCACATGATACAGAGACATTGATCCACCTACTAATAAAACATTTTTAGTGAGGAAAAAACAGGTCTGGCTTCATGAAACATGAAGGATAAGAAGGTTAAGCCTTATTGGATGAAAATGCAGTCATGTCTTCAACTTAAAACTTGGCAGGATCTCTAAGTTTCTAATAAATAAATAATATTGTATAGTCTTTTTTTTTTTTTTAATAAAATAAGCCTTATTCTGGTTACATTTTCTGAAGAATTTTATTGGTTTCCAGGAAATGTAGTGTATATGGGTTGGCGTTTAGTCATTTGCTAAGTAGTTATTTTTATATTTACTGTATGTGCCAGGTATTGTGCTGGGGATGCACTAACCAAGACGAGAGATATGGCCTATACTTTCATAAAATTTACATTTCGGAGGGAGAGAAATATTGAACAAATCATCTCCCAGTGTGAAAGTATAAAGGGCTCTAGAGATGTGTGACAAAGGAACTGAAACTAGTTTGTCTCTGATGATATTATATTTTATTTTATTTATTTTTTGAGAGAGGGTCTCACTCTGTCGCCCAAACTGGAGCGCACTGGTGCCATCTCCGCTCACTGCAACCTTCAACTTCCAGGCTCAAGTGATCCTCCCATCTCAGCCTCCTGAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCCATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCTCGCTTAGCTTGGCTCATTTCTTTTAGCACAG
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Task1_train_9863
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A genetic alteration is present in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Sotos syndrome
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GAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCTCGCTTAGCTTGGCTCATTTCTTTTAGCACAGTGTCTTCGGAACATGGATGGTTTTAATGGAACAAATTTTCACATTCATATGAACTTACCACTAATAGGTTTGCTTTAGAAACTACTAGCTCTTCAGTCTCCTTTCTCACCTTCCTGAAGTTGCTCTTCTTCCACTTTATAAACCAAAGATTGATCTCTCACTCTTCCATATCTTATGGGTTATGGACCCAAGGCTATTTTAAAAATAAACCACTGGGTGTGGTGGTATATGCCTGTAGTCTCGGTTATTCAGGAGGCTGAGGCCAGAAATCGCTTGAGTTCAGGAGTTTGAGAAGCAGCCTGGGTAGTATCGTGAGAACTCTGACTCTTAAAAACACACACACAAAACAACAAAAACCTCTCAACCTCTAGGATGTCAAAGAACAGGATCTTTGGAGAATTCACTGCTCTGTCATGGCTCACCTGGGTGCTTGTCTCTCTAACGGGGTAGCGAGATGGTTGTAACCAGGACAAATAGTAAGAAGCTAATTTGAATCGAAAGTAAATCTGGTATGGCTGAGTGGTTTGACAGTAAAGTTATGTGGTAGATATTTTCCATAAATTAAAGGATCTTAATCTATAGCTTCAAGGTTTTGATACAATTATTTTAAACATATATACCTATGCATGTAACACCCTCCAAATTGCATGCTTTTTTAAGTATTAAAATTTGTGGCTGGGCGCGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAACACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCCGGACGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCAACAGAGGGAGATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAATTTGTATAAACGTTGTACATTTTGAAATGTACAAGAAAGTTATGATTTTTCAAATGTAGTTTTGCAAGGATATGAGCAAAACAGTTAAAATCAGCCTCTTATACTCAAACTGGGATAGAACTGGCCTAGGTAGTCTGTAATATACAGTAATATAGTCTAATTACTGTTGAAGCAGAATCCCATTTGAATGTTCTGGAAGACCTTAGTTCTCCTTTGCTCAGTCACTGTTGTCCTCAGGAAGCATTGATCAAGATAAAAGAATTAGAATGATATTTGTTCAGATCTT
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GAGTAGCAGGGACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTTGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCTCGCTTAGCTTGGCTCATTTCTTTTAGCACAGTGTCTTCGGAACATGGATGGTTTTAATGGAACAAATTTTCACATTCATATGAACTTACCACTAATAGGTTTGCTTTAGAAACTACTAGCTCTTCAGTCTCCTTTCTCACCTTCCTGAAGTTGCTCTTCTTCCACTTTATAAACCAAAGATTGATCTCTCACTCTTCCATATCTTATGGGTTATGGACCCAAGGCTATTTTAAAAATAAACCACTGGGTGTGGTGGTATATGCCTGTAGTCTCGGTTATTCAGGAGGCTGAGGCCAGAAATCGCTTGAGTTCAGGAGTTTGAGAAGCAGCCTGGGTAGTATCGTGAGAACTCTGACTCTTAAAAACACACACACAAAACAACAAAAACCTCTCAACCTCTAGGATGTCAAAGAACAGGATCTTTGGAGAATTCACTGCTCTGTCATGGCTCACCTGGGTGCTTGTCTCTCTAACGGGGTAGCGAGATGGTTGTAACCAGGACAAATAGTAAGAAGCTAATTTGAATCGAAAGTAAATCTGGTATGGCTGAGTGGTTTGACAGTAAAGTTATGTGGTAGATATTTTCCATAAATTAAAGGATCTTAATCTATAGCTTCAAGGTTTTGATACAATTATTTTAAACATATATACCTATGCATGTAACACCCTCCAAATTGCATGCTTTTTTAAGTATTAAAATTTGTGGCTGGGCGCGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAACACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCCGGACGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCAACAGAGGGAGATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAATTTGTATAAACGTTGTACATTTTGAAATGTACAAGAAAGTTATGATTTTTCAAATGTAGTTTTGCAAGGATATGAGCAAAACAGTTAAAATCAGCCTCTTATACTCAAACTGGGATAGAACTGGCCTAGGTAGTCTGTAATATACAGTAATATAGTCTAATTACTGTTGAAGCAGAATCCCATTTGAATGTTCTGGAAGACCTTAGTTCTCCTTTGCTCAGTCACTGTTGTCCTCAGGAAGCATTGATCAAGATAAAAGAATTAGAATGATATTTGTTCAGATCTT
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Task1_train_9864
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Gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Sotos syndrome
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GACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCTCGCTTAGCTTGGCTCATTTCTTTTAGCACAGTGTCTTCGGAACATGGATGGTTTTAATGGAACAAATTTTCACATTCATATGAACTTACCACTAATAGGTTTGCTTTAGAAACTACTAGCTCTTCAGTCTCCTTTCTCACCTTCCTGAAGTTGCTCTTCTTCCACTTTATAAACCAAAGATTGATCTCTCACTCTTCCATATCTTATGGGTTATGGACCCAAGGCTATTTTAAAAATAAACCACTGGGTGTGGTGGTATATGCCTGTAGTCTCGGTTATTCAGGAGGCTGAGGCCAGAAATCGCTTGAGTTCAGGAGTTTGAGAAGCAGCCTGGGTAGTATCGTGAGAACTCTGACTCTTAAAAACACACACACAAAACAACAAAAACCTCTCAACCTCTAGGATGTCAAAGAACAGGATCTTTGGAGAATTCACTGCTCTGTCATGGCTCACCTGGGTGCTTGTCTCTCTAACGGGGTAGCGAGATGGTTGTAACCAGGACAAATAGTAAGAAGCTAATTTGAATCGAAAGTAAATCTGGTATGGCTGAGTGGTTTGACAGTAAAGTTATGTGGTAGATATTTTCCATAAATTAAAGGATCTTAATCTATAGCTTCAAGGTTTTGATACAATTATTTTAAACATATATACCTATGCATGTAACACCCTCCAAATTGCATGCTTTTTTAAGTATTAAAATTTGTGGCTGGGCGCGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAACACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCCGGACGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCAACAGAGGGAGATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAATTTGTATAAACGTTGTACATTTTGAAATGTACAAGAAAGTTATGATTTTTCAAATGTAGTTTTGCAAGGATATGAGCAAAACAGTTAAAATCAGCCTCTTATACTCAAACTGGGATAGAACTGGCCTAGGTAGTCTGTAATATACAGTAATATAGTCTAATTACTGTTGAAGCAGAATCCCATTTGAATGTTCTGGAAGACCTTAGTTCTCCTTTGCTCAGTCACTGTTGTCCTCAGGAAGCATTGATCAAGATAAAAGAATTAGAATGATATTTGTTCAGATCTTAGTCTGTTTT
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GACTACAGGCTCGCATCACCACGCCTGGCTAATTTTTGTATTTTTTGTGGAGGTGAGGTCTAACCATGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAGTCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCTCGCTTAGCTTGGCTCATTTCTTTTAGCACAGTGTCTTCGGAACATGGATGGTTTTAATGGAACAAATTTTCACATTCATATGAACTTACCACTAATAGGTTTGCTTTAGAAACTACTAGCTCTTCAGTCTCCTTTCTCACCTTCCTGAAGTTGCTCTTCTTCCACTTTATAAACCAAAGATTGATCTCTCACTCTTCCATATCTTATGGGTTATGGACCCAAGGCTATTTTAAAAATAAACCACTGGGTGTGGTGGTATATGCCTGTAGTCTCGGTTATTCAGGAGGCTGAGGCCAGAAATCGCTTGAGTTCAGGAGTTTGAGAAGCAGCCTGGGTAGTATCGTGAGAACTCTGACTCTTAAAAACACACACACAAAACAACAAAAACCTCTCAACCTCTAGGATGTCAAAGAACAGGATCTTTGGAGAATTCACTGCTCTGTCATGGCTCACCTGGGTGCTTGTCTCTCTAACGGGGTAGCGAGATGGTTGTAACCAGGACAAATAGTAAGAAGCTAATTTGAATCGAAAGTAAATCTGGTATGGCTGAGTGGTTTGACAGTAAAGTTATGTGGTAGATATTTTCCATAAATTAAAGGATCTTAATCTATAGCTTCAAGGTTTTGATACAATTATTTTAAACATATATACCTATGCATGTAACACCCTCCAAATTGCATGCTTTTTTAAGTATTAAAATTTGTGGCTGGGCGCGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAACACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCCGGACGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCAACAGAGGGAGATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAATTTGTATAAACGTTGTACATTTTGAAATGTACAAGAAAGTTATGATTTTTCAAATGTAGTTTTGCAAGGATATGAGCAAAACAGTTAAAATCAGCCTCTTATACTCAAACTGGGATAGAACTGGCCTAGGTAGTCTGTAATATACAGTAATATAGTCTAATTACTGTTGAAGCAGAATCCCATTTGAATGTTCTGGAAGACCTTAGTTCTCCTTTGCTCAGTCACTGTTGTCCTCAGGAAGCATTGATCAAGATAAAAGAATTAGAATGATATTTGTTCAGATCTTAGTCTGTTTT
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Task1_train_9865
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This alteration in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Sotos syndrome
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TGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCTTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCTCGCTTAGCTTGGCTCATTTCTTTTAGCACAGTGTCTTCGGAACATGGATGGTTTTAATGGAACAAATTTTCACATTCATATGAACTTACCACTAATAGGTTTGCTTTAGAAACTACTAGCTCTTCAGTCTCCTTTCTCACCTTCCTGAAGTTGCTCTTCTTCCACTTTATAAACCAAAGATTGATCTCTCACTCTTCCATATCTTATGGGTTATGGACCCAAGGCTATTTTAAAAATAAACCACTGGGTGTGGTGGTATATGCCTGTAGTCTCGGTTATTCAGGAGGCTGAGGCCAGAAATCGCTTGAGTTCAGGAGTTTGAGAAGCAGCCTGGGTAGTATCGTGAGAACTCTGACTCTTAAAAACACACACACAAAACAACAAAAACCTCTCAACCTCTAGGATGTCAAAGAACAGGATCTTTGGAGAATTCACTGCTCTGTCATGGCTCACCTGGGTGCTTGTCTCTCTAACGGGGTAGCGAGATGGTTGTAACCAGGACAAATAGTAAGAAGCTAATTTGAATCGAAAGTAAATCTGGTATGGCTGAGTGGTTTGACAGTAAAGTTATGTGGTAGATATTTTCCATAAATTAAAGGATCTTAATCTATAGCTTCAAGGTTTTGATACAATTATTTTAAACATATATACCTATGCATGTAACACCCTCCAAATTGCATGCTTTTTTAAGTATTAAAATTTGTGGCTGGGCGCGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAACACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCCGGACGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCAACAGAGGGAGATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAATTTGTATAAACGTTGTACATTTTGAAATGTACAAGAAAGTTATGATTTTTCAAATGTAGTTTTGCAAGGATATGAGCAAAACAGTTAAAATCAGCCTCTTATACTCAAACTGGGATAGAACTGGCCTAGGTAGTCTGTAATATACAGTAATATAGTCTAATTACTGTTGAAGCAGAATCCCATTTGAATGTTCTGGAAGACCTTAGTTCTCCTTTGCTCAGTCACTGTTGTCCTCAGGAAGCATTGATCAAGATAAAAGAATTAGAATGATATTTGTTCAGATCTTAGTCTGTTTTTGTGTGTGTTTGTTTGCTTGCTTGTTTGTTGAAACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTG
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TGTTGCCCAGGCTGGACTTAAACTCCTGGGCTCAAATTATCCTCCCAGAGTGTTGGGTTTACAGGCATGAGCCATCACTCTTGACTTGTGAGGCTATTTTAAATTGAGACTTGAAATATAAGTAGCTGTTGACCCAGGCAAGGTGCATTAAAGCCCTGCAGGTTAGGAGTGAACACGTGTGAAAAGCCAGAGTGACTGTAGCATAATGAATAGGGAGGATGGTACTTTGAAATATAGAGCAGAGCAAGCACCAAGGAAGATGAACATAGTTTATTTGGGGAAGCCAATTCTCGGGCTCTGGGGCAGGTAGAGATTGGCCATCCATCTCTCTTTATAAGGACGCTCTAGTTTACTTACTAATCTTCCATTCTGGAGGATCTTTAGTATCCAGTGTATCCTAATCTTTCTGCTGCTGACAGTGGTAGGAGTAAGGAGGTGTTTCTCATTATCAAATAGTTGGGGATCGTAAAGTAATTATGTGTGCCTAAAATTATACTCATGTAATCTGCTTTGTAGAATGTGATGTTTTCATTAATTTTTTAAAAAAATGTATACATTTGGATACCAGTGTCCTTTTTTGCCATTAAGTCAGGAGGTATTTCTTGTTCTAGGGTGAATTTGTGAATGAGTATGTGGGTGAGCTTATAGATGAAGAAGAATGCAGAGCTCGAATTCGCTATGCTCAAGAACATGATATCACTAATTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAATGCTGTTTTCACTGTTACAAGATTGTAAATTTGTGTTGTCCCAGCCATAGTATTTGTAGGCATGTAACGCAGTTCCCAAGGTAGGGTCTTTTCCCATACCCATTGGGATTGCTGGATTGGGGTTCTGGAGTAGGTAAGAGTGCTCATTTTCTGGGTATTCATGGCCAGAGGCAATACAGCAGCTTTTAGCATTGTTTTTGAACAATTCAATGAAAATTGGAGCTTATATCTTTGAGTATTTTTTCTACAGGATTACAAGTTTGAACTCAGAAAAGTACATAATTCTTTTTTATTTTATTTTACAGTTGAGAAAATTGTTAAATATTTAATTATTTTACTGATAAGATTATGTAAATTTTTTTTTAAAATTATTTTGAGACAGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGACTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTTAGTTTTTATAATAAAACCCTTTCTTGGTATTTACCTTTGTAAACATTTCTCAAATTGTGCACTAGGATTTGTGAGATCTTCACTTCCAGATATTCTGATCTTACTTTGGGATTGGGACTCCGCATTAGTATTTAAATCTCCTTAGGTGATTTCTAATGTGCATCTGGGTTGAAACTACCTAAATAGAAAGTGGGACAAGCTGCTATTTGTAGGGCAGTGGTCCTCAAACTTCAATGTAGTCAGAAACCCCTGGCAGCCTTGTTATATATAACGCAGAATGCTGCACCCCACAGTCTCTGCTTTAGTGTATTTGAAGCACAACCCAGGAATTTGCATGTCTAACAAATTGCCAAATGGTGATGGTGCTGGTCCAGGGATCACACTTTGAGAACCAAAGTTCTTTGGGATCTTTTCTCTGAGAGGTTCAGTCTTTACAAATAGAAACTCCAACTTATTAGAGAGAATAGTCAAATTTTAATCCACAGCAGAGGTCTCAGGAAGTCTGATGTGTAGCTTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCCAAAGGAAACTATGCTCGGTTCATGAATCATTGCTGCCAGCCCAACTGTGAAACACAGAAGTGGTCTGTGAATGGAGATACCCGTGTAGGCCGTTTTGCACTAAGTGACATTAAAGCAGGTAAGAATCATTTCAGGATTCTGCAGCTGACATCTGAATTTCAGGGCTTTTGTTTTTTACAAACAGCTTCCTCAGATTATAATTTTAAACATTTCTATATGTACCGTTCTCTGGAATTAAGTTCATTTACATTTTTGTGCAACCATCACCACCATCCGTCTCCAGAACTCTTTTCATCTTCCCCTGCTAAAACTCTATACCTACTAAACACTAAGTCCCCATTCTTCTTTTTCTTCACAGCCCCTGGCAACTACCATTCTACTTTCTGTCTCTGAATTTGACTACTATATGTACTTCATATAAATGGACAATATTTGTCCTTTTCTGACCACCTCATTTCATTCATTCATTGATTCATTTTTAATGTTTAGGGACAGAGCATTGCTCTGTTGCCCAGGCTGCACTACAGTGGCACCATCACAGTTCACTGCAGCCTCAAACTGGGCTCAAGCAATCCTGCTGCCTCAGCCTCCTGAGTAGCTAGGGCTATAGGCACATGTCCCCATTCCCAGGTTTTTTGTTTTTTGTTTTTTTTTTGTAGAGACGGAGTCTTGCCGCTATGTTGCCAAGGCTGGTCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCTCGCTTAGCTTGGCTCATTTCTTTTAGCACAGTGTCTTCGGAACATGGATGGTTTTAATGGAACAAATTTTCACATTCATATGAACTTACCACTAATAGGTTTGCTTTAGAAACTACTAGCTCTTCAGTCTCCTTTCTCACCTTCCTGAAGTTGCTCTTCTTCCACTTTATAAACCAAAGATTGATCTCTCACTCTTCCATATCTTATGGGTTATGGACCCAAGGCTATTTTAAAAATAAACCACTGGGTGTGGTGGTATATGCCTGTAGTCTCGGTTATTCAGGAGGCTGAGGCCAGAAATCGCTTGAGTTCAGGAGTTTGAGAAGCAGCCTGGGTAGTATCGTGAGAACTCTGACTCTTAAAAACACACACACAAAACAACAAAAACCTCTCAACCTCTAGGATGTCAAAGAACAGGATCTTTGGAGAATTCACTGCTCTGTCATGGCTCACCTGGGTGCTTGTCTCTCTAACGGGGTAGCGAGATGGTTGTAACCAGGACAAATAGTAAGAAGCTAATTTGAATCGAAAGTAAATCTGGTATGGCTGAGTGGTTTGACAGTAAAGTTATGTGGTAGATATTTTCCATAAATTAAAGGATCTTAATCTATAGCTTCAAGGTTTTGATACAATTATTTTAAACATATATACCTATGCATGTAACACCCTCCAAATTGCATGCTTTTTTAAGTATTAAAATTTGTGGCTGGGCGCGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAACACGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAAATACAAAAAAATTAGCCGGACGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGTAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCAACAGAGGGAGATTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAATTTGTATAAACGTTGTACATTTTGAAATGTACAAGAAAGTTATGATTTTTCAAATGTAGTTTTGCAAGGATATGAGCAAAACAGTTAAAATCAGCCTCTTATACTCAAACTGGGATAGAACTGGCCTAGGTAGTCTGTAATATACAGTAATATAGTCTAATTACTGTTGAAGCAGAATCCCATTTGAATGTTCTGGAAGACCTTAGTTCTCCTTTGCTCAGTCACTGTTGTCCTCAGGAAGCATTGATCAAGATAAAAGAATTAGAATGATATTTGTTCAGATCTTAGTCTGTTTTTGTGTGTGTTTGTTTGCTTGCTTGTTTGTTGAAACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTG
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Task1_train_9866
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The gene NSD1 (nuclear receptor binding SET domain protein 1) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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GATGCCCTCCTCTGCCATGTCTAGCCACAAATTTCTCTTCTTTTTTTCCTGTGTTCATCAGCTCAGGTAGCTTGGTGTTGAAATTCTCAGACTCTTCCTCTCCTCACTTGACTTTCAGTCTGCATAGGTTCAGGATGGGGAAAATGAGACAGGATGTGCTAAGGGACAGGCAGAGTGCCTATCAGAGCTGAGGCCTTCATTCAACTTCCTGGGCCCTTCACATACCTGCAACTTACTGTCTCCCAAGTGTCCCATCCCTACTCTTGTTTATCTCTTCTCTCATGCTCTTTGCCATGCCCAGTAACTGAAGATCCATCAATGATTGCTGCATATTGAACTCTTTTCTAGAATGGTATCACTGTTTAGTTTATGAGCACTGATACTTTCTGATTTAATTTAGCCTCTCTGTGATTACACTTACATAGTATATGTTCAGTGAGCAGCAAGTTATGACAAGTATCCTGCTTTCTTTTATTTGTGTATAAGGTACAGTTGTATTATAAGCACATCGTATCTATAAAATTTTAGTTATCTATCCATAAATCTTTTATTAAGAAAAAGACAGTGTGGGGCTGGGCGCAGTGGCTCACGCCTATAATCCCAACACTTTGGGAGGCCAAGGTGGGAGGATCACTTCAGGAGTTTGAGACCAGCATGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAAACTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATAGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGGGATCTCACCACCTTACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGAAAGAAAAAGAAAAAAGAAAAAAAAACAGTGTGAATAGAACCACGAAAGATTCAATCCAGTTAAGTTCAGGCATGAGATGGGAAACATGACCCTCCCGTTAACATTGGTGAGTCTCACTCAGTTCCTGCAAGCTCCTTATGGCATGAGCCTCATCAGGCCGTGGATAATTCTGCTACTCCTACAGCATGACCCTAACGTAGCTGCTGGTATTGTGAACATACTTGATAAAGAAATAGTGATAAGAATGATTTCCTTTAACATTCGATGAAAAACTATGTATAGCAGTCTCACTGATAAAAGGTATGTCAGTCTGCAAAGGGAAATCTTCCTAAGAATTGACAGTTTTTAATATGAATGATGGTTACCTTATACATTAACTGTAAACATTACCCCTGTGATAGGCAACCTCTTCACATATTTATGTAAAATTCTTATATTTGGTAGGCCTCCCATAACTGGCTTTTAGTTATGAGTTTTGAGTTTGAATGTTTATTTCCTCTCACAGTTTTGGTGAAATGGACCTTTGACAGAAAGAGAGAAAGAGGACAGTTTGCCTGTTAATTTGAGTACCTTTTTTTAAAGTTTACACGTTACTGCTATGTGCATTTTGTCATATTGTCTCAATAAGCTTGTCAGATTTCTCCATTTTAAAATGGGCTGCTCAGGATTCAGATTACCCTGCTAAGTCTGTGACGTAGCTGGATCTACAACCAGTCTGTAATCTACAGATTTCTAGTGTTATTCTGTACTGAGATGCCTCTCCAGAGTGCTGCCAGGTAACATGTGTTCACCTGAGAACAGACAAACAGGTTTTCCTCATACTTGTATTCCCAGGGCCTGACACATTGATAAGTTGTTTTTTGTTTGTTTTGGTAATGAATTAACATATTTTGAATCTGAATGGTTAATAAACAAATGAAAAACAACTTGAGGTAATTAACACCTCTGGAGGAAGAGTTATCTTAAATATTACTTGTTAAGCCATTTAAGTTTTCTCTGTTAAATTGTATTACCTGATTATTAATGTTATAAGATTAGAATTAATTAAAATATAGGATTAGAGCTAAATTCTTTTTAAAATTAATCTGTTCTCTTGGGAGTTGGTATCCTTTGTAATTAATACAGAAATAATGTAATTAAAACCATAGATATTAATATTTTCACGGTCTCTTATGCAGGCACTGAACTTACCTTCAACTACAACCTAGAATGTCTTGGGAATGGAAAGACTGTTTGCAAATGTGGAGCCCCGAACTGCAGTGGCTTCTTGGGTGTAAGGCCAAAGGTACCACCCTTCTAGACTTCTGCTTTGGGATTAGTGGTGCGGTCCTCCCTCCCTAACAGTGTTAGGGCAGTCTACATTTTAAGAAGAAATCTCTTTGAAATTAATGACATTCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTAATAAGAATAGAAAAATTAGCTGGGCCGTGGTGGCATGTGCTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATCACACCACTGCACTCTAGCCTGGGCAACACAGCAAGACTCCTTCTCAAAAAAAAAAAGAAAAATTCAATGACATTGAATAGGTGTTGATAGGGCCACTTGCAATTCACTAAGCATTCGGCTGATCAATTATATAAGAGGTTTTTGGGGATATTGTTGAAGTGTTTTGGGCCATCTGACTTTAATTGGTGCTACTTTTCTAACTAATAATGCTGTGAAATAGGACCTTATAAAGAAGGTTAGTTACCTCCCTCGTCTTGATCTCACATCTCCTAATAAGCCATATAGATTCTTGGTATATCTGTGTCTGTCCCTGTCTTTCTCTCACTTTCTCTTTCTGAAGATACCAAAAAATCTGCAGTTTAAGCTTCTAAATGTAGCATAACATCATAGATAAAAGTAGAACTCTTAATCTCACCATTATAAAAAAGTATAAGCATTGTTGTGTCTTCCTGTTTTTTTAGTATGCACTTTCTGAATAATTGAATTCTAATTCTGTAACTGTTAAGTATCATTTCCATGTCTATATTCTCCTTATTTTTTTTGTTGTTGTTGTTTTGTGTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTATATTTTTAGTAGAAACAGGGTTTCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTA
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GATGCCCTCCTCTGCCATGTCTAGCCACAAATTTCTCTTCTTTTTTTCCTGTGTTCATCAGCTCAGGTAGCTTGGTGTTGAAATTCTCAGACTCTTCCTCTCCTCACTTGACTTTCAGTCTGCATAGGTTCAGGATGGGGAAAATGAGACAGGATGTGCTAAGGGACAGGCAGAGTGCCTATCAGAGCTGAGGCCTTCATTCAACTTCCTGGGCCCTTCACATACCTGCAACTTACTGTCTCCCAAGTGTCCCATCCCTACTCTTGTTTATCTCTTCTCTCATGCTCTTTGCCATGCCCAGTAACTGAAGATCCATCAATGATTGCTGCATATTGAACTCTTTTCTAGAATGGTATCACTGTTTAGTTTATGAGCACTGATACTTTCTGATTTAATTTAGCCTCTCTGTGATTACACTTACATAGTATATGTTCAGTGAGCAGCAAGTTATGACAAGTATCCTGCTTTCTTTTATTTGTGTATAAGGTACAGTTGTATTATAAGCACATCGTATCTATAAAATTTTAGTTATCTATCCATAAATCTTTTATTAAGAAAAAGACAGTGTGGGGCTGGGCGCAGTGGCTCACGCCTATAATCCCAACACTTTGGGAGGCCAAGGTGGGAGGATCACTTCAGGAGTTTGAGACCAGCATGGCTAACATGGTGAAACACCGTCTCTACTAAAAATACAAAAACTAGCTGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATAGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGGGATCTCACCACCTTACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAGAAAGAAAAAGAAAAAAGAAAAAAAAACAGTGTGAATAGAACCACGAAAGATTCAATCCAGTTAAGTTCAGGCATGAGATGGGAAACATGACCCTCCCGTTAACATTGGTGAGTCTCACTCAGTTCCTGCAAGCTCCTTATGGCATGAGCCTCATCAGGCCGTGGATAATTCTGCTACTCCTACAGCATGACCCTAACGTAGCTGCTGGTATTGTGAACATACTTGATAAAGAAATAGTGATAAGAATGATTTCCTTTAACATTCGATGAAAAACTATGTATAGCAGTCTCACTGATAAAAGGTATGTCAGTCTGCAAAGGGAAATCTTCCTAAGAATTGACAGTTTTTAATATGAATGATGGTTACCTTATACATTAACTGTAAACATTACCCCTGTGATAGGCAACCTCTTCACATATTTATGTAAAATTCTTATATTTGGTAGGCCTCCCATAACTGGCTTTTAGTTATGAGTTTTGAGTTTGAATGTTTATTTCCTCTCACAGTTTTGGTGAAATGGACCTTTGACAGAAAGAGAGAAAGAGGACAGTTTGCCTGTTAATTTGAGTACCTTTTTTTAAAGTTTACACGTTACTGCTATGTGCATTTTGTCATATTGTCTCAATAAGCTTGTCAGATTTCTCCATTTTAAAATGGGCTGCTCAGGATTCAGATTACCCTGCTAAGTCTGTGACGTAGCTGGATCTACAACCAGTCTGTAATCTACAGATTTCTAGTGTTATTCTGTACTGAGATGCCTCTCCAGAGTGCTGCCAGGTAACATGTGTTCACCTGAGAACAGACAAACAGGTTTTCCTCATACTTGTATTCCCAGGGCCTGACACATTGATAAGTTGTTTTTTGTTTGTTTTGGTAATGAATTAACATATTTTGAATCTGAATGGTTAATAAACAAATGAAAAACAACTTGAGGTAATTAACACCTCTGGAGGAAGAGTTATCTTAAATATTACTTGTTAAGCCATTTAAGTTTTCTCTGTTAAATTGTATTACCTGATTATTAATGTTATAAGATTAGAATTAATTAAAATATAGGATTAGAGCTAAATTCTTTTTAAAATTAATCTGTTCTCTTGGGAGTTGGTATCCTTTGTAATTAATACAGAAATAATGTAATTAAAACCATAGATATTAATATTTTCACGGTCTCTTATGCAGGCACTGAACTTACCTTCAGCTACAACCTAGAATGTCTTGGGAATGGAAAGACTGTTTGCAAATGTGGAGCCCCGAACTGCAGTGGCTTCTTGGGTGTAAGGCCAAAGGTACCACCCTTCTAGACTTCTGCTTTGGGATTAGTGGTGCGGTCCTCCCTCCCTAACAGTGTTAGGGCAGTCTACATTTTAAGAAGAAATCTCTTTGAAATTAATGACATTCAGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTAATAAGAATAGAAAAATTAGCTGGGCCGTGGTGGCATGTGCTTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATCACACCACTGCACTCTAGCCTGGGCAACACAGCAAGACTCCTTCTCAAAAAAAAAAAGAAAAATTCAATGACATTGAATAGGTGTTGATAGGGCCACTTGCAATTCACTAAGCATTCGGCTGATCAATTATATAAGAGGTTTTTGGGGATATTGTTGAAGTGTTTTGGGCCATCTGACTTTAATTGGTGCTACTTTTCTAACTAATAATGCTGTGAAATAGGACCTTATAAAGAAGGTTAGTTACCTCCCTCGTCTTGATCTCACATCTCCTAATAAGCCATATAGATTCTTGGTATATCTGTGTCTGTCCCTGTCTTTCTCTCACTTTCTCTTTCTGAAGATACCAAAAAATCTGCAGTTTAAGCTTCTAAATGTAGCATAACATCATAGATAAAAGTAGAACTCTTAATCTCACCATTATAAAAAAGTATAAGCATTGTTGTGTCTTCCTGTTTTTTTAGTATGCACTTTCTGAATAATTGAATTCTAATTCTGTAACTGTTAAGTATCATTTCCATGTCTATATTCTCCTTATTTTTTTTGTTGTTGTTGTTTTGTGTTTTTTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTATATTTTTAGTAGAAACAGGGTTTCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTA
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Task1_train_9867
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This sequence variant lies in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Sotos syndrome
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TCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTACTTAATGGTATTAAGTGTAGTGCGGATGTCAGTTTCAGCATCCTTGATGTCTGCATGGGATAGCATTTCACAGGAGTCAGTCAGAGGTAGATGCTAGAGAGGTCACTGTGTGCTCTTAGTAGATACTGGTCTGTCAGAATAGGGTGGACCTCCATTAAGCCTTACAGATTGGTCCTGGATGTTTCTGGGTTAAAATGAAGAATGTGATAAGATGATTTGGTGACCAAGTGTGGGCTGCAGGGAACAAAGAGAGAACATCTGCTGGCTGCTCCAGGGTCTGCCTTGGGAGTGGTGGACCTGAAGCTAATTTGACTTGATGTGTAGTCTTATTGACGGCAGGGACCATGAATTAACTTTTTTGTGTCTTAACACATTGCTTATAGTAAGTTCAGTTATGCTTTGTTGAATGAACGAGAAATAGGCATGTGTACCCACACACAGAAGTCTAGTTTAGTTCTGAAAGTAGACGAATATAAAAGTGAAACTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAAGCGGGTGGGTCACAAGGTCAGGAGTTCGAGACCAGCTTAACCAATATGCTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGCAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTTGAAAAATAAATAAATTAATTAACTAATAAAACTTATGAAAGGCATGTCATTTAACACCAGCCTTATGGATCAGCAAAAACACAAAGATTTTTGTCTTCTGTTTTGTTCAGGTGGCAGGAGTAGTTGATACAAAAATTATTGCTACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGT
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TCACTGTTGTTAGCCAGGTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTACTTAATGGTATTAAGTGTAGTGCGGATGTCAGTTTCAGCATCCTTGATGTCTGCATGGGATAGCATTTCACAGGAGTCAGTCAGAGGTAGATGCTAGAGAGGTCACTGTGTGCTCTTAGTAGATACTGGTCTGTCAGAATAGGGTGGACCTCCATTAAGCCTTACAGATTGGTCCTGGATGTTTCTGGGTTAAAATGAAGAATGTGATAAGATGATTTGGTGACCAAGTGTGGGCTGCAGGGAACAAAGAGAGAACATCTGCTGGCTGCTCCAGGGTCTGCCTTGGGAGTGGTGGACCTGAAGCTAATTTGACTTGATGTGTAGTCTTATTGACGGCAGGGACCATGAATTAACTTTTTTGTGTCTTAACACATTGCTTATAGTAAGTTCAGTTATGCTTTGTTGAATGAACGAGAAATAGGCATGTGTACCCACACACAGAAGTCTAGTTTAGTTCTGAAAGTAGACGAATATAAAAGTGAAACTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAAGCGGGTGGGTCACAAGGTCAGGAGTTCGAGACCAGCTTAACCAATATGCTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGCAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTTGAAAAATAAATAAATTAATTAACTAATAAAACTTATGAAAGGCATGTCATTTAACACCAGCCTTATGGATCAGCAAAAACACAAAGATTTTTGTCTTCTGTTTTGTTCAGGTGGCAGGAGTAGTTGATACAAAAATTATTGCTACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGTTGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGT
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Task1_train_9868
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The gene NSD1 (nuclear receptor binding SET domain protein 1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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ACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTACTTAATGGTATTAAGTGTAGTGCGGATGTCAGTTTCAGCATCCTTGATGTCTGCATGGGATAGCATTTCACAGGAGTCAGTCAGAGGTAGATGCTAGAGAGGTCACTGTGTGCTCTTAGTAGATACTGGTCTGTCAGAATAGGGTGGACCTCCATTAAGCCTTACAGATTGGTCCTGGATGTTTCTGGGTTAAAATGAAGAATGTGATAAGATGATTTGGTGACCAAGTGTGGGCTGCAGGGAACAAAGAGAGAACATCTGCTGGCTGCTCCAGGGTCTGCCTTGGGAGTGGTGGACCTGAAGCTAATTTGACTTGATGTGTAGTCTTATTGACGGCAGGGACCATGAATTAACTTTTTTGTGTCTTAACACATTGCTTATAGTAAGTTCAGTTATGCTTTGTTGAATGAACGAGAAATAGGCATGTGTACCCACACACAGAAGTCTAGTTTAGTTCTGAAAGTAGACGAATATAAAAGTGAAACTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAAGCGGGTGGGTCACAAGGTCAGGAGTTCGAGACCAGCTTAACCAATATGCTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGCAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTTGAAAAATAAATAAATTAATTAACTAATAAAACTTATGAAAGGCATGTCATTTAACACCAGCCTTATGGATCAGCAAAAACACAAAGATTTTTGTCTTCTGTTTTGTTCAGGTGGCAGGAGTAGTTGATACAAAAATTATTGCTACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTG
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ACCTCGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTACTTAATGGTATTAAGTGTAGTGCGGATGTCAGTTTCAGCATCCTTGATGTCTGCATGGGATAGCATTTCACAGGAGTCAGTCAGAGGTAGATGCTAGAGAGGTCACTGTGTGCTCTTAGTAGATACTGGTCTGTCAGAATAGGGTGGACCTCCATTAAGCCTTACAGATTGGTCCTGGATGTTTCTGGGTTAAAATGAAGAATGTGATAAGATGATTTGGTGACCAAGTGTGGGCTGCAGGGAACAAAGAGAGAACATCTGCTGGCTGCTCCAGGGTCTGCCTTGGGAGTGGTGGACCTGAAGCTAATTTGACTTGATGTGTAGTCTTATTGACGGCAGGGACCATGAATTAACTTTTTTGTGTCTTAACACATTGCTTATAGTAAGTTCAGTTATGCTTTGTTGAATGAACGAGAAATAGGCATGTGTACCCACACACAGAAGTCTAGTTTAGTTCTGAAAGTAGACGAATATAAAAGTGAAACTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAAGCGGGTGGGTCACAAGGTCAGGAGTTCGAGACCAGCTTAACCAATATGCTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGCAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTTGAAAAATAAATAAATTAATTAACTAATAAAACTTATGAAAGGCATGTCATTTAACACCAGCCTTATGGATCAGCAAAAACACAAAGATTTTTGTCTTCTGTTTTGTTCAGGTGGCAGGAGTAGTTGATACAAAAATTATTGCTACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCAGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTG
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Task1_train_9869
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Here’s a variant in NSD1 (nuclear receptor binding SET domain protein 1) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Sotos syndrome
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CCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTACTTAATGGTATTAAGTGTAGTGCGGATGTCAGTTTCAGCATCCTTGATGTCTGCATGGGATAGCATTTCACAGGAGTCAGTCAGAGGTAGATGCTAGAGAGGTCACTGTGTGCTCTTAGTAGATACTGGTCTGTCAGAATAGGGTGGACCTCCATTAAGCCTTACAGATTGGTCCTGGATGTTTCTGGGTTAAAATGAAGAATGTGATAAGATGATTTGGTGACCAAGTGTGGGCTGCAGGGAACAAAGAGAGAACATCTGCTGGCTGCTCCAGGGTCTGCCTTGGGAGTGGTGGACCTGAAGCTAATTTGACTTGATGTGTAGTCTTATTGACGGCAGGGACCATGAATTAACTTTTTTGTGTCTTAACACATTGCTTATAGTAAGTTCAGTTATGCTTTGTTGAATGAACGAGAAATAGGCATGTGTACCCACACACAGAAGTCTAGTTTAGTTCTGAAAGTAGACGAATATAAAAGTGAAACTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAAGCGGGTGGGTCACAAGGTCAGGAGTTCGAGACCAGCTTAACCAATATGCTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGCAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTTGAAAAATAAATAAATTAATTAACTAATAAAACTTATGAAAGGCATGTCATTTAACACCAGCCTTATGGATCAGCAAAAACACAAAGATTTTTGTCTTCTGTTTTGTTCAGGTGGCAGGAGTAGTTGATACAAAAATTATTGCTACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGC
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CCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTACTTAATGGTATTAAGTGTAGTGCGGATGTCAGTTTCAGCATCCTTGATGTCTGCATGGGATAGCATTTCACAGGAGTCAGTCAGAGGTAGATGCTAGAGAGGTCACTGTGTGCTCTTAGTAGATACTGGTCTGTCAGAATAGGGTGGACCTCCATTAAGCCTTACAGATTGGTCCTGGATGTTTCTGGGTTAAAATGAAGAATGTGATAAGATGATTTGGTGACCAAGTGTGGGCTGCAGGGAACAAAGAGAGAACATCTGCTGGCTGCTCCAGGGTCTGCCTTGGGAGTGGTGGACCTGAAGCTAATTTGACTTGATGTGTAGTCTTATTGACGGCAGGGACCATGAATTAACTTTTTTGTGTCTTAACACATTGCTTATAGTAAGTTCAGTTATGCTTTGTTGAATGAACGAGAAATAGGCATGTGTACCCACACACAGAAGTCTAGTTTAGTTCTGAAAGTAGACGAATATAAAAGTGAAACTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAAGCGGGTGGGTCACAAGGTCAGGAGTTCGAGACCAGCTTAACCAATATGCTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGCAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTTGAAAAATAAATAAATTAATTAACTAATAAAACTTATGAAAGGCATGTCATTTAACACCAGCCTTATGGATCAGCAAAAACACAAAGATTTTTGTCTTCTGTTTTGTTCAGGTGGCAGGAGTAGTTGATACAAAAATTATTGCTACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCAGGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGC
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Task1_train_9870
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Gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
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TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTACTTAATGGTATTAAGTGTAGTGCGGATGTCAGTTTCAGCATCCTTGATGTCTGCATGGGATAGCATTTCACAGGAGTCAGTCAGAGGTAGATGCTAGAGAGGTCACTGTGTGCTCTTAGTAGATACTGGTCTGTCAGAATAGGGTGGACCTCCATTAAGCCTTACAGATTGGTCCTGGATGTTTCTGGGTTAAAATGAAGAATGTGATAAGATGATTTGGTGACCAAGTGTGGGCTGCAGGGAACAAAGAGAGAACATCTGCTGGCTGCTCCAGGGTCTGCCTTGGGAGTGGTGGACCTGAAGCTAATTTGACTTGATGTGTAGTCTTATTGACGGCAGGGACCATGAATTAACTTTTTTGTGTCTTAACACATTGCTTATAGTAAGTTCAGTTATGCTTTGTTGAATGAACGAGAAATAGGCATGTGTACCCACACACAGAAGTCTAGTTTAGTTCTGAAAGTAGACGAATATAAAAGTGAAACTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAAGCGGGTGGGTCACAAGGTCAGGAGTTCGAGACCAGCTTAACCAATATGCTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGCAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTTGAAAAATAAATAAATTAATTAACTAATAAAACTTATGAAAGGCATGTCATTTAACACCAGCCTTATGGATCAGCAAAAACACAAAGATTTTTGTCTTCTGTTTTGTTCAGGTGGCAGGAGTAGTTGATACAAAAATTATTGCTACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAG
|
TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCTTATATTATTATTTTTTAAAGTCCTTGCTGATCATTTTTAGTGACTGTCTTAATTTTTTTATATAATGGATGGACATACTAGATGAACATCTGGATAATTCAAGATTTCTGTATCATAAGTAACAGCACAGTGAAAATTGCAGTTTAATTTTGATACAAAATAAACTATATAGTGACTTCAATTGAGTATGTTCCATATGCCTTTTTGATTGTGAAGCTCAACATTAAGAACTGAAAAATGCAAATTAACATAGAAGCCAATAAGAAAAGAGTAAATAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAATGGTATGATCTCGGCTCACTGTAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCCCCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGATGGGGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAGAAATGAAGAGCACTCAATGATCATTTTTTAATCTTGTTAAATAAGGAGAATCACCTCTATATTATACTGGATTTTATTGTGCTTTTTGTTTAGTTTTGTTGGTTTAACGGTGTTGTTCCTTAAGATGTTGACTTGTTTCCTATAAATTAAAATAGTAACTCAGTTTAACCTGTACTTAATGGTATTAAGTGTAGTGCGGATGTCAGTTTCAGCATCCTTGATGTCTGCATGGGATAGCATTTCACAGGAGTCAGTCAGAGGTAGATGCTAGAGAGGTCACTGTGTGCTCTTAGTAGATACTGGTCTGTCAGAATAGGGTGGACCTCCATTAAGCCTTACAGATTGGTCCTGGATGTTTCTGGGTTAAAATGAAGAATGTGATAAGATGATTTGGTGACCAAGTGTGGGCTGCAGGGAACAAAGAGAGAACATCTGCTGGCTGCTCCAGGGTCTGCCTTGGGAGTGGTGGACCTGAAGCTAATTTGACTTGATGTGTAGTCTTATTGACGGCAGGGACCATGAATTAACTTTTTTGTGTCTTAACACATTGCTTATAGTAAGTTCAGTTATGCTTTGTTGAATGAACGAGAAATAGGCATGTGTACCCACACACAGAAGTCTAGTTTAGTTCTGAAAGTAGACGAATATAAAAGTGAAACTTTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAAGCGGGTGGGTCACAAGGTCAGGAGTTCGAGACCAGCTTAACCAATATGCTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGCAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACACAGCAAGACTCCGTCTTGAAAAATAAATAAATTAATTAACTAATAAAACTTATGAAAGGCATGTCATTTAACACCAGCCTTATGGATCAGCAAAAACACAAAGATTTTTGTCTTCTGTTTTGTTCAGGTGGCAGGAGTAGTTGATACAAAAATTATTGCTACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTATCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAG
|
Task1_train_9871
|
The gene NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; not provided
|
TACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCA
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TACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAAAGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCA
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Task1_train_9872
|
This variant lies on Chromosome 5 and affects the gene NSD1 (nuclear receptor binding SET domain protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Sotos syndrome
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ACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAG
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ACGTATCTGTGATGTACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATATCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAG
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Task1_train_9873
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Here is a variant affecting NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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TACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGA
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TACCAGGTACCTTTCCTGCATTTTATCTTCATGACAATCTCTTTTCCCAGAGAAGAGAATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGCGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGA
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Task1_train_9874
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The gene NSD1 (nuclear receptor binding SET domain protein 1) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Sotos syndrome
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ATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCC
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ATGAGGCTCAGAGAGGGTAGTTAACCCGGTTAAGATTGGTACTAATGTGTTCACAGAATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTCTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCC
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Task1_train_9875
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Mutation context: Chromosome 5, Gene NSD1 (nuclear receptor binding SET domain protein 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Sotos syndrome
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AATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCCTGTGAGCCTGGATTCCAAGGCTTTCAGGAACCTTTGACCAGGAAGTAACAGGAAGT
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AATGCTGACTGTTCAATATCTGACCTGTAGAATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTAGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCCTGTGAGCCTGGATTCCAAGGCTTTCAGGAACCTTTGACCAGGAAGTAACAGGAAGT
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Task1_train_9876
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The gene NSD1 (nuclear receptor binding SET domain protein 1), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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AATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCCTGTGAGCCTGGATTCCAAGGCTTTCAGGAACCTTTGACCAGGAAGTAACAGGAAGTTCTGAGGGGCCCTGGGGCTTTAGACTCATT
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AATCAACCCATTGCCACGGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATTCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCCTGTGAGCCTGGATTCCAAGGCTTTCAGGAACCTTTGACCAGGAAGTAACAGGAAGTTCTGAGGGGCCCTGGGGCTTTAGACTCATT
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Task1_train_9877
|
Chromosome 5 houses a mutation in gene NSD1 (nuclear receptor binding SET domain protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Sotos syndrome
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GGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCCTGTGAGCCTGGATTCCAAGGCTTTCAGGAACCTTTGACCAGGAAGTAACAGGAAGTTCTGAGGGGCCCTGGGGCTTTAGACTCATTTTGAAATGTCCTTTGTG
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GGAAGAAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGATATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCCTGTGAGCCTGGATTCCAAGGCTTTCAGGAACCTTTGACCAGGAAGTAACAGGAAGTTCTGAGGGGCCCTGGGGCTTTAGACTCATTTTGAAATGTCCTTTGTG
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Task1_train_9878
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Here is a mutation in NSD1 (nuclear receptor binding SET domain protein 1) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Sotos syndrome
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AAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCGTGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCCTGTGAGCCTGGATTCCAAGGCTTTCAGGAACCTTTGACCAGGAAGTAACAGGAAGTTCTGAGGGGCCCTGGGGCTTTAGACTCATTTTGAAATGTCCTTTGTGGCACC
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AAAAGTCAAAGAAATTCAAGAAGAAGCAACAGGGAAAGCGCAGGACCCAGGGTGAAATCACAAAGGAGCGAGAAGATGAGTGTTTTAGTTGTGGGGATGCTGGCCAGCTCGTCTCCTGCAAGAAACCAGGCTGCCCAAAAGTTTACCACGCAGACTGTCTCAATCTGACCAAGCGACCAGCAGGTTGGTGCCAAAATCCATTTGTACCGCTACTCGTTCTCTCCATCATACTCAGGGTCTCATGCCATTTGCATCAGCCTTGAAGAAAGTGCCATTTGGTCTTTCCATGCATAATTTTGAGGGGTATGGTCTATTTTCTTATTTTGGAAATAATGAAAGCAAAGGCTTAGAATTCTTAGTTATGAAGAATGGGACAGCGGTGCACTTGCTGTGTTTCAGGTCCTTTACTTACAGTCATGTTTATTTCATTCCCCCAGCAGCCCATAATGGTTGGTTTTCTTCCATAATGCATGTGAAGAAACAGAGTGAGGATTGGGGAGGTGATCTTTCACACATAGATAGAGGAGCTGGATTGAGAGCTGGGTTTTTGACTCCAAGACTATTAAATCATGTTGCCTTTCTAGAGAAAGAAAGATTGAGATAGTAAAGCCTTTAGGTGGTTCTAGTCAGTGAGAGATGGATTGCCACCCTTTTAGCACTTCCTACCTTGCTCCCCTACGCCTAGTGCAGTCTCCCCCCATGCAGAGTAGACTTTTTTCCTCTAAAGGAGATTTGGTTGTATCAGTTAATACATGAGAAAGCTGCTCAGGTGGATGTGGTACCCAGGAAATTTGTAGTTGAAGAAATTGAGAACCTTTGAGTAGTGATTTGGGGTTAGAGAATTTTAGGGATTTGGATATGCCATCTATTTTAATGAACAAAAAAGAGAAACCAGTAGGGAGCCATTCCAGGGTGAGGAGATTATACATTACTAGTGACCTGCTTCCAAGAGTTGCAGAACGTTAAGAACTTTAGGGTATAAGTAAAAGGAATTTGTCCCCAAATTGGCTTTCCTTCACTGTATATTGGCCAGGGTCATGAAATAAAAGAAACTGAGGTAGGATGAGGGCAAGGCCATCACATTGACCTGTCAGCACCAGGAAGTAGAATTGTTTCAGAATCAACTGCTCAGGGTCGTCACTGGCGCAGGCTATGATAGAACCAATCTTGCCTGTGTGCCAGGAGTGGGAGCTGGTGTAGTTGATTTGAAGGTGGAAACACTGTCCCTGGTCAAGACCCTCAGGTTTCATGAAATGTGGGGAGGCAGGTAAAAGCTTAGGTCAGCTTTGGGTCTTTTCTACTGATTCCATGTGAACAACATATAACGTGCTGTGCTGATCTCAAGACTTAAAATAGAGCAAAGGTAAATCTTCCATTTTTCATGATTTTATATCTTTTCTATTACTGTTAATAGCAAATAAGCAGGAATCTAAATCACCAGGATATTTCTCTTTGAGTTGCTTATTTAAAAGCTGTATAGTACAAATGGAGATTGCAAAAATATAAAAGTAATATCTTAAGTTTCATGTAAAAGAAACTTTTTGTTGTCCCCACCCCCGCCCCCCCCTCACCTCCTTGCTGGAAATAGTCATAGAAATACCAATTTACTCTTCTGCTTGTATATTTAGTTGATAGTAGTTGCTATTTGATAATTCGCTGTTACTTTATGTATTCTGTGCACAAAAAGAAGCTGGAATTCTGGGGCAAGAGGTGGCTGGTGAGTGGCATAAGCTCTCTGAAGCAGGGACAGTGTGAAGGAAGGTCATCATCCACACCTTCGGACTGTAGCATAGCCTTGGCCCATGTGATATGTATCTCTTTTTTCCTAAACTTTTGATTTACTTCTGTGTTTTCAGGGAAATGGGAATGTCCGTGGCATCAGTGTGACATCTGCGGGAAGGAAGCAGCCTCCTTCTGTGAGATGTGCCCCAGCTCCTTTTGTAAGCAGCATCGAGAAGGGATGCTTTTCATTTCCAAACTGGATGGGCGTCTGTCTTGTACTGAGCATGACCCCTGTGGGCCCAATCCTCTGGAACCTGGGGAGATCCATGAGTATGTGCCTCCCCCAGTACCGCTGCCTCCAGGGCCAAGCACTCACCTGGCAGAGCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCAGATGCTGTCGCTCTCCAAAAAAGCTCTGGCAGGGACTTGTCAGAGGCCATTGCTACCTGAAAGACCTCTTGAGAGAACTGACTCCAGGCCCCAGCCTTTAGATAAGGTCAGAGACCTCGCTGGGTCAGGGACCAAATCCCAATCCTTGGTTTCCAGCCAGAGGCCACTGGACAGGCCACCAGCAGTGGCAGGACCAAGACCCCAGCTAAGCGACAAACCCTCTCCAGTGACCAGCCCAAGCTCCTCACCCTCAGTCAGGTCCCAACCACTGGAAAGACCTCTGGGGACGGCTGACCCAAGGCTGGATAAATCCATAGGTGCTGCCAGCCCAAGGCCCCAGTCACTGGAGAAAACCTCAGTTCCCACTGGCCTGAGACTTCCGCCGCCAGACAGACTGCTCATTACTAGCAGTCCCAAACCCCAGACTTCAGACAGGCCTACTGACAAACCCCATGCCTCTTTGTCCCAGAGACTCCCACCTCCTGAGAAAGTACTATCAGCTGTGGTCCAGACCCTTGTAGCTAAAGAAAAAGCACTGAGGCCTGTGGACCAGAATACTCAGTCAAAAAATAGAGCTGCTTTGGTGATGGATCTCATAGACCTAACTCCTCGCCAGAAGGAGCGGGCAGCTTCACCTCATCAGGTCACACCACAGGCTGATGAGAAGATGCCAGTGTTGGAGTCAAGTTCATGGCCTGCCAGCAAAGGTCTGGGGCATATGCCGAGAGCTGTTGAGAAAGGCTGTGTGTCAGATCCTCTTCAGACATCTGGGAAAGCAGCAGCCCCTTCAGAGGACCCCTGGCAAGCTGTTAAATCACTCACCCAGGCCAGACTTCTTTCTCAGCCTCCTGCCAAGGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAGCTTCTGCAGGGGCTGAGCAGACCCCAGGGCCTCTTAGCCAATCCCCGGGCCTGGTGAAGCAGGCGAAGCAGATGGTCGGAGGCCAGCAACTACCTGCACTTGCCGCCAAGAGTGGGCAATCTTTTAGGTCTCTCGGGAAGGCCCCAGCCTCCCTCCCCACTGAAGAAAAGAAGTTGGTAACCACAGAGCAAAGTCCCTGGGCCCTGGGAAAAGCCTCATCACGGGCAGGGCTCTGGCCCATAGTGGCTGGACAGACACTGGCACAGTCTTGCTGGTCTGCTGGGAGCACACAGACATTGGCACAGACTTGCTGGTCTCTTGGAAGAGGGCAAGACCCCAAACCAGAGCAAAATACACTTCCAGCTCTTAACCAGGCTCCTTCCAGTCACAAGTGTGCAGAATCAGAACAGAAGTAGTACCAATCAATGTCACATGAACAAACAAGCTGCCCCCAGGGTACCATTTGGGGAGGGGAAATCTTTTCTTTCTTTCCCCCTTAAAAAAAAACACATCTGCCCCGAACACTTTCCCACTGTTATTCTTTCCTCATATCCCAACACTCAGAACTCTTGTGACATTAGCCAGTGGGGGCTTATGGTTGTGTGAACCATGTATGAAAATCCAGTGGGCCCCAACCAAGGAGACAGACAGACTTGGGTCTCTTTCCCCCAACTTTTCCACATGGTCATCGTGAAATAAAAAGTCCACTCTGGAGTCAAGTATGGAATTCAATTCCGCTGGTCAGGTTGGAAGGTATAGGGGCTCTCAAAGCGATTTCCCCAACCAGACAGAGCCCCATTGAGGGCACCTAGGAACCCTTGGGAGGAAATGGTGTTCTTTCAAATCAGTGGCGATTTCCTGAGCATTCACGTGTTCTAGGCCGGGTGCTAGTCACTGATGAGAGATACAGGCCTCATCCCTGTGAGCCTGGATTCCAAGGCTTTCAGGAACCTTTGACCAGGAAGTAACAGGAAGTTCTGAGGGGCCCTGGGGCTTTAGACTCATTTTGAAATGTCCTTTGTGGCACC
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Task1_train_9879
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This variant affects the gene SLC34A1 (solute carrier family 34 member 1) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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CTTCATTGAGCTGCTGAGCAGAAGCTGAAACACAGAATTCTAAGGTGAGCCCAGGACCCTCACATCCCAACCCCACCCCCAGCTCTGAGTAGGAAACAGCCCAGCACCCCAGCCCCTTCATCTGTGTCCTATCTGCGCCCACCCCCACCGCGCCCCATATAACATGTCAGTCCAGCCAATCGCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAAGCCGAGTGGGCGGATCACCTGAGGTCGAGTTTGCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGGTAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGACTCCTGCTCCTTCAGGACTTGAATTCAACTCTTCACACCCCTACAACAGCCAAGGACGCTGGGACAATGCGGGGAGTGCTGAGGCAGATCAGGGCACTCCACCCCAATAGCCAAGACTCCTGGGGCAGTGCGGGGACAAGGGGGGGCTGAGGCAAGCCTGTCAGTGTTTGTTCATTGCCCCTTGAGGGGGTGGATGGGGAAAGGAATTCATTGTGAGGGGAACCCAGGAACTCGGGATCCGGCCCAGGGGATCTCCGTGTGTGCCCAGCTGACCCCATGAGAAGGCAGGTGTCTGCAGCTCCTCCTTGCTCTCCAGGTGGGCAAAACTGAAGCCCGGCCCAGCCCCAGCCCACACCTGCAGCCACTGCCAACACCACGTATTCCCTGGCCCCCTCCAGCCCCAAACAGGCTGGGCGTCCTCAGTTCTCAGTGTCTTTTATCAATGCTATATCCAAGCCTCTGGTTCGGAGCCTGGGCTAGAGCTCAATAATACTCATTGAATGAGTGAATGGTGAATGAATGATCACCTCACCACCACCACACACACCCCTCCGAGACTCACATGCAGGTGCCCAGCACAGATGTGCACATGTGAGTCTGCATGTGAGTCTCGGAGGGCTGTGGTGGTGATGATGGAGGGTGTGGTTTGCTGGGTGTGTGTTTGTGCGTGTGAGTCTCGGAGGGGTGTGTGTGTGTGGTGAGGATGGAGGGTGTGCTTTGCTAGGTGTGTATTTGGAATCATGCGCCATGGGGGTTTGTGCAGGTGAGGGTGTGTGGGCATGAGTGTCCCGGACACAGCTATTGTCATTCAGCGTTGCTGAGACCCACTGACCTGCAGACCTCATAGTGGGTGCCCAGGATGTTGTCCTACGGAGAGAGGCTGGGGTCCCCTGCTGTCTCCCCACTCCCAGTCCGTGGGGGGCATGTGATGCGAGGGACGGCCTTTGCCTACGTGCCCAGCCCTCAGGGTAAGTGCTGCTCCCACACCCTGGACCCTGGTTGCCCACGGTTGCCCACATCCCGGATGAGGCCACTTCCCCCGCCTGTTCCTCCCCGCCTCCCCACTTTGGGGCCCTGGGGCTCCTGACCAGGCTCCCTCCCTAGTCCTACACAGGATCCCGGGGACCTCTGCCTATGCCTTCCCCAGCCTGGGCCCTGTGGCCCTTGCTGAGCACACCTGCCCCTGTGGGGAGGTCCTGGAGCGCCATGAACCACTGCCTGCCAAGCTGGCCCTGGAGGAGGAGCAGAAGCCAGGTGGGCCTGGGCTGGGGGTGGCAGAGGCGGCAGCAGTCCCTGCCCTGGCCTCTGCCCACTATGCTCATGGCTTCCCCCATCCAGAGTCCAGGCTGGTCCCCAAGCTGCGCCAGGCTGGCGCCATGCTGCTCAAGGTGCCACTGATGCTCACCTTCCTCTACCTCTTCGTCTGCTCCCTGGACATGCTCAGCTCGGCCTTCCAGCTGGCTGGAGGTAGGGCCCGGGTGGAGGAGACCTGGGAGGGGTTCCTGAAGGGCCTTGGACAACGCTGGCTCATGCTCCCCAGGGAAGGTGGCTGGTGACATCTTCAAGGATAACGCCATCCTGTCCAACCCGGTGGCCGGGCTGGTGGTGGGGATCCTGGTGACCGTGCTGGTGCAGAGCTCCAGCACCTCCACATCCATCATCGTCAGCATGGTCTCCTCTGGCTGTGAGTTGGCCCACCAGGGTGGGGAAGAGCTTGGAGGGGCACCCCAGGAGCTGGGAAGGGTGGCAAATGGGGAGCGTGACCCCAGTAAGGCTGGCCTCCATTCAGCTTGACTCCTGTATCAGCCAGGGACATGAGAGGAGCCCAACTGTAGCTGTATGTGACCCAGATGATTTATGGCAAGGAACTGGCTTCCCCGATGGTAGTTTGTCTGGGCAAGTCAGGAATCCGTAGGCCAGGGCATTGGAAGGGCAGGCGGGAACTCTCAGGTGGGCGCCGACACTGCAGTCCAGACAGGGCAGCGTTTCTCCTTTCTCAGGGAAGCCTCAGTTCTGCTTGAGGCCTTTCATTCTATTGGATTAGGCTGACCCAGGTTACCAAGGATAATCTCCTTTTCTTAAAGTCAGCTGACTGTAGACGTGAATTGCATCTACAAAACACCTTACAGAACACCCAGGCTAGTGTTGGGTTGAATAACTGGGTACCACAGCCTAGCTAAGTTGACACATAAAACTAACCATCACTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCAGATCACGAGGTCAGTAGATCGAGACCACCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAACAACAAAAACCAAAAAGCATTAGCCAGGCGTGGTGGCAGGTGTCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAACAAACAAACAAAAAAACTAACCATCACACTCTGGGGCATGTGTGCACACACAAGCACAAATCTCTATTTGCACATAGGACATGAGCCCACGAGCCCTCATAACGAAGGCCTCACACGCACACACGTTCACATCCATACACCATGTGCAGCACGTGTACATCTACTCGCATGGATGAATGCACACACCTGTAAACGCACAGCCCGTGCCCACATGCACCTGTGACGCCAACGTTAGGCAGACTCAGCAGCATGGCAGGAGCGGCCACTGGGGACTGGGACGTGGGTGGGGGGCCTGACAGGAGTTGTGGTGGTGCAGGAGCTGGGTGACCGTCAAATTCATTAGGACGTCTTCTCTTCTACCAGTGCTGGAGGTGAGCTCTGCCATCCCCATCATCATGGGCTCCAACATCGGCACCTCTGTCACCAACACCATCGTGGCCCTGATGCAGGCGGGGGACAGGACTGACTTCCGGCGGTGAGGGGGGCTGGGGGTTGGGGGCTCGTGCCTGGGGGAGGACAGCCCCAGATGCCAGGAACCCCAGGCGTGACTGTGCACTGGCTCGAGCCTGCCTTGCAATGTGGCCTCCCTGCCCAGGGCCTTCGCGGGGGCCACGGTGCATGACTGCTTTAACTGGCTGTCAGTGCTGGTCCTGCTGCCCCTGGAGGCTGCCACTGGCTACCTGCACCACATCACTCGACTTGTGGTGGCCTCCTTCAACATCCATGGTGGCCGTGATGCTCCTGACCTGCTCAAGATCATCACAGAGCCCTTCACGAAGCTCATCATCCAGGTGACAGCAGGGCCTGGCATGGGGTGAGGGTGGGGGTAACAAGGGACCCAGCCTCCTTCACTCCCCCTGCCCACATCTTGCCCACAGCTGGACGAGTCTGTGATAACCAGCATTGCCACTGGTGATGAGTCCCTGAGGAACCACAGTCTCATCCAGATCTGGTGCCACCCAGACTCCTTACAGGTGAGTCCCAGGCCTAACCCCAGGTAAGAGGACTCCCTCTTCAGACTCTTGGTTTCATTGTCTGTTCAAAATGCTCCAGATAGACCTTGAAGATCATTTAGCCAGGAGAGGGCAAATATGTGGCCCTTCTACTGTGCTTACAGTTAACATTGCTAATTCCTCCCAAC
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CTTCATTGAGCTGCTGAGCAGAAGCTGAAACACAGAATTCTAAGGTGAGCCCAGGACCCTCACATCCCAACCCCACCCCCAGCTCTGAGTAGGAAACAGCCCAGCACCCCAGCCCCTTCATCTGTGTCCTATCTGCGCCCACCCCCACCGCGCCCCATATAACATGTCAGTCCAGCCAATCGCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGGAAGCCGAGTGGGCGGATCACCTGAGGTCGAGTTTGCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGGTAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAGGACTCCTGCTCCTTCAGGACTTGAATTCAACTCTTCACACCCCTACAACAGCCAAGGACGCTGGGACAATGCGGGGAGTGCTGAGGCAGATCAGGGCACTCCACCCCAATAGCCAAGACTCCTGGGGCAGTGCGGGGACAAGGGGGGGCTGAGGCAAGCCTGTCAGTGTTTGTTCATTGCCCCTTGAGGGGGTGGATGGGGAAAGGAATTCATTGTGAGGGGAACCCAGGAACTCGGGATCCGGCCCAGGGGATCTCCGTGTGTGCCCAGCTGACCCCATGAGAAGGCAGGTGTCTGCAGCTCCTCCTTGCTCTCCAGGTGGGCAAAACTGAAGCCCGGCCCAGCCCCAGCCCACACCTGCAGCCACTGCCAACACCACGTATTCCCTGGCCCCCTCCAGCCCCAAACAGGCTGGGCGTCCTCAGTTCTCAGTGTCTTTTATCAATGCTATATCCAAGCCTCTGGTTCGGAGCCTGGGCTAGAGCTCAATAATACTCATTGAATGAGTGAATGGTGAATGAATGATCACCTCACCACCACCACACACACCCCTCCGAGACTCACATGCAGGTGCCCAGCACAGATGTGCACATGTGAGTCTGCATGTGAGTCTCGGAGGGCTGTGGTGGTGATGATGGAGGGTGTGGTTTGCTGGGTGTGTGTTTGTGCGTGTGAGTCTCGGAGGGGTGTGTGTGTGTGGTGAGGATGGAGGGTGTGCTTTGCTAGGTGTGTATTTGGAATCATGCGCCATGGGGGTTTGTGCAGGTGAGGGTGTGTGGGCATGAGTGTCCCGGACACAGCTATTGTCATTCAGCGTTGCTGAGACCCACTGACCTGCAGACCTCATAGTGGGTGCCCAGGATGTTGTCCTACGGAGAGAGGCTGGGGTCCCCTGCTGTCTCCCCACTCCCAGTCCGTGGGGGGCATGTGATGCGAGGGACGGCCTTTGCCTACGTGCCCAGCCCTCAGGGTAAGTGCTGCTCCCACACCCTGGACCCTGGTTGCCCACGGTTGCCCACATCCCGGATGAGGCCACTTCCCCCGCCTGTTCCTCCCCGCCTCCCCACTTTGGGGCCCTGGGGCTCCTGACCAGGCTCCCTCCCTAGTCCTACACAGGATCCCGGGGACCTCTGCCTATGCCTTCCCCAGCCTGGGCCCTGTGGCCCTTGCTGAGCACACCTGCCCCTGTGGGGAGGTCCTGGAGCGCCATGAACCACTGCCTGCCAAGCTGGCCCTGGAGGAGGAGCAGAAGCCAGGTGGGCCTGGGCTGGGGGTGGCAGAGGCGGCAGCAGTCCCTGCCCTGGCCTCTGCCCACTATGCTCATGGCTTCCCCCATCCAGAGTCCAGGCTGGTCCCCAAGCTGCGCCAGGCTGGCGCCATGCTGCTCAAGGTGCCACTGATGCTCACCTTCCTCTACCTCTTCGTCTGCTCCCTGGACATGCTCAGCTCGGCCTTCCAGCTGGCTGGAGGTAGGGCCCGGGTGGAGGAGACCTGGGAGGGGTTCCTGAAGGGCCTTGGACAACGCTGGCTCATGCTCCCCAGGGAAGGTGGCTGGTGACATCTTCAAGGATAACGCCATCCTGTCCAACCCGGTGGCCGGGCTGGTGGTGGCGATCCTGGTGACCGTGCTGGTGCAGAGCTCCAGCACCTCCACATCCATCATCGTCAGCATGGTCTCCTCTGGCTGTGAGTTGGCCCACCAGGGTGGGGAAGAGCTTGGAGGGGCACCCCAGGAGCTGGGAAGGGTGGCAAATGGGGAGCGTGACCCCAGTAAGGCTGGCCTCCATTCAGCTTGACTCCTGTATCAGCCAGGGACATGAGAGGAGCCCAACTGTAGCTGTATGTGACCCAGATGATTTATGGCAAGGAACTGGCTTCCCCGATGGTAGTTTGTCTGGGCAAGTCAGGAATCCGTAGGCCAGGGCATTGGAAGGGCAGGCGGGAACTCTCAGGTGGGCGCCGACACTGCAGTCCAGACAGGGCAGCGTTTCTCCTTTCTCAGGGAAGCCTCAGTTCTGCTTGAGGCCTTTCATTCTATTGGATTAGGCTGACCCAGGTTACCAAGGATAATCTCCTTTTCTTAAAGTCAGCTGACTGTAGACGTGAATTGCATCTACAAAACACCTTACAGAACACCCAGGCTAGTGTTGGGTTGAATAACTGGGTACCACAGCCTAGCTAAGTTGACACATAAAACTAACCATCACTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCAGATCACGAGGTCAGTAGATCGAGACCACCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAACAACAAAAACCAAAAAGCATTAGCCAGGCGTGGTGGCAGGTGTCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAACAAACAAACAAAAAAACTAACCATCACACTCTGGGGCATGTGTGCACACACAAGCACAAATCTCTATTTGCACATAGGACATGAGCCCACGAGCCCTCATAACGAAGGCCTCACACGCACACACGTTCACATCCATACACCATGTGCAGCACGTGTACATCTACTCGCATGGATGAATGCACACACCTGTAAACGCACAGCCCGTGCCCACATGCACCTGTGACGCCAACGTTAGGCAGACTCAGCAGCATGGCAGGAGCGGCCACTGGGGACTGGGACGTGGGTGGGGGGCCTGACAGGAGTTGTGGTGGTGCAGGAGCTGGGTGACCGTCAAATTCATTAGGACGTCTTCTCTTCTACCAGTGCTGGAGGTGAGCTCTGCCATCCCCATCATCATGGGCTCCAACATCGGCACCTCTGTCACCAACACCATCGTGGCCCTGATGCAGGCGGGGGACAGGACTGACTTCCGGCGGTGAGGGGGGCTGGGGGTTGGGGGCTCGTGCCTGGGGGAGGACAGCCCCAGATGCCAGGAACCCCAGGCGTGACTGTGCACTGGCTCGAGCCTGCCTTGCAATGTGGCCTCCCTGCCCAGGGCCTTCGCGGGGGCCACGGTGCATGACTGCTTTAACTGGCTGTCAGTGCTGGTCCTGCTGCCCCTGGAGGCTGCCACTGGCTACCTGCACCACATCACTCGACTTGTGGTGGCCTCCTTCAACATCCATGGTGGCCGTGATGCTCCTGACCTGCTCAAGATCATCACAGAGCCCTTCACGAAGCTCATCATCCAGGTGACAGCAGGGCCTGGCATGGGGTGAGGGTGGGGGTAACAAGGGACCCAGCCTCCTTCACTCCCCCTGCCCACATCTTGCCCACAGCTGGACGAGTCTGTGATAACCAGCATTGCCACTGGTGATGAGTCCCTGAGGAACCACAGTCTCATCCAGATCTGGTGCCACCCAGACTCCTTACAGGTGAGTCCCAGGCCTAACCCCAGGTAAGAGGACTCCCTCTTCAGACTCTTGGTTTCATTGTCTGTTCAAAATGCTCCAGATAGACCTTGAAGATCATTTAGCCAGGAGAGGGCAAATATGTGGCCCTTCTACTGTGCTTACAGTTAACATTGCTAATTCCTCCCAAC
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Task1_train_9880
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A variant on Chromosome 5 in gene SLC34A1 (solute carrier family 34 member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Hypercalcemia, infantile, 2
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AGAGGGTCACTCCATATCAGAAGACAGTTTACCGAAGGCTCATGATGAGCCAAGCCCTGTGATGAGCGCTTTAAACACATTCCCCCTGTAACCTTTACAGCAGCTCCTCTATTATCCTGCGTTAGAGAAAACAGGCTCTGAGAGGTGGCATGGCTTACCCAGGGTGGTTGGTATAAGAAGCAGGATTTGAACTCAGATCTGCCTAACAGCAAACACCTGGCTCTCTCTCTCCCTTACCCTCGCAGCAGTTACCGTTGCTTTCCCAGCCTGGTTTTCTCATCTAGCCCATCGCAGCCTATTTTTTCCAGGCTTCTTGGCCTGCCATTCAGGCCCAGTCTTGATGGGTCCCCAAGGCCCTGATGTGGCGAACTGGGAGCACAGAAGAGCACATTGCCCCATTCAAGGGAGCACATCCCGCTAAAATAAACCCGGATGTTACACCAGACGCCATAAAAGTTCTTACCTTGGCCAGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGGGCCTGTAACCCTAGCTACTCGGGAGGTGGAAGCGGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGGACTCCAGACTGGGCAACAGAACAAAAACTCTGTCTCAAAATAAATAAATAAATAAATAAATAACTTCTTAACCCAACAAGGCTACAAATGAGTTGTCCACAGGCCAGACTGGCCTGCTTCTGCTGACCTTCATTGAATTGTAAAAGATAACTCAAAGTGGTCGCCAATATTTACAGATTGGGAGTTTGTTGCTTTCGGGAGTTTTTCATTTTTTGAGATAAGGTCTTGCTCTGTCACTCAAGCTGGAGTGCAGGGGCATGATCATAGCTCACTCCAGCCTCGACCACCTGGGCTCAAGAGATCCTCCTGCTCCAACCTCCTGAGTAGCTAGGACTACAGGTGTACACCACCATGCCCTAATTTTCTTTGTGGAGACAAGGTCTTGCTATGTTGCCCAAGATGGCCTCCCACTCCTGGCCTCGAGTAATCCTCTCACCTCAGCCCCCCAAAGTGCTGGGATTACAGCCATGAGCCACACTGCACCTGGCCCAGATTGGGAGATTTCATCTAGAACTTCAGAGTTGTGGCTTTTCTCATAGAAATTGGGCAATTTAGCCACACTAGGCTGCGTCCCTGGATGGTGACAGTGATCAGGAGCTGAGTAGCTACTGCTGACTCTACAGGCCCAGCAGAAACTCTCCCCACCTCTTCCACACACAGCCCGAGCTGCTCACTTAGGTTACCGGCCCGGACCTGTGGCCTTCTGAATTGTAGGGCCTCCCTGGGGAGCCCCTTTGTCTCACTGACAGTAGGTGGGCAGAAGAGACGTGTGGGCTGGGCCCTCTGTCCCCTTACACCCCCTGAGGATAAGGAATTGATCTAGAGGAGAATGGAGCTTGAGCTAAGGGTGTCTTGGAGGAGAGGAAGGAGCCAGGATGCTGGGGAAGGGGCACCGAGAAAGGGATGGGTAATAAAAGATGAGGAAGGGGGAGTTTTCAGAAAAAGAGGAACATGTTCAGCAGCACCCAATGCCACTGAGAGAGGGAGGAAAAGAAAGACAGGAAGCCACTGGATGTGGCCCCAGGGAGAGCTGGGCCAGTGGAGTGACAGGGCAGAACACACAGAGGACCAGATTCTTGTGTGGCAGGCACTTTCATCCACATGTCCTCAGTGGAAGAGACAGGCTCAGAGAGGGCAAGAGACCCATCCATGGTCACAGAGCAGGAGGCCCATCTCCATCTTCCCCATCTCTCCCTAACTCCCATCTCAGCCCCAACCTCAGGCTGTGTTTTCCTAATTCACTAAGTCACCCTCCTCCTGATCTAGGCTCCCACCTCCATGTCCAGAGCAGAGGCCAACTCCAGCCAGACCCTTGGAAATGCCACCATGGAGAAATGTAAGTGCCTGCAACATGGGAGGTGTCCTGCATGGCAGGGGCAGAGCCTAGCAGTGGCAGGGCAATCCCACACAGCCACTATTGTGTCCAGCCCCAGGAAGCATGGCTGTCAACTAGCCCAGCTCCTGAGCCTGGGTCAAGCTCCGGTGTTGAGGCTCAAGGAGCCTGAGATGGGGCCTTAGGATCAGAGCCCAACTGGGTGGCAAAGGTGGGGACCTGGGAGCCAGGTGTGGGGTCAGCTGTCAGGAGCTCCACCCCCTGCAGGCAACCACATCTTTGTGGACACTGGCCTACCGGACCTGGCTGTGGGGCTCATCCTGCTGGCAGGATCCCTGGTGCTGCTGTGCACCTGCCTCATCCTCCTAGTCAAGATGCTCAACTCCCTGCTCAAGGGCCAAGTGGCCAAGGTCATCCAGAAGGTCATCAATACGGGTGAGCTGCGAGCAGTTGACTGGGCAGGGCCACAGGATGGGCCTTTCCAGATCCTGCTAAGTCCTGTGACTGCCTTGATCTGGGTAAACCCTACCATCTCTGAGACTCAGTTTCCCGATGTGAACAAAGAAGGTGGTTTCTGAGGCCACTGAGGTACTGACAGCTGGAGACCTGTGGCCGCCTCTGGCTGTGGTTCCATTTTAGCAGGTGGAGATGCTCAAGGACCATTGTTTGATTCAATCAACAAAGAGTACTTAAGCCCCCATTGTGTGACAAGGGAGGTGTAGTGCCAGGTATACAGAGGTGAGACAAACAGAGTTGGGTCCTGCCCTGAGGGGCTCACAGCCCAGCAGGGGGAGGAAAGCAATGAAAAATACATGAGATTGGCAAATGGCTCACACCTGTAAATCCAGCACTTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCCAGGAGTCCAAGACCAGCTTGGGCAACATAGTGAGACTTTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAATTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGATTACAGGTGCCGGCCACAACACCCGGCTAATTTTTTGTATTTTTAGTCGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTGATGATCCACCCGCCTCAGCCTCTCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCCGGCCGAGACTTTTGTCTTTACAAAAAATTTTAAAATTAGCTGGGCATGGTGGTGTGCTCCTATAGTCCCAGGTACCCAGGAGGCTGAGTGGGAGAATCGCTTGAGCCTAGCAGGTTGAGGCCGCAGTGAGCTATGATGGCACCACTGCACTCCGACCTGTGCAACAGAGTTCAAAAATAAATAAATAAATAAAAATAGAAAAAGAAAATGAATTAGGAATAGGAAGGAAAATGAATTAGGGGGATAAATTCAGAGAGAGGTACCTGCCAAGGACATAGCAAAAATGGCAGTGCAGTAGGGTGTGGAAGAGACGGTTTCCAATGCGCTGTTTGAGGCCGCTCAGTGCAGTTGGCATTTGAACAGACACAAGTAGCCACGATGCGGATGAAGAGCACTCTGGGTGGAGGAACAGTATGTGCAAAGGCTCAGAGGCAGGAACCAGCATGGCAGGTCCGTGGCACAGAAGGGTGGCCAGTAGCTGGCAGGAGCAGGGTAAGGGATTGCCTGAGTGGGGTCAGTGAGGTGGCACGGAAGGGGCCAGAGCATGGGGTCTCCAGGCTCTGCTCAGAGCCTGGACTTTATTGAGGGTAACATGAGCACTCAGAAGACTTGGGGTAAGGGAGCAACACCATTTGATTTTCATTTTCCCTTTTTTGTTTTTTGAGACAGAGTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACTTCAGTCTCCTGAGTAAACTGGGATTACAGGTGTGCACCGCCACACTCAGCTAATTTTTGTATT
|
AGAGGGTCACTCCATATCAGAAGACAGTTTACCGAAGGCTCATGATGAGCCAAGCCCTGTGATGAGCGCTTTAAACACATTCCCCCTGTAACCTTTACAGCAGCTCCTCTATTATCCTGCGTTAGAGAAAACAGGCTCTGAGAGGTGGCATGGCTTACCCAGGGTGGTTGGTATAAGAAGCAGGATTTGAACTCAGATCTGCCTAACAGCAAACACCTGGCTCTCTCTCTCCCTTACCCTCGCAGCAGTTACCGTTGCTTTCCCAGCCTGGTTTTCTCATCTAGCCCATCGCAGCCTATTTTTTCCAGGCTTCTTGGCCTGCCATTCAGGCCCAGTCTTGATGGGTCCCCAAGGCCCTGATGTGGCGAACTGGGAGCACAGAAGAGCACATTGCCCCATTCAAGGGAGCACATCCCGCTAAAATAAACCCGGATGTTACACCAGACGCCATAAAAGTTCTTACCTTGGCCAGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCCGAGGTGGGTGAATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGGGCCTGTAACCCTAGCTACTCGGGAGGTGGAAGCGGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGGACTCCAGACTGGGCAACAGAACAAAAACTCTGTCTCAAAATAAATAAATAAATAAATAAATAACTTCTTAACCCAACAAGGCTACAAATGAGTTGTCCACAGGCCAGACTGGCCTGCTTCTGCTGACCTTCATTGAATTGTAAAAGATAACTCAAAGTGGTCGCCAATATTTACAGATTGGGAGTTTGTTGCTTTCGGGAGTTTTTCATTTTTTGAGATAAGGTCTTGCTCTGTCACTCAAGCTGGAGTGCAGGGGCATGATCATAGCTCACTCCAGCCTCGACCACCTGGGCTCAAGAGATCCTCCTGCTCCAACCTCCTGAGTAGCTAGGACTACAGGTGTACACCACCATGCCCTAATTTTCTTTGTGGAGACAAGGTCTTGCTATGTTGCCCAAGATGGCCTCCCACTCCTGGCCTCGAGTAATCCTCTCACCTCAGCCCCCCAAAGTGCTGGGATTACAGCCATGAGCCACACTGCACCTGGCCCAGATTGGGAGATTTCATCTAGAACTTCAGAGTTGTGGCTTTTCTCATAGAAATTGGGCAATTTAGCCACACTAGGCTGCGTCCCTGGATGGTGACAGTGATCAGGAGCTGAGTAGCTACTGCTGACTCTACAGGCCCAGCAGAAACTCTCCCCACCTCTTCCACACACAGCCCGAGCTGCTCACTTAGGTTACCGGCCCGGACCTGTGGCCTTCTGAATTGTAGGGCCTCCCTGGGGAGCCCCTTTGTCTCACTGACAGTAGGTGGGCAGAAGAGACGTGTGGGCTGGGCCCTCTGTCCCCTTACACCCCCTGAGGATAAGGAATTGATCTAGAGGAGAATGGAGCTTGAGCTAAGGGTGTCTTGGAGGAGAGGAAGGAGCCAGGATGCTGGGGAAGGGGCACCGAGAAAGGGATGGGTAATAAAAGATGAGGAAGGGGGAGTTTTCAGAAAAAGAGGAACATGTTCAGCAGCACCCAATGCCACTGAGAGAGGGAGGAAAAGAAAGACAGGAAGCCACTGGATGTGGCCCCAGGGAGAGCTGGGCCAGTGGAGTGACAGGGCAGAACACACAGAGGACCAGATTCTTGTGTGGCAGGCACTTTCATCCACATGTCCTCAGTGGAAGAGACAGGCTCAGAGAGGGCAAGAGACCCATCCATGGTCACAGAGCAGGAGGCCCATCTCCATCTTCCCCATCTCTCCCTAACTCCCATCTCAGCCCCAACCTCAGGCTGTGTTTTCCTAATTCACTAAGTCACCCTCCTCCTGATCTAGGCTCCCACCTCCATGTCCAGAGCAGAGGCCAACTCCAGCCAGACCCTTGGAAATGCCACCATGGAGAAAGGTAAGTGCCTGCAACATGGGAGGTGTCCTGCATGGCAGGGGCAGAGCCTAGCAGTGGCAGGGCAATCCCACACAGCCACTATTGTGTCCAGCCCCAGGAAGCATGGCTGTCAACTAGCCCAGCTCCTGAGCCTGGGTCAAGCTCCGGTGTTGAGGCTCAAGGAGCCTGAGATGGGGCCTTAGGATCAGAGCCCAACTGGGTGGCAAAGGTGGGGACCTGGGAGCCAGGTGTGGGGTCAGCTGTCAGGAGCTCCACCCCCTGCAGGCAACCACATCTTTGTGGACACTGGCCTACCGGACCTGGCTGTGGGGCTCATCCTGCTGGCAGGATCCCTGGTGCTGCTGTGCACCTGCCTCATCCTCCTAGTCAAGATGCTCAACTCCCTGCTCAAGGGCCAAGTGGCCAAGGTCATCCAGAAGGTCATCAATACGGGTGAGCTGCGAGCAGTTGACTGGGCAGGGCCACAGGATGGGCCTTTCCAGATCCTGCTAAGTCCTGTGACTGCCTTGATCTGGGTAAACCCTACCATCTCTGAGACTCAGTTTCCCGATGTGAACAAAGAAGGTGGTTTCTGAGGCCACTGAGGTACTGACAGCTGGAGACCTGTGGCCGCCTCTGGCTGTGGTTCCATTTTAGCAGGTGGAGATGCTCAAGGACCATTGTTTGATTCAATCAACAAAGAGTACTTAAGCCCCCATTGTGTGACAAGGGAGGTGTAGTGCCAGGTATACAGAGGTGAGACAAACAGAGTTGGGTCCTGCCCTGAGGGGCTCACAGCCCAGCAGGGGGAGGAAAGCAATGAAAAATACATGAGATTGGCAAATGGCTCACACCTGTAAATCCAGCACTTTGGGAGGCTGAAGCAGCAGGATCACTTGAGCCCAGGAGTCCAAGACCAGCTTGGGCAACATAGTGAGACTTTGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAATTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGATTACAGGTGCCGGCCACAACACCCGGCTAATTTTTTGTATTTTTAGTCGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTCACCTGATGATCCACCCGCCTCAGCCTCTCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCCGGCCGAGACTTTTGTCTTTACAAAAAATTTTAAAATTAGCTGGGCATGGTGGTGTGCTCCTATAGTCCCAGGTACCCAGGAGGCTGAGTGGGAGAATCGCTTGAGCCTAGCAGGTTGAGGCCGCAGTGAGCTATGATGGCACCACTGCACTCCGACCTGTGCAACAGAGTTCAAAAATAAATAAATAAATAAAAATAGAAAAAGAAAATGAATTAGGAATAGGAAGGAAAATGAATTAGGGGGATAAATTCAGAGAGAGGTACCTGCCAAGGACATAGCAAAAATGGCAGTGCAGTAGGGTGTGGAAGAGACGGTTTCCAATGCGCTGTTTGAGGCCGCTCAGTGCAGTTGGCATTTGAACAGACACAAGTAGCCACGATGCGGATGAAGAGCACTCTGGGTGGAGGAACAGTATGTGCAAAGGCTCAGAGGCAGGAACCAGCATGGCAGGTCCGTGGCACAGAAGGGTGGCCAGTAGCTGGCAGGAGCAGGGTAAGGGATTGCCTGAGTGGGGTCAGTGAGGTGGCACGGAAGGGGCCAGAGCATGGGGTCTCCAGGCTCTGCTCAGAGCCTGGACTTTATTGAGGGTAACATGAGCACTCAGAAGACTTGGGGTAAGGGAGCAACACCATTTGATTTTCATTTTCCCTTTTTTGTTTTTTGAGACAGAGTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACTTCAGTCTCCTGAGTAAACTGGGATTACAGGTGTGCACCGCCACACTCAGCTAATTTTTGTATT
|
Task1_train_9881
|
A mutation in SLC34A1, F12 (solute carrier family 34 member 1| coagulation factor XII), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; FACTOR XII (WASHINGTON D.C.)
|
CGCCGTCACCCTCGGCCAGCAGGTGGTCGCGGATGACGCAGCAGCGGCGGCCCCCCACGCTCAGGCCCGCCTGCAGGAAGGTGTGCCTGTCCGGCCCCGTGAGCACGCCCACCTCCTGCGGCGAGATGGCCGCCAGCAGGCCCCCGGGCCGCGAAGCCCACACGCAGCTGTTGTCCGCATGGCCCACGATGGCCACGTCGTCGATGCGCTGGTCCCGCAGCACTGCACTGATGTAGACCTTCCAGTCGCCCATCGCGCTCCGAGTGCGCCCAGCCGCCTCGCACCTCTCGGGGAAATATAGAGGCGCCACGCGGGGAAGGCCTGCGGCGCTGTGAGGCAGGCTGGGCGGGGCTGTGACGTCACACAAGGCGCCGTCCCGGAGCGACCACCCAGGCTGGGGCACGTGGGGCGTGGGCGTTTAGTGCTGTCGCAGTTCTAAGGTTATCCTGTAGGATGGGTTTGGCAGAGCGCAGCGGCTCACTCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCGGGCGGATCGCTTGAACTCAGTAGCGAGATTATAGTAAACTATTATAGGATCGTGTCGCTGCACGCCAGCCTGAGCCACAGAGCGAGGCCCCGTCTCTAAAAAAGCAAAAACAAATTTTAATTAAAAAAAATTTTTTTGAGATGAGGTCTCACTATGTTGCCCAGGCGGGTCAGGAAGTCTTGAGCTCAAACAATCCTCCCGCCTCAGCCTCTCAAAGTGACGAGATTACAGGCGTGAACCACCGCATCTGGCCAATCTATTTTTAATTTTAAAAAGCTGGTTTTGTGAAAAAAGGATGTTGTGTCTGGACAGCCAGACCTTCACTTGTAAGGGAACCAACCATTCAACCCCCAGATTGTGGTTCTTAAGCATGAGAGAACATCAGAATCCCCCGCAAGGCTGTTAAACAGATTGCTGGGCCCCACCCCAGACTTTCTGTTCAGCAGTATAAAGTGTAGCCCGAGAATTTGTTATGTGTAACAAGTTCCCTGGTGATGGTACTGCTAGCCAAGGGACTCTCAGACCCACTACACTAGTGCGTGTTGGGGTGGGGACAACGATATGTCACCCAGCCCTTAGGGTCCACGCCACAGTCAATGCTCTTTTTTTCTATTTTCTTTTTTCTTTTCTTTCTGTCTCTCTCTTTCCCTCCCTCTGTTCCTTCCTTCCTTCCTTCCTGCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCGCCGTGCCCGGCTAATTTCTTGTATTTTAGTAGAGACGGGGTTTCATCGTGTTGCCCAGGCTGGTTTCGAACTCCTGAGCAATCCACCTGCCTTGGCCTCTTAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGCTAAGTATTTCTAACCACGATTCTCAACCTTGGCTGTACATGGAATTATCTGGGGAGTTTTACAAATATACCACTACCCATGCCCCATCCCTAGACATACTGATTTAATTGGTCTGAGGTGGAACTTGGGCATAGATTGGCTCAAAACGCTCCCCAAGTGATCTTAATGTATGGTCTGAGAACTACTGCTCTGTAAACAAAATGTTAGTTTCTCATAAGGAATAACATGCAGCTTCTCCTTGCACAGGGCTTGGTATACAGTATCCTAGGCTCAGTAAACATTAGCTGGGCTGGCATCTAGATTTTGCACGTTAAGATCTCATAGACCTTGTTCTCTGAGAGCTGTGGAGAAGCTGTGAATCGCTTTTCTGTCTTGGCATTTCCCGGCGGGACCCATGAAGAAAAGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAG
|
CGCCGTCACCCTCGGCCAGCAGGTGGTCGCGGATGACGCAGCAGCGGCGGCCCCCCACGCTCAGGCCCGCCTGCAGGAAGGTGTGCCTGTCCGGCCCCGTGAGCACGCCCACCTCCTGCGGCGAGATGGCCGCCAGCAGGCCCCCGGGCCGCGAAGCCCACACGCAGCTGTTGTCCGCATGGCCCACGATGGCCACGTCGTCGATGCGCTGGTCCCGCAGCACTGCACTGATGTAGACCTTCCAGTCGCCCATCGCGCTCCGAGTGCGCCCAGCCGCCTCGCACCTCTCGGGGAAATATAGAGGCGCCACGCGGGGAAGGCCTGCGGCGCTGTGAGGCAGGCTGGGCGGGGCTGTGACGTCACACAAGGCGCCGTCCCGGAGCGACCACCCAGGCTGGGGCACGTGGGGCGTGGGCGTTTAGTGCTGTCGCAGTTCTAAGGTTATCCTGTAGGATGGGTTTGGCAGAGCGCAGCGGCTCACTCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCGGGCGGATCGCTTGAACTCAGTAGCGAGATTATAGTAAACTATTATAGGATCGTGTCGCTGCACGCCAGCCTGAGCCACAGAGCGAGGCCCCGTCTCTAAAAAAGCAAAAACAAATTTTAATTAAAAAAAATTTTTTTGAGATGAGGTCTCACTATGTTGCCCAGGCGGGTCAGGAAGTCTTGAGCTCAAACAATCCTCCCGCCTCAGCCTCTCAAAGTGACGAGATTACAGGCGTGAACCACCGCATCTGGCCAATCTATTTTTAATTTTAAAAAGCTGGTTTTGTGAAAAAAGGATGTTGTGTCTGGACAGCCAGACCTTCACTTGTAAGGGAACCAACCATTCAACCCCCAGATTGTGGTTCTTAAGCATGAGAGAACATCAGAATCCCCCGCAAGGCTGTTAAACAGATTGCTGGGCCCCACCCCAGACTTTCTGTTCAGCAGTATAAAGTGTAGCCCGAGAATTTGTTATGTGTAACAAGTTCCCTGGTGATGGTACTGCTAGCCAAGGGACTCTCAGACCCACTACACTAGTGCGTGTTGGGGTGGGGACAACGATATGTCACCCAGCCCTTAGGGTCCACGCCACAGTCAATGCTCTTTTTTTCTATTTTCTTTTTTCTTTTCTTTCTGTCTCTCTCTTTCCCTCCCTCTGTTCCTTCCTTCCTTCCTTCCTGCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCGCCGTGCCCGGCTAATTTCTTGTATTTTAGTAGAGACGGGGTTTCATCGTGTTGCCCAGGCTGGTTTCGAACTCCTGAGCAATCCACCTGCCTTGGCCTCTTAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATGCTAAGTATTTCTAACCACGATTCTCAACCTTGGCTGTACATGGAATTATCTGGGGAGTTTTACAAATATACCACTACCCATGCCCCATCCCTAGACATACTGATTTAATTGGTCTGAGGTGGAACTTGGGCATAGATTGGCTCAAAACGCTCCCCAAGTGATCTTAATGTATGGTCTGAGAACTACTGCTCTGTAAACAAAATGTTAGTTTCTCATAAGGAATAACATGCAGCTTCTCCTTGCACAGGGCTTGGTATACAGTATCCTAGGCTCAGTAAACATTAGCTGGGCTGGCATCTAGATTTTGCACGTTAAGATCTCATAGACCTTGTTCTCTGAGAGCTGTGGAGAAGCTGTGAATCGCTTTTCTGTCTTGGCATTTCCCGGCGGGACCCATGAAGAAAAGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACTGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAG
|
Task1_train_9882
|
A mutation in SLC34A1, F12 (solute carrier family 34 member 1| coagulation factor XII), located on Chromosome 5, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; FACTOR XII (LOCARNO)
|
TAACATGCAGCTTCTCCTTGCACAGGGCTTGGTATACAGTATCCTAGGCTCAGTAAACATTAGCTGGGCTGGCATCTAGATTTTGCACGTTAAGATCTCATAGACCTTGTTCTCTGAGAGCTGTGGAGAAGCTGTGAATCGCTTTTCTGTCTTGGCATTTCCCGGCGGGACCCATGAAGAAAAGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGG
|
TAACATGCAGCTTCTCCTTGCACAGGGCTTGGTATACAGTATCCTAGGCTCAGTAAACATTAGCTGGGCTGGCATCTAGATTTTGCACGTTAAGATCTCATAGACCTTGTTCTCTGAGAGCTGTGGAGAAGCTGTGAATCGCTTTTCTGTCTTGGCATTTCCCGGCGGGACCCATGAAGAAAAGAGCTTTCCTTCTCAGCATTTTCAAAGCACTTTATTGAGTTCCTGCGCCATCCTGGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGGGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGG
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Task1_train_9883
|
Given this variant in gene F12 (coagulation factor XII) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Hypertensive disorder
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCCTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
|
Task1_train_9884
|
Chromosome 5 houses a mutation in gene F12 (coagulation factor XII). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Urticaria
|
GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
|
GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCCTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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Task1_train_9885
|
The gene F12 (coagulation factor XII) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Hyperbilirubinemia
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
|
GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCCTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
|
Task1_train_9886
|
This sequence variant lies in F12 (coagulation factor XII) on Chromosome 5. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Angioedema
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCCTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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Task1_train_9887
|
The gene F12 (coagulation factor XII), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Factor XII deficiency disease
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCCTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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Task1_train_9888
|
A mutation found in F12 (coagulation factor XII) on Chromosome 5 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Hereditary angioedema type 3
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
|
GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCTTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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Task1_train_9889
|
Here’s a variant in F12 (coagulation factor XII) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Hereditary angioedema type 3
|
GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCTTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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Task1_train_9890
|
This sequence change occurs on Chromosome 5, altering F12 (coagulation factor XII). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Factor XII deficiency disease
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCTTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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Task1_train_9891
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This is a variant in F12 (coagulation factor XII), located on Chromosome 5. Is this mutation a likely cause of disease or not?
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Pathogenic; Hereditary angioneurotic edema
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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GGCGCGGAGCTGGCCGCACTGGGGGAATGGGACACAATCTTGCCTTCCATGCCCCAGCCACTCTCTCACTGCGGAATCACCAAGGAGGGAAAGATGAGTCCCTGAGCAATCAGGAAACGGTGTGCTCCCGGATCCAGGCCAGGTAGTAGGCCACATCGGTGTAGACGCCTGGCTTGTTGCGGTCACCACAGCCCGATCCCCAGCTGATGATGCCTTGCAGGGTGAGCCGGCGCTCTGCAGCTTGGTCCTCACACACCAGCGGGCCTCCGGAATCACCCTGGGTCGGAAACACGCAGCTCAGCGCTGTGGACCTGAGATTTGTGCCTGACGGCCTCGGGGAAGGGCGCCAACCGGGCTAAGAGCTCACCTGGCACGCATCGGTGCCGCCCTCGAGGAACCCTGCGCAGAGCATGCCGGGGAGGATGGAGGATCCGTGCACGTCCGGGGCTGAGCAGCGCTCCAGGGAGAGGAACGGTACCTGCGCCTCCTGCAGGAAGCTGGCATATTCCTCCGCCCCTGCGAACACAGAGCGCCTTCTTCACACCCCATCTGACAACGCTTGCCGCCCGGACGATGGACAAAGCTGCTCCAGGCGCTTGTAAACCCACTCATGCCCTTCCTCTCTCGCAGCAAGCCCGAAGGGGAGGAGGTGCCATTAATTCAATTTCATAGGCAAGGAGGCTGAGGTCCAGAGAAAAGCCAGGATTTGAATGGGCGGAGCGGAAACAGAAACCCCTCCCCCACCACCCATCCAGAGTCGCAGAACCTGGCTCCCACACTAGCCCGGAGCGCGGGGCCAGCGTCCTAGTTGGCCTTTGCAGCCCGGCGCCCAGAGGGAACCAAGAGCAAGTTCGATTCTCCCTGTATCCCCAGGAGATTTGGGGATCCCAGCAGTGAATCCCAGGCCCTGGGATTCTACCTGGGATTCACCTACACATTCTCACAACCCATCAGGTCAGCGCCACCCATTCTGTAGGCACCCGGAACGATACCAAAGTCGCGGGCTTCTTCCGCCTAACCCAGTGATCAAAGGTCTCCTCCCCTACCCCTGCCCCTAGCAGTTGTGCCTACCCTCGAACTGGTGGCCCCAGCCGGCCACCTGGCAGAGCGTGGTCTCGGAGGGTCGCGCGGCGCCGCTTGGCAGGCACACCGGCTGAACGTAAGGCGACAGGAGCGCGCAGCTGCCGTCCGCATCCTCCTGAAGGCGCAACAGAGCTAACCCGGGCGGAGAGGAGCGTGAGGCGGGGACGCCGGGGCCCCAAGCTCTCTTCCCGTCCCCGCGGGGCGCCCCCACGCACCCAGGTCGTGCTGGTAGCTGACGGGCGAGAAGGCCTCGTGCAAGCGGTAGGAGCGCACGGCCAACGTCTGGCACGGCTCACAGCTGTGGTTACGGCGTTCCTGGCCGAGCACCACCGTCAGATCCTCGGGTGCGGGCCTGCGGGGGGGGTAGGGGAGAGGCAGCGCTCTCAGACCTGGCCACAAGCGTTCTGGGGAAGCCCCCTGCTCCCGAACCCCAATCCCGTGTTCCAGCTTCCTCCCCGGGAGCTCCGGAGGGGCGTGGAAAGAAGGGTGGGGCGGGAGAAGGTAGGGCACGGGTTCGGGTGCAGCGTGGAAGCTGCGCTGGGAGACGGAGGAGCCGCGGCCCCTGGGGCGGCTCTGGGCGGGCGGGTACTCGCCGGTCCTGCAGGCAGTGAGCGGCCGTCAGCACCCAGCAGGGGGCGATGAGGCTGCCGGCGCAGAAACTGTGGCCCCAGTACAGCGCGGCGATGTAGGGGTGCGCCCCGCGTAGCGCCACCAGCCCGCCAACGACGCGGGTCATCGAAGACAGACTCTTGCGGAGCCGCTGCCCGCAGCTCAGTGGGCCGTTCCTGGTCAGGGAAGGCGGCTGCTCCCGCTTCGCCGGCAAGGCTGTGGAGGAGCAGGGGCTGAGGACGGAGAGCCCGCGGCCGGCTGGCCGGAATCTAGCTCGCCCGGCGCCCTCTCGGCTCCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCTTGGGCTGAGGCTTCGGCGGTGCCGGCTGCGCGGGCATGAGTGGGACATGAAGCCTAGGGGACACCGGGGTCGGAGGCGCCGCCTGGGTTGGGGTCTGGCACTGTGCCAGGTCGCAGTACTCCCAGCTCAGCCGGTCGCGGTTCAGCACGAAGCACCACGGGCGGATGTCGTTGTCCGGGTTCCTGTAGCCACACGACGGGGCGCCGTTAGAGCGCCGGGAGCCCGGAGCCCTGGGGCGGAGGGGTCACCCAGCCCCACGCGGCGCACCGGCAGAAGGCGTGGCCGCCCAGTCCCCAGTTCCGCGCTTGCTCGGCAGTCACGTTCCGGTAGGTGGCCTCCGAGGCCCACGGCTGACAGGGCGCACCCGAGAGCGTGGTCCTGGCCAGGCCGCGGTAGCTGAGCCCGCGGCCATCATAGCAGCTTGCCTTGGTGTCTGAGGAGAAAGGGGGCTCCCTGGGCAGCCAAGGCTGGGCTCTCCTGCCTCCCTCTCATCTGCTTTCCGCACTCTCCCTCCTCCTTCCTGGCAAGCCCGTCCCACCTGGGGGCTGGCCTTCTGCTTGCCCCAGACCCTCACTCACCCACGTCGCAGAAGGCTCCGGTGTAGCCCACCGGGCAGTGGCACAGGCGGTGGCCCTCCACCTCTAGGCAGCGACCCCCATGGAGGCACGGGTTGGTGCGGCAGGCTTGGGGAGGGAACGCAGTGAGCCACCCCTGGGCCTAAAGACCCCCCCAGAGAGCTCTCCTTCCTGGCACACCACCCGGCCTCCTGCCAGCCTGTCTTCCTGACGCTCCTCCCTGGCCCGTTCCCAACCATCTGCTCACCCTGGCTGGCCAGCCGCTGGCAGTGGGCATCAGGACCCTTGCACTGGCATCTGGCCACAGCTGCTTGCTCAGTTCTATACCATATCTCATTCTTGTGGAAAAACCGGAGAAGCTGAGGCTCAAAGCACTTCTCTGGGGACAAAGAGGGATAGTGGTCTCAGGAGAGTCTAGGACCATGCCAAGTCTCCGAGTATCCAGCAACCTATTCTGTAGGCCCAGGGTTGCCCCTGTCCCCCAGCACCCCGCCCAGGTCCTCCACATCTCCTCACCTTTCTGGCAGTGGTTTCCAGTGAGGTGTTGTGGACAGAGACAGTGGGGGCCGCTTGGCATGTTCACACAGGTCCCTCCTTTCTGGCAGGGGCTGTGTTTGCTGCAGTGGTCTGAGAGATGGACATGGTGGAAGGAAGAGCAGGGAGCTGAGTCACACAGCTGGGGGCCAAGGCCCTTCTTGAACCTACTTGCCTTGTGACCTTGCTACTCCAAGTTTCCAAGCTTGGTTTACCCACCTGCAAAATGGGACCACTCCTTCCCAGAACTCTCCCTCTGGACTTCCAAAGGGTATTGTGGAGGGAGAGAAGGGGCTGGGTCCAGAATCCCAGGTGTGTGGGGTCTGGTGATACCAGGAGAGTAATGAGGCGGGAGGAGAGAGCCCCAGGCCACCCCAGAGGCTGTGTGTAGCACCTTTCACTTTCTTGGGCTCCAAACAGTATCCCCATCGCTGGTCCTGATCAAAGTTGGGGGTGGTAGCACACCTGTAGAAAGAGACAAGGCTTCCCTGCTCTACCCAGGGGCCTGGCCCACCCTGCCCTATCACAGTCCCCTCTCTCCAAGCAGAGTTCCTTGGACAGAAGGACAGGCAGGGTACATGTCTCCCAGGCCCCTGCTCCAACTCCTCTGCGTAGTCTTACCAGGGCTGAGGGCCTGGCCGGCCCTTGTGGGTACATTTGTGGTACAGCTGCCGGTGGTACTGGAAGGGGAAGTGGCAGGGCTCCCCGGTGACAGTGAGAACTGCAGGGACAACACACTCTCTGAGGACTTCCCCTGTACTCAACTGCTCAGGCACTGTCCCTCAGGGTCTGGTCAGGAAAAGGACAGACCCTCAAAAAGGTCGCTGTGCATTGAAAACACTTTCTGCTCTAAAAGTTGGGTTCAGGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAG
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Task1_train_9892
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This genomic variant is located on Chromosome 5, within the DDX41 (DEAD-box helicase 41) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not provided
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CCAGGCCAGCCTATCTTACCGAGGGGCAGATGATGAGTCCATAGGGCCCCTCGCGCTTTGAGAAGGGTAACCTCTTCTCTTGTTCCAGGCAGAACATGATGACGGGCAACGTGAACACCAGTGTCTTGCCTGAACCCGTGAAAGCGATGCCTATCATGTCACGGCCAGATAGACTGTTGGGAGAGGATGACCCGAGGGCCAATTTCAACAGAAGATGAAGGACACCTAGCCATTGCTCCTCCCTGTTCCAGCCCTCCTCAAGGACCCCAGGTCCACAGTCCACACTCACATGGTGGGGATGCCCTGGATCTGAATGGGTGTTGGGTGGTGAATGCCTTTCTTCTTCAGGCCTCTCAGGATGGCTATGAAAACCAACCGACATCGTCTTCATGACTCACAGGTACTTTCTCAGAGCCCCAAAGCCTGTAAAACTGGCACTACCCCTACAAGTTGCAGATGATGAAACTGAGGCTCAGAGAGAGAGAGAGAGAGTGGAAAAAAAAAAAGAAAAAAAGAGACTTGTCCAAGGCCCACAGGCTAGGTGCAGCCAGGATTTGTACCCAGTGTCTATGCCCAATGGCACTTTCCTCCTGAAGCTTTGTAACAGCAGAGAACAATGAACACGTACAGCTGAGGCAACAAGGAACCTAAAGAAACTCCTCCTCAAATCCCTCCAGCCCCAGTGACTGGATCCAATGCAGATGTGGCTGAGCTCAGTGGGAGCCAGGACATAACCTCACAGGCATTTGATTATAAAAGTGTGGTATCTCTCTCCAGCCCCTGACTACCTGCAGGAAACTTCATTTCCTTGAAGCTCTTGATGGGTGGTGGGATACCGTCTCCCTCCACCAGGATGTGGTATTTCTTCCGCACGCGCTCATGTCGCTCTTCAGACATGCTCAGAACATAACGGGGTGGAGTCCAGCTGTGGATGGGTAACAGGGATCAAGAGAGCCCTGGGAATAGCTGGCCTGGGAGCATCCCTGCATGTACCATCCTAAGCAAGGGCAACTGCAGACTGTACAGACATACCTGGTTTTGATGGGGTCATCATACGTAATGCCCTTAGCCATCTCCTTCACTGACATCAATGCTGAAGAGAGAGACATGGCTCAGGGCTGGCTCCTGCTTCTGAGAAGCCAGATCCCTTGAGATATAACATGCCTGGGGCTGGGAGGAGAAGACTCAGTCCACCTTCTCACTATCCTGGCTACAACCATACCTCGGCCCTCGGCAACACTCTCCAGGATCTTCTCTTCTTCCTTCAGCTGCTTCTCCTTGGCAGACTCTTTGCGCGCTGAGAAAAGAAGTGGAAGATGTCAGACAGATACCAAAACGGTGTACCAGGCTCAGCTTCTTCTTTCTCGCCCAGGCAGTGCTGCCCAGCCCACCTTCAGCCTTCTCTTTAAGGTGCTGGTGCTGATCCAGGAGGCTGACGTTGGACTGAGGGCCTAGCGGGATGTCGTCCTCATCTCCCCGGGGTTCACTACCGCTGTCCTGCTGCTCTTCCTCCGCAGCTCCCTTGCGTCTTCGCTGCAGCAGCTTCTGGAGCTGAGGTTCCACCCGGGATCCACAGATAGGATGGGCATGGAGTCCACAAGGTCAGCGTCAGGATCCTGGCTTTGGGGCGAGGATCCTGTGCCCGAGGCGCAAAGCTGCCCTACCCCTCAGATCAAGCCGTCGGTCCCTCGTTTGTCTGGGGGCCGCGCCCTGGTGTACTGAAGCTCACTCCTCAGACTGCCCTCCTCCCCACGGAGGCCGAGGCCACGCCCGCCCCCTGCGACCCCGCGGTCACGGCCCCATCCCTCCCCGGACGCGTGCCCCTCACCAGTAGCTGCCGGCGCTGCCGTAACGGCACATAGGGCACGTAGTCCTCGTCGTCCTCATCTTCCGCCTCGGAGCGGCTTCCTCCGGCAGGCACCTCGTCGGTGCGAGCCCGCTGCAAGCACACGCCAGTCAGGCACGGCCTGCTCCCCTCTTCACGCCCGCTCCCACACGCGCGGGGTCTCGCCTCTCTCCTACCTTCCGTTCGGGTTCCGACTCCTCCATTCTTTGCTGCACGCATGCGCGCCACGGCGAAACCCCGCCTCATCCTTGCGTGAGACCCAATCCGATGTGAAGAGGCGAACGACGGCGCGTAGGAACGACCTCGGAGTTCCGGATCGCGCAGAGGGACAAATTTGTTCCGGAGATACTATCGCACGGCGAGGCATGGACGCTTTCATGGGTGGTTACGCGACAGTTGCCAGGACCGAGGGCGAAACCGGCTGCAAGGCATTGTGGGACATTGGAGGACTTGGAATATGCGCTAGAAGGCTCAATCCAAGCCCATTGGAAGAGGAAGACGTACGCAGCGGAGACAGCTGATCCGGAGTCGGGGCGGCCTGCCAGGTGCCCAACCTCTCCCAGAGCATGGCGTCTTGGGCACGCCCCTGCCGGCGGACAGTGCGTCCTCTAGGGCCGGGAGCTGCGGGCCGAGTTCGCGTGGGCCCTGCGCTTTCATCCCTGCCGGGGACGCCGGGGTTGCGGGATAAACCGCTCGACACACCCTGCCTCCCTGACTGCGCCTGTGTGACACATACGTTCACTGGTGGGGCACGCATCAGATACGGATGGCAGTGGTTTTGAAGTGGGAGGCCCTGTATAAATGTAAACGGTTATTACTGTAAATGCTCTAACAGAGCTGCCTGGGGGGCGCTTCCAGGGAAGCGTGGCAATCTCAGGCCGGGAGAGGAGAGGCGTCCTGGGCCAGGGCGCTGCAGGAATACAGGTCTGGCGATGTGCAAGTACACAGATTCACCAGGCAACAGCATTGCGGCAAGGGTGGGATGGGGAAGCCAGACCTAAGGCCAGAAAAGGAGATTGCGACCAGAGCATGCCTGCTGTGACTGTCAGAGTAAGTGGTTTCAACTTTATTAGAGACTTCTAAGGAATGACTTGGTCAGCTCTGTGCTTTCTTGCCTTCAAGAGTGTGTGCTGGGCGCTGGCACTGCGCTCAAGCAGATGATAATCAAGACACATACCTGGTGTGCGAGGAGCTTATGTAGATTGAGACTAGAAATATAGACAGATAACTGGTCTTAAAGAGAAAGATCCTAAGACAAGGTACCGCTTTTCGAAGTGTCATAGTTTTCACAGTACAATGGCCTCTTAGCTGGGATGTGAAGGATACACAGGAATTCATGAAGTCTTCTTTAGTAAAGAAAGCTTAGGCTGGGCACAGTGGCTCATTCCTGTAATCCCAGCTCTCTGGGAGGCCAAGGCAGGAGGATCGCTTGAAGCCAGGAGTTCAAGACCAGCTTGGACAACATAGCAAGACCCCATCTCTATAAAAAAAATAAGCTGGTGCTTACTGCCAGTCCCATGGTGGGTCTCAACCTGGGAGGGATGGAGGAGGACATGGTTTCTGGTCCTGCTCACAACACCCAAATACATGGCAATCTCAGGCCGGGAGAGGAGAGGCGTCCTGGGCCAGGGCGCTGCAGGAATACAGGTCTGGCGATGTGCAAGTACACAGATTCACTAGGCAACAGCATTGCGGCAAGGGTGGGATGGGGAAGCCAGACCTAAGGCCAGAAAAGGAGATTGCGACCAGAGCATGCCTGCTGTGACTGTCAGAGTAAGTGGTTTCAACTTTATTAGAGACTTCTAAGGAATGACTTGGTCAGCTCTGTGCTTTCTTGCCTTCAAGAGTGTGTGCTGGGCGCTGGCACTGCGCTCAAGCAGATGATAATCAAGACACATACCTGGTGTGCGAGGAGCTTATGTAGATTGAGACTAGAAATATAGACAGATAACTGGTCTTAAAGAGAAAGATCCTAAGACAAGGTACCGCTTTTCGAAGTGTCATAGTTTTCACAGTACAATGGCCTCTTAGCTGGGATGTGAAGGATACACAGGAATTCATGAAGTCTTCTTTAGTAAAGAAAGCTTAGGCTGGGCACAGTGGCTCATTCCTGTAATCCCAGCTCTCTGGGAGGCCAAGGCAGGAGGATCGCTTGAAGCCAGGAGTTCAAGACCAGCTTGGACAACATAGCAAGACCCCATCTCTATAAAAAAAATAAGCTGGTGCTTACTGCCAGTCCCATGGTGGGTC
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CCAGGCCAGCCTATCTTACCGAGGGGCAGATGATGAGTCCATAGGGCCCCTCGCGCTTTGAGAAGGGTAACCTCTTCTCTTGTTCCAGGCAGAACATGATGACGGGCAACGTGAACACCAGTGTCTTGCCTGAACCCGTGAAAGCGATGCCTATCATGTCACGGCCAGATAGACTGTTGGGAGAGGATGACCCGAGGGCCAATTTCAACAGAAGATGAAGGACACCTAGCCATTGCTCCTCCCTGTTCCAGCCCTCCTCAAGGACCCCAGGTCCACAGTCCACACTCACATGGTGGGGATGCCCTGGATCTGAATGGGTGTTGGGTGGTGAATGCCTTTCTTCTTCAGGCCTCTCAGGATGGCTATGAAAACCAACCGACATCGTCTTCATGACTCACAGGTACTTTCTCAGAGCCCCAAAGCCTGTAAAACTGGCACTACCCCTACAAGTTGCAGATGATGAAACTGAGGCTCAGAGAGAGAGAGAGAGAGTGGAAAAAAAAAAAGAAAAAAAGAGACTTGTCCAAGGCCCACAGGCTAGGTGCAGCCAGGATTTGTACCCAGTGTCTATGCCCAATGGCACTTTCCTCCTGAAGCTTTGTAACAGCAGAGAACAATGAACACGTACAGCTGAGGCAACAAGGAACCTAAAGAAACTCCTCCTCAAATCCCTCCAGCCCCAGTGACTGGATCCAATGCAGATGTGGCTGAGCTCAGTGGGAGCCAGGACATAACCTCACAGGCATTTGATTATAAAAGTGTGGTATCTCTCTCCAGCCCCTGACTACCTGCAGGAAACTTCATTTCCTTGAAGCTCTTGATGGGTGGTGGGATACCGTCTCCCTCCACCAGGATGTGGTATTTCTTCCGCACGCGCTCATGTCGCTCTTCAGACATGCTCAGAACATAACGGGGTGGAGTCCAGCTGTGGATGGGTAACAGGGATCAAGAGAGCCCTGGGAATAGCTGGCCTGGGAGCATCCCTGCATGTACCATCCTAAGCAAGGGCAACTGCAGACTGTACAGACATACCTGGTTTTGATGGGGTCATCATACGTAATGCCCTTAGCCATCTCCTTCACTGACATCAATGCTGAAGAGAGAGACATGGCTCAGGGCTGGCTCCTGCTTCTGAGAAGCCAGATCCCTTGAGATATAACATGCCTGGGGCTGGGAGGAGAAGACTCAGTCCACCTTCTCACTATCCTGGCTACAACCATACCTCGGCCCTCGGCAACACTCTCCAGGATCTTCTCTTCTTCCTTCAGCTGCTTCTCCTTGGCAGACTCTTTGCGCGCTGAGAAAAGAAGTGGAAGATGTCAGACAGATACCAAAACGGTGTACCAGGCTCAGCTTCTTCTTTCTCGCCCAGGCAGTGCTGCCCAGCCCACCTTCAGCCTTCTCTTTAAGGTGCTGGTGCTGATCCAGGAGGCTGACGTTGGACTGAGGGCCTAGCGGGATGTCGTCCTCATCTCCCCGGGGTTCACTACCGCTGTCCTGCTGCTCTTCCTCCGCAGCTCCCTTGCGTCTTCGCTGCAGCAGCTTCTGGAGCTGAGGTTCCACCCGGGATCCACAGATAGGATGGGCATGGAGTCCACAAGGTCAGCGTCAGGATCCTGGCTTTGGGGCGAGGATCCTGTGCCCGAGGCGCAAAGCTGCCCTACCCCTCAGATCAAGCCGTCGGTCCCTCGTTTGTCTGGGGGCCGCGCCCTGGTGTACTGAAGCTCACTCCTCAGACTGCCCTCCTCCCCACGGAGGCCGAGGCCACGCCCGCCCCCTGCGACCCCGCGGTCACGGCCCCATCCCTCCCCGGACGCGTGCCCCTCACCAGTAGCTGCCGGCGCTGCCGTAACGGCACATAGGGCACGTAGTCCTCGTCGTCCTCATCTTCCGCCTCGGAGCGGCTTCCTCCGGCAGGCACCTCGTCGGTGCGAGCCCGCTGCAAGCACACGCCAGTCAGGCACGGCCTGCTCCCCTCTTCACGCCCGCTCCCACACGCGCGGGGTCTCGCCTCTCTCCTACCTTCCGTTCGGGTTCCGACTCCTCCAGTCTTTGCTGCACGCATGCGCGCCACGGCGAAACCCCGCCTCATCCTTGCGTGAGACCCAATCCGATGTGAAGAGGCGAACGACGGCGCGTAGGAACGACCTCGGAGTTCCGGATCGCGCAGAGGGACAAATTTGTTCCGGAGATACTATCGCACGGCGAGGCATGGACGCTTTCATGGGTGGTTACGCGACAGTTGCCAGGACCGAGGGCGAAACCGGCTGCAAGGCATTGTGGGACATTGGAGGACTTGGAATATGCGCTAGAAGGCTCAATCCAAGCCCATTGGAAGAGGAAGACGTACGCAGCGGAGACAGCTGATCCGGAGTCGGGGCGGCCTGCCAGGTGCCCAACCTCTCCCAGAGCATGGCGTCTTGGGCACGCCCCTGCCGGCGGACAGTGCGTCCTCTAGGGCCGGGAGCTGCGGGCCGAGTTCGCGTGGGCCCTGCGCTTTCATCCCTGCCGGGGACGCCGGGGTTGCGGGATAAACCGCTCGACACACCCTGCCTCCCTGACTGCGCCTGTGTGACACATACGTTCACTGGTGGGGCACGCATCAGATACGGATGGCAGTGGTTTTGAAGTGGGAGGCCCTGTATAAATGTAAACGGTTATTACTGTAAATGCTCTAACAGAGCTGCCTGGGGGGCGCTTCCAGGGAAGCGTGGCAATCTCAGGCCGGGAGAGGAGAGGCGTCCTGGGCCAGGGCGCTGCAGGAATACAGGTCTGGCGATGTGCAAGTACACAGATTCACCAGGCAACAGCATTGCGGCAAGGGTGGGATGGGGAAGCCAGACCTAAGGCCAGAAAAGGAGATTGCGACCAGAGCATGCCTGCTGTGACTGTCAGAGTAAGTGGTTTCAACTTTATTAGAGACTTCTAAGGAATGACTTGGTCAGCTCTGTGCTTTCTTGCCTTCAAGAGTGTGTGCTGGGCGCTGGCACTGCGCTCAAGCAGATGATAATCAAGACACATACCTGGTGTGCGAGGAGCTTATGTAGATTGAGACTAGAAATATAGACAGATAACTGGTCTTAAAGAGAAAGATCCTAAGACAAGGTACCGCTTTTCGAAGTGTCATAGTTTTCACAGTACAATGGCCTCTTAGCTGGGATGTGAAGGATACACAGGAATTCATGAAGTCTTCTTTAGTAAAGAAAGCTTAGGCTGGGCACAGTGGCTCATTCCTGTAATCCCAGCTCTCTGGGAGGCCAAGGCAGGAGGATCGCTTGAAGCCAGGAGTTCAAGACCAGCTTGGACAACATAGCAAGACCCCATCTCTATAAAAAAAATAAGCTGGTGCTTACTGCCAGTCCCATGGTGGGTCTCAACCTGGGAGGGATGGAGGAGGACATGGTTTCTGGTCCTGCTCACAACACCCAAATACATGGCAATCTCAGGCCGGGAGAGGAGAGGCGTCCTGGGCCAGGGCGCTGCAGGAATACAGGTCTGGCGATGTGCAAGTACACAGATTCACTAGGCAACAGCATTGCGGCAAGGGTGGGATGGGGAAGCCAGACCTAAGGCCAGAAAAGGAGATTGCGACCAGAGCATGCCTGCTGTGACTGTCAGAGTAAGTGGTTTCAACTTTATTAGAGACTTCTAAGGAATGACTTGGTCAGCTCTGTGCTTTCTTGCCTTCAAGAGTGTGTGCTGGGCGCTGGCACTGCGCTCAAGCAGATGATAATCAAGACACATACCTGGTGTGCGAGGAGCTTATGTAGATTGAGACTAGAAATATAGACAGATAACTGGTCTTAAAGAGAAAGATCCTAAGACAAGGTACCGCTTTTCGAAGTGTCATAGTTTTCACAGTACAATGGCCTCTTAGCTGGGATGTGAAGGATACACAGGAATTCATGAAGTCTTCTTTAGTAAAGAAAGCTTAGGCTGGGCACAGTGGCTCATTCCTGTAATCCCAGCTCTCTGGGAGGCCAAGGCAGGAGGATCGCTTGAAGCCAGGAGTTCAAGACCAGCTTGGACAACATAGCAAGACCCCATCTCTATAAAAAAAATAAGCTGGTGCTTACTGCCAGTCCCATGGTGGGTC
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Task1_train_9893
|
This mutation occurs in B4GALT7 (beta-1,4-galactosyltransferase 7) on Chromosome 5. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Ehlers-Danlos syndrome progeroid type
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GAAGCCCTGGGGGGTTTCCTACCAGGCCACCTCTCAGCTGCGTGTGGAACCTGGGCCTGGCTGCAAGGCTACTGGCTTCCAGGTTGGCGGTCTCTCTAGAAAAAGGGAGGAGTTGGTCTGGCTTTAGCATGTGACTTAAGGCATGCCCTGACTGCCTTACCCCTTTCTGTAACTCACTTGGCAAGCTCTCTGCTGTCTGGCCTGTGCTTGCTGTGCTGGGGCCACAGATAAGAATCTGACACGGCCTGAGAAGCAAGGACACAAGGCATTACAAAAAAGTGGGAAGATGCCGTGGGAATACAAAAGTGGGAGCATTATGGGGGCAGGGGGCAGTGCTGGCCATGACATTGGAGTTCGGCTCTGAAGGATCAACAGGGGTCCTCAGGCAGATAAAGAAGGACATTTCAGGCAGAAGGAGCAGGCTGTGTGAGGGCTGGAGCAGGAAGGAATATAGCAAGTGGAGAAGCTCCGAGGTGCCCAACATGAGAACATGGGGCGAAGGCTTGGGAGCACCTGGAGTTGGGGCCAGGTCATGGAGGGCTTTGACTGTCAGGCCAAAGGGCTTGGCCTTTGTCTGGCAAACAGAGGAGGGTCATTCAGAAGACTGAAGGGGTCTGAGCAGGGCAAGGAACAGATGAGTGAGGAAGGATCAGAGGGGGACTTAGGAGATAGAATTTATTTATTTATTTATTTATTTATGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCTATGCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTGTTACCATATTTGCCAGGCTGGTCTTGAGCTCCTGACCTCGTGATGCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGAGATAGAATTTATAAGACCTGATAGCTAATCGCTGACTCTTAAGATTGTGAAGTGGATTCCTTTGCAGATTACTTTGGGGAGAAGGTAGGGGGAGTACAGAGGAAGCTTCTCCCTTCATGGATTCCTCAGCTCCTGTCTCAGCATACTCAGGAACTTCCAGAGGAGCGGCAAAGGAATCTGGTGAATTCTGTTTCTTTGTATTTGCTAACCAAAAGGCTGTCTCCTGGCATCACCCCAGTGTCTGTGATGTTCAGCTGTTTTTCCAGTTTCTGAAATCAGTGCCTGTGCTGTACCCAGCCCTCATCTTTCTTTCCCTCTCCATCTCCCATCTTTTATCATGAGCTGCCTCTTGGACTAAAGGTTTGAGGCTCGTTCAGTGAACCGCCACTGACAGTTTGGGCCTTGCATTGCTTCGGGGGGCACGTCTGATCTTCCCAGAGTAAACATTGGTCATTTTACCTGGACTAATGCCAGCACACACCCGTGTCTGGGTGGCCTTTCTGGTCATTCTTGGAAGCAGGATGGAGCCACGGTTTCTGCTGGGGTGGATCTGTAGGGGAGCGGGTTTGGAAAGCAGTGGGTTGCATCTCTAAGGTGGGGACTCCTGTCATTGGCTCAGGACATTGAGCCACTATCGTGGGGAGGAGCACCTGCAAGTGACAGGAGCCTCCTCATCCTTGCCCTGAGCAGCTCTGACCAGGACTCAGTCACAGAAAGTAAGAGAGCATTGAGGAGCCGGGGCAGCTCTGTGAACTGGGAGTGGTTCAGAGGGCTTCCCGAGAGCGGGTGGCATGGGTTGGGTCTAGAGAGGCAAGCAGGATTCGGATGCATGGTAGTGGCATGAGCAGAAACATTAAAGTTGCTTCTGTACTAATTCCCAGGTGCTTGGGGTAGACGAGTTATGTGCAGCCTCCTCGTGGGGAGGCCAGAGAACGGGTCTGTCACAGGGCCAGCCCTGCCCCGCCCTCCTGACCCTGTCCCGCGCTTGCTCCAGGTCCGGGTTGCTCTCCGGCGGCCTCCCTCGGAAGTGTTCCGTCTTCCACCTGTTCGTGGCCTGCCTCTCGCTGGGCTTCTTCTCCCTACTCTGGCTGCAGCTCAGCTGCTCTGGGGACGTGGCCCGGGCAGTCAGGGGACAAGGGCAGGAGACCTCGGGCCCTCCCCGTGCCTGCCCCCCAGAGCCGCCCCCTGAGCACTGGGAAGAAGACGCATCCTGGGGCCCCCACCGCCTGGCAGTGCTGGTGCCCTTCCGCGAACGCTTCGAGGAGCTCCTGGTCTTCGTGCCCCACATGCGCCGCTTCCTGAGCAGGAAGAAGATCCGGCACCACATCTACGTGCTCAACCAGGTGGACCACTTCAGGTAGCGCCCGCCCCCACCCTCTCCCCTCGGCACCCCTGCCCGGGCTCAGGCTTCTCAGGCCCTGTGAGAGGCCACCTGGGGCAGGGGCAGGAGGGCGGGAGGTGGCAGACCCCTCTCACTGGGTGTGACAGGAACCTTTGGAGAGGGCCCTGATCTAATTTCCATTTTGAAAAGCTCACTGTGGCTGCCGTATGTGGAATGGATTATACCAGGGCAAGAGGAGAAGCAGGGAGAGCAGTTAGGTGGTCACTGCTGTGGTCTGCGGTGACAGTGGCTTGATGGCCTGGTGGGGGGTGGGTAGAGAGAGGTGCTGTGGAGGAAGCCCAGACAGGACTCCCTGGGGATTGGCCCGGGGATTAGGGAAAGGGAGGGTCAAGGCCACGGCTTTAAAGTTGCCCACAGTCTGGCGTTATCCTAAAATCCCTGCCCTTACCAAAAAGTGCTCCCTTCCATGACCACAGCCTGAGATCTCACCCACCAGCCCCCACCTCCTTTCCCTCTAGGTAACTCCCACTGGAAGATGGATTCTCAGCCCCACCAGCCTGATCTTCCCACCTTTTCAAGTCCCCTTGATCCAGATCCCCAGACCCCCCCCTTTTCCCTGCCACCCTTCTTGTCTTTACTTCCTCCTTACCCAACCTGGAGTCCAAGGTCCATCATTAAAACCCTCCCTGGCATACTCCCTCAAGCCTCTGGTCCCTTGCTGCTGGCGTAATCCCAGCCTGATTTACTCCAGCTCTCTGCTCCACACCTGTGCCTGGGCACTGGAGGGTATGGAGAGGAAAGACAACACGTGAGGCGGCCATGCTGCTGTCCCCATGCCGATGATGCCCCTGCCAGGAAGGCCCTCTGCCCTGCTGGGAGCCTCACTTTCCTCTGGTCTGTCCACTGCAGCCTTTAAAACTATCTGTTCTCCTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCACACACACCCTGAAGTGGCTCCTCTCTCAAAGGAAAAAGACTCCCTGGATCCCACATCCCTCGAGGCTGTCACCCTTCTCTGCTTTCTGGCAGACCTCCTTCCCTTTCTCTCCCCTCGTCTCTCTTGAACCCCTTCCGCTCAGACTCCTGCACCCACCATGGCACAGAGCAGCTCTCACTGAGGTCACCAGCCACCTCCTCCACTCTGTTGGTCCAGAGGCCATGCTGGGCCCTCATCCTGTGGACCTGCCAGCAGCATCTTCTTTCGTAAAATGCCCCTGCTTGGGGCAGCACCCTCTGGTCCTCCCTCTGCACTGGCTGGGCCTCTGTGTCTGTGGGTTCTGCTCATCTCCCCGAGCTCTCACCATCGGGGCTTCTCTGGACTCGGTGCTTCGGCAGCCCCCCTTTTTTAACTCCAGGTGTTCCTTGGGGCATCTCATGTCATCTCCAGCATTAAACCACGTCTCTGATGATTCCTGAGGCTGTTTCCTGGAGTTCTCTCCTAAACTCCAGGCTCAACAGCCCAGCCATCTACACAGTCCCTCCACGTGGTGGCCTCAGAGCTACTGCAAGCTTCCATGA
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GAAGCCCTGGGGGGTTTCCTACCAGGCCACCTCTCAGCTGCGTGTGGAACCTGGGCCTGGCTGCAAGGCTACTGGCTTCCAGGTTGGCGGTCTCTCTAGAAAAAGGGAGGAGTTGGTCTGGCTTTAGCATGTGACTTAAGGCATGCCCTGACTGCCTTACCCCTTTCTGTAACTCACTTGGCAAGCTCTCTGCTGTCTGGCCTGTGCTTGCTGTGCTGGGGCCACAGATAAGAATCTGACACGGCCTGAGAAGCAAGGACACAAGGCATTACAAAAAAGTGGGAAGATGCCGTGGGAATACAAAAGTGGGAGCATTATGGGGGCAGGGGGCAGTGCTGGCCATGACATTGGAGTTCGGCTCTGAAGGATCAACAGGGGTCCTCAGGCAGATAAAGAAGGACATTTCAGGCAGAAGGAGCAGGCTGTGTGAGGGCTGGAGCAGGAAGGAATATAGCAAGTGGAGAAGCTCCGAGGTGCCCAACATGAGAACATGGGGCGAAGGCTTGGGAGCACCTGGAGTTGGGGCCAGGTCATGGAGGGCTTTGACTGTCAGGCCAAAGGGCTTGGCCTTTGTCTGGCAAACAGAGGAGGGTCATTCAGAAGACTGAAGGGGTCTGAGCAGGGCAAGGAACAGATGAGTGAGGAAGGATCAGAGGGGGACTTAGGAGATAGAATTTATTTATTTATTTATTTATTTATGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCTATGCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTGTTACCATATTTGCCAGGCTGGTCTTGAGCTCCTGACCTCGTGATGCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGAGATAGAATTTATAAGACCTGATAGCTAATCGCTGACTCTTAAGATTGTGAAGTGGATTCCTTTGCAGATTACTTTGGGGAGAAGGTAGGGGGAGTACAGAGGAAGCTTCTCCCTTCATGGATTCCTCAGCTCCTGTCTCAGCATACTCAGGAACTTCCAGAGGAGCGGCAAAGGAATCTGGTGAATTCTGTTTCTTTGTATTTGCTAACCAAAAGGCTGTCTCCTGGCATCACCCCAGTGTCTGTGATGTTCAGCTGTTTTTCCAGTTTCTGAAATCAGTGCCTGTGCTGTACCCAGCCCTCATCTTTCTTTCCCTCTCCATCTCCCATCTTTTATCATGAGCTGCCTCTTGGACTAAAGGTTTGAGGCTCGTTCAGTGAACCGCCACTGACAGTTTGGGCCTTGCATTGCTTCGGGGGGCACGTCTGATCTTCCCAGAGTAAACATTGGTCATTTTACCTGGACTAATGCCAGCACACACCCGTGTCTGGGTGGCCTTTCTGGTCATTCTTGGAAGCAGGATGGAGCCACGGTTTCTGCTGGGGTGGATCTGTAGGGGAGCGGGTTTGGAAAGCAGTGGGTTGCATCTCTAAGGTGGGGACTCCTGTCATTGGCTCAGGACATTGAGCCACTATCGTGGGGAGGAGCACCTGCAAGTGACAGGAGCCTCCTCATCCTTGCCCTGAGCAGCTCTGACCAGGACTCAGTCACAGAAAGTAAGAGAGCATTGAGGAGCCGGGGCAGCTCTGTGAACTGGGAGTGGTTCAGAGGGCTTCCCGAGAGCGGGTGGCATGGGTTGGGTCTAGAGAGGCAAGCAGGATTCGGATGCATGGTAGTGGCATGAGCAGAAACATTAAAGTTGCTTCTGTACTAATTCCCAGGTGCTTGGGGTAGACGAGTTATGTGCAGCCTCCTCGTGGGGAGGCCAGAGAACGGGTCTGTCACAGGGCCAGCCCTGCCCCGCCCTCCTGACCCTGTCCCGCGCTTGCTCCAGGTCCGGGTTGCTCTCCGGCGGCCTCCCTCGGAAGTGTTCCGTCTTCCACCTGTTCGTGGCCTGCCTCTCGCCGGGCTTCTTCTCCCTACTCTGGCTGCAGCTCAGCTGCTCTGGGGACGTGGCCCGGGCAGTCAGGGGACAAGGGCAGGAGACCTCGGGCCCTCCCCGTGCCTGCCCCCCAGAGCCGCCCCCTGAGCACTGGGAAGAAGACGCATCCTGGGGCCCCCACCGCCTGGCAGTGCTGGTGCCCTTCCGCGAACGCTTCGAGGAGCTCCTGGTCTTCGTGCCCCACATGCGCCGCTTCCTGAGCAGGAAGAAGATCCGGCACCACATCTACGTGCTCAACCAGGTGGACCACTTCAGGTAGCGCCCGCCCCCACCCTCTCCCCTCGGCACCCCTGCCCGGGCTCAGGCTTCTCAGGCCCTGTGAGAGGCCACCTGGGGCAGGGGCAGGAGGGCGGGAGGTGGCAGACCCCTCTCACTGGGTGTGACAGGAACCTTTGGAGAGGGCCCTGATCTAATTTCCATTTTGAAAAGCTCACTGTGGCTGCCGTATGTGGAATGGATTATACCAGGGCAAGAGGAGAAGCAGGGAGAGCAGTTAGGTGGTCACTGCTGTGGTCTGCGGTGACAGTGGCTTGATGGCCTGGTGGGGGGTGGGTAGAGAGAGGTGCTGTGGAGGAAGCCCAGACAGGACTCCCTGGGGATTGGCCCGGGGATTAGGGAAAGGGAGGGTCAAGGCCACGGCTTTAAAGTTGCCCACAGTCTGGCGTTATCCTAAAATCCCTGCCCTTACCAAAAAGTGCTCCCTTCCATGACCACAGCCTGAGATCTCACCCACCAGCCCCCACCTCCTTTCCCTCTAGGTAACTCCCACTGGAAGATGGATTCTCAGCCCCACCAGCCTGATCTTCCCACCTTTTCAAGTCCCCTTGATCCAGATCCCCAGACCCCCCCCTTTTCCCTGCCACCCTTCTTGTCTTTACTTCCTCCTTACCCAACCTGGAGTCCAAGGTCCATCATTAAAACCCTCCCTGGCATACTCCCTCAAGCCTCTGGTCCCTTGCTGCTGGCGTAATCCCAGCCTGATTTACTCCAGCTCTCTGCTCCACACCTGTGCCTGGGCACTGGAGGGTATGGAGAGGAAAGACAACACGTGAGGCGGCCATGCTGCTGTCCCCATGCCGATGATGCCCCTGCCAGGAAGGCCCTCTGCCCTGCTGGGAGCCTCACTTTCCTCTGGTCTGTCCACTGCAGCCTTTAAAACTATCTGTTCTCCTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCACACACACCCTGAAGTGGCTCCTCTCTCAAAGGAAAAAGACTCCCTGGATCCCACATCCCTCGAGGCTGTCACCCTTCTCTGCTTTCTGGCAGACCTCCTTCCCTTTCTCTCCCCTCGTCTCTCTTGAACCCCTTCCGCTCAGACTCCTGCACCCACCATGGCACAGAGCAGCTCTCACTGAGGTCACCAGCCACCTCCTCCACTCTGTTGGTCCAGAGGCCATGCTGGGCCCTCATCCTGTGGACCTGCCAGCAGCATCTTCTTTCGTAAAATGCCCCTGCTTGGGGCAGCACCCTCTGGTCCTCCCTCTGCACTGGCTGGGCCTCTGTGTCTGTGGGTTCTGCTCATCTCCCCGAGCTCTCACCATCGGGGCTTCTCTGGACTCGGTGCTTCGGCAGCCCCCCTTTTTTAACTCCAGGTGTTCCTTGGGGCATCTCATGTCATCTCCAGCATTAAACCACGTCTCTGATGATTCCTGAGGCTGTTTCCTGGAGTTCTCTCCTAAACTCCAGGCTCAACAGCCCAGCCATCTACACAGTCCCTCCACGTGGTGGCCTCAGAGCTACTGCAAGCTTCCATGA
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Task1_train_9894
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The gene B4GALT7 (beta-1,4-galactosyltransferase 7) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Ehlers-Danlos syndrome progeroid type
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TGCTGGGAGCCTCACTTTCCTCTGGTCTGTCCACTGCAGCCTTTAAAACTATCTGTTCTCCTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCACACACACCCTGAAGTGGCTCCTCTCTCAAAGGAAAAAGACTCCCTGGATCCCACATCCCTCGAGGCTGTCACCCTTCTCTGCTTTCTGGCAGACCTCCTTCCCTTTCTCTCCCCTCGTCTCTCTTGAACCCCTTCCGCTCAGACTCCTGCACCCACCATGGCACAGAGCAGCTCTCACTGAGGTCACCAGCCACCTCCTCCACTCTGTTGGTCCAGAGGCCATGCTGGGCCCTCATCCTGTGGACCTGCCAGCAGCATCTTCTTTCGTAAAATGCCCCTGCTTGGGGCAGCACCCTCTGGTCCTCCCTCTGCACTGGCTGGGCCTCTGTGTCTGTGGGTTCTGCTCATCTCCCCGAGCTCTCACCATCGGGGCTTCTCTGGACTCGGTGCTTCGGCAGCCCCCCTTTTTTAACTCCAGGTGTTCCTTGGGGCATCTCATGTCATCTCCAGCATTAAACCACGTCTCTGATGATTCCTGAGGCTGTTTCCTGGAGTTCTCTCCTAAACTCCAGGCTCAACAGCCCAGCCATCTACACAGTCCCTCCACGTGGTGGCCTCAGAGCTACTGCAAGCTTCCATGATCACAGCTGAATTGCTGGTGGCCTGCCCTGCCCCAAACCTGTAGCTCTGTCCTCTTCTCCATGGGAATGGAAGCTCTTTGCTCTCATTGCTCAAGCCCAAAAGCCCGGGGGTCATCCTCAGCTGCTCCTTCTCTGTCATACACTGCGTCCTATTCGTCAGCAAAATCCATCTAGAATCTGCCCGCTTCTCGCTGTTGCCACTGCCACCTCCTGAGCTAGGCCACCTTCATCTTTTGGTCTCTCACCTAAATCATTGCCATAGTCTCCCAGCTGGTCTCCCTGCTTTCACCCCTGCTCTGACAGTCTCTTCCAGCACAACAGCTAGGGCGGTCCTGTCCAGGCATAAGTCACAGCACGCCTCTACCCTGCTCAGAGCCTCCATGGCACCCATCTTACCCGAGTCAAAGCCCCGTCCTTCAGTGGCCCTTGGGCCTTGTGCAGTCACTGTGTCACCCCCAACATCCCCACCTCTGCCCTCGCCCTGCCCAGCTGCCCGTTGGTCTGCTCCTGCCTCCTGCCGTGGCAGTGCCATCTCTCCTATGCAGAGCCCTAGGCACCCACTGCCCTGTGGGTCATCTCTTCAGGCCTTCAGGTTTCTGTCACTCAGTTCCCCTGGCCCTCCCTGACGGCCCCACCGAGGACAAGAGCCACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGCGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGG
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TGCTGGGAGCCTCACTTTCCTCTGGTCTGTCCACTGCAGCCTTTAAAACTATCTGTTCTCCTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCACACACACCCTGAAGTGGCTCCTCTCTCAAAGGAAAAAGACTCCCTGGATCCCACATCCCTCGAGGCTGTCACCCTTCTCTGCTTTCTGGCAGACCTCCTTCCCTTTCTCTCCCCTCGTCTCTCTTGAACCCCTTCCGCTCAGACTCCTGCACCCACCATGGCACAGAGCAGCTCTCACTGAGGTCACCAGCCACCTCCTCCACTCTGTTGGTCCAGAGGCCATGCTGGGCCCTCATCCTGTGGACCTGCCAGCAGCATCTTCTTTCGTAAAATGCCCCTGCTTGGGGCAGCACCCTCTGGTCCTCCCTCTGCACTGGCTGGGCCTCTGTGTCTGTGGGTTCTGCTCATCTCCCCGAGCTCTCACCATCGGGGCTTCTCTGGACTCGGTGCTTCGGCAGCCCCCCTTTTTTAACTCCAGGTGTTCCTTGGGGCATCTCATGTCATCTCCAGCATTAAACCACGTCTCTGATGATTCCTGAGGCTGTTTCCTGGAGTTCTCTCCTAAACTCCAGGCTCAACAGCCCAGCCATCTACACAGTCCCTCCACGTGGTGGCCTCAGAGCTACTGCAAGCTTCCATGATCACAGCTGAATTGCTGGTGGCCTGCCCTGCCCCAAACCTGTAGCTCTGTCCTCTTCTCCATGGGAATGGAAGCTCTTTGCTCTCATTGCTCAAGCCCAAAAGCCCGGGGGTCATCCTCAGCTGCTCCTTCTCTGTCATACACTGCGTCCTATTCGTCAGCAAAATCCATCTAGAATCTGCCCGCTTCTCGCTGTTGCCACTGCCACCTCCTGAGCTAGGCCACCTTCATCTTTTGGTCTCTCACCTAAATCATTGCCATAGTCTCCCAGCTGGTCTCCCTGCTTTCACCCCTGCTCTGACAGTCTCTTCCAGCACAACAGCTAGGGCGGTCCTGTCCAGGCATAAGTCACAGCACGCCTCTACCCTGCTCAGAGCCTCCATGGCACCCATCTTACCCGAGTCAAAGCCCCGTCCTTCAGTGGCCCTTGGGCCTTGTGCAGTCACTGTGTCACCCCCAACATCCCCACCTCTGCCCTCGCCCTGCCCAGCTGCCCGTTGGTCTGCTCCTGCCTCCTGCCGTGGCAGTGCCATCTCTCCTATGCAGAGCCCTAGGCACCCACTGCCCTGTGGGTCATCTCTTCAGGCCTTCAGGTTTCTGTCACTCAGTTCCCCTGGCCCTCCCTGACGGCCCCACCGAGGACAAGAGCCACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGACTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGCGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGG
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Task1_train_9895
|
Gene B4GALT7 (beta-1,4-galactosyltransferase 7), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Ehlers-Danlos syndrome progeroid type
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CTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCACACACACCCTGAAGTGGCTCCTCTCTCAAAGGAAAAAGACTCCCTGGATCCCACATCCCTCGAGGCTGTCACCCTTCTCTGCTTTCTGGCAGACCTCCTTCCCTTTCTCTCCCCTCGTCTCTCTTGAACCCCTTCCGCTCAGACTCCTGCACCCACCATGGCACAGAGCAGCTCTCACTGAGGTCACCAGCCACCTCCTCCACTCTGTTGGTCCAGAGGCCATGCTGGGCCCTCATCCTGTGGACCTGCCAGCAGCATCTTCTTTCGTAAAATGCCCCTGCTTGGGGCAGCACCCTCTGGTCCTCCCTCTGCACTGGCTGGGCCTCTGTGTCTGTGGGTTCTGCTCATCTCCCCGAGCTCTCACCATCGGGGCTTCTCTGGACTCGGTGCTTCGGCAGCCCCCCTTTTTTAACTCCAGGTGTTCCTTGGGGCATCTCATGTCATCTCCAGCATTAAACCACGTCTCTGATGATTCCTGAGGCTGTTTCCTGGAGTTCTCTCCTAAACTCCAGGCTCAACAGCCCAGCCATCTACACAGTCCCTCCACGTGGTGGCCTCAGAGCTACTGCAAGCTTCCATGATCACAGCTGAATTGCTGGTGGCCTGCCCTGCCCCAAACCTGTAGCTCTGTCCTCTTCTCCATGGGAATGGAAGCTCTTTGCTCTCATTGCTCAAGCCCAAAAGCCCGGGGGTCATCCTCAGCTGCTCCTTCTCTGTCATACACTGCGTCCTATTCGTCAGCAAAATCCATCTAGAATCTGCCCGCTTCTCGCTGTTGCCACTGCCACCTCCTGAGCTAGGCCACCTTCATCTTTTGGTCTCTCACCTAAATCATTGCCATAGTCTCCCAGCTGGTCTCCCTGCTTTCACCCCTGCTCTGACAGTCTCTTCCAGCACAACAGCTAGGGCGGTCCTGTCCAGGCATAAGTCACAGCACGCCTCTACCCTGCTCAGAGCCTCCATGGCACCCATCTTACCCGAGTCAAAGCCCCGTCCTTCAGTGGCCCTTGGGCCTTGTGCAGTCACTGTGTCACCCCCAACATCCCCACCTCTGCCCTCGCCCTGCCCAGCTGCCCGTTGGTCTGCTCCTGCCTCCTGCCGTGGCAGTGCCATCTCTCCTATGCAGAGCCCTAGGCACCCACTGCCCTGTGGGTCATCTCTTCAGGCCTTCAGGTTTCTGTCACTCAGTTCCCCTGGCCCTCCCTGACGGCCCCACCGAGGACAAGAGCCACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGCGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGGCACCCATGCAGCCCTGAGTCCGTGCTCTTTCCTCTCTTCCTCCCCAGGAGCAGTTCAAGG
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CTCATTCATCCCTCGTCCTCACTCATAGCTGACGACTTTGCTTCCAATTTCAGAAAACAGAATGAAATGGAAGAGAACTTTCCCCAGTTCCCTCCACAACTCACCTGCCAGCCTCTGTGCACAGGGACTCAAGGCTGTTCCAGCTTCTGTCCGGGCTGACTCCCACCATCCCCATCCTTCAGTATTTCCCCCCACCCCACAGTTGGGCCCTTCCTCTCCCTCTCGATCAGCGTTCCTCTCCTGGAGCATACCCATGAGCACACACACCCTGAAGTGGCTCCTCTCTCAAAGGAAAAAGACTCCCTGGATCCCACATCCCTCGAGGCTGTCACCCTTCTCTGCTTTCTGGCAGACCTCCTTCCCTTTCTCTCCCCTCGTCTCTCTTGAACCCCTTCCGCTCAGACTCCTGCACCCACCATGGCACAGAGCAGCTCTCACTGAGGTCACCAGCCACCTCCTCCACTCTGTTGGTCCAGAGGCCATGCTGGGCCCTCATCCTGTGGACCTGCCAGCAGCATCTTCTTTCGTAAAATGCCCCTGCTTGGGGCAGCACCCTCTGGTCCTCCCTCTGCACTGGCTGGGCCTCTGTGTCTGTGGGTTCTGCTCATCTCCCCGAGCTCTCACCATCGGGGCTTCTCTGGACTCGGTGCTTCGGCAGCCCCCCTTTTTTAACTCCAGGTGTTCCTTGGGGCATCTCATGTCATCTCCAGCATTAAACCACGTCTCTGATGATTCCTGAGGCTGTTTCCTGGAGTTCTCTCCTAAACTCCAGGCTCAACAGCCCAGCCATCTACACAGTCCCTCCACGTGGTGGCCTCAGAGCTACTGCAAGCTTCCATGATCACAGCTGAATTGCTGGTGGCCTGCCCTGCCCCAAACCTGTAGCTCTGTCCTCTTCTCCATGGGAATGGAAGCTCTTTGCTCTCATTGCTCAAGCCCAAAAGCCCGGGGGTCATCCTCAGCTGCTCCTTCTCTGTCATACACTGCGTCCTATTCGTCAGCAAAATCCATCTAGAATCTGCCCGCTTCTCGCTGTTGCCACTGCCACCTCCTGAGCTAGGCCACCTTCATCTTTTGGTCTCTCACCTAAATCATTGCCATAGTCTCCCAGCTGGTCTCCCTGCTTTCACCCCTGCTCTGACAGTCTCTTCCAGCACAACAGCTAGGGCGGTCCTGTCCAGGCATAAGTCACAGCACGCCTCTACCCTGCTCAGAGCCTCCATGGCACCCATCTTACCCGAGTCAAAGCCCCGTCCTTCAGTGGCCCTTGGGCCTTGTGCAGTCACTGTGTCACCCCCAACATCCCCACCTCTGCCCTCGCCCTGCCCAGCTGCCCGTTGGTCTGCTCCTGCCTCCTGCCGTGGCAGTGCCATCTCTCCTATGCAGAGCCCTAGGCACCCACTGCCCTGTGGGTCATCTCTTCAGGCCTTCAGGTTTCTGTCACTCAGTTCCCCTGGCCCTCCCTGACGGCCCCACCGAGGACAAGAGCCACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCCCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGCGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGGCACCCATGCAGCCCTGAGTCCGTGCTCTTTCCTCTCTTCCTCCCCAGGAGCAGTTCAAGG
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Task1_train_9896
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This variant lies on Chromosome 5 and affects the gene B4GALT7 (beta-1,4-galactosyltransferase 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Ehlers-Danlos syndrome progeroid type
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CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGCGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGGCACCCATGCAGCCCTGAGTCCGTGCTCTTTCCTCTCTTCCTCCCCAGGAGCAGTTCAAGGTGGACAGGGAGGGAGGCCTGAACACTGTGAAGTACCATGTGGCTTCCCGCACTGCCCTGTCTGTGGGCGGGGCCCCCTGCACTGTCCTCAACATCATGTTGGACTGTGACAAGACCGCCACACCCTGGTGCACATTCAGCTGAGCTGGATGGACAGTGAGGAAGCCTGTACCTACAGGCCATATTGCTCAGGCTCAGGACAAGGCCTCAGGTCGTGGGCCCAGCTCTGACAGGATGTGGAGTGGCCAGGACCAAGACAGCAAGCTACGCAATTGCAGCCACCCGGCCGCCAAGGCAGGCTTGGGCTGGGCCAGGACACGTGGGGTGCCTGGGACGCTGCTTGCCATGCACAGTGATCAGAGAGAGGCTGGGGTGTGTCCTGTCCGGGACCCCCCCTGCCTTCCTGCTCACCCTACTCTGACCTCCTTCACGTGCCCAGGCCTGTGGGTAGTGGGGAGGGCTGAACAGGACAACCTCTCATCACCCCCACTTTTGTTCCTTCCTGCTGGGCTGCCTCGTGCAGAGACACAGTGTAGGGGCCATGCAGCTGGCGTAGGTGGCAGTTGGGCCTGGTGAGGGTTAGGACTTCAGAAACCAGAGCACAAGCCCCACAGAGGGGGAACAGCCAGCACCGCTCTAGCTGGTTGTTGCCATGCCGGAATGTGGGCCTAGTGTTGCCAGATCTTCTGATTTTTCGAAAGAAACTAGAATGCTGGATTCTTAAGTGATATCTTCTGATTTTTTAAATGATAGCACCTAAATGAAACTTTCAAAAAGTATGGCAGGCCAGACAAAATGTGTCGTGGACCGCTCACATGTCACTTTTGGCTGAGGGGCAAGGGGACGGGTGAGTTACAAGCTGGCAAGGAATTGGGGTGGGGCGGGGACGACAAGTCCAGGGGGGAGGAGAAGCCAAAGGTGTGAGGGTTCCTGTACTACCTCCACCCCACCAAGGCTTCTGGGCAGCCCCCGAATGCCCTTCTGAGCAGTCTTACCACCTTCAGGCTCTCTCTGGGTAAGCTTCCTCCGGCCTCACTGAGACACGGAGGAGGGAGAGTGGCTGAGGAGATTCACCCACAGGACTGGAGAGAGGCAGGCAGGGCACTCAGCCGGTGCCTCGGGTCATGGCTTGAGTGGGGAGGAGAAGGGGAGAAGTGGGAGGATCCCTGTGGTGTTCCCTCAGCACAGAGGGATTACAGTGGTCACTGAATGCCCAGGAGCAGTGAGAAGACATGAACTGGGGAGTGCTCTTGGGGGAATCACTTGGAGGGAAGCCCAGAGCCCATGAGAGTGGGAGGCAAGGGACCCTGCATGTAGGCCACTCCAAGGCATTTGGCTGCCAAAGATGCAAGGCAGAAGGCAGAGGAGACCATCAGGCCCCAGTAATGTGGGTTTGTTTTAACACCAGGACACCTGGAGTCCTGAAGGAAGGGATTCCTGAGCACCATCCCAGAGCTCAGGAAGGTGGAATCCACAGCTCTGGTTCAAAA
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CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGTGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGGCACCCATGCAGCCCTGAGTCCGTGCTCTTTCCTCTCTTCCTCCCCAGGAGCAGTTCAAGGTGGACAGGGAGGGAGGCCTGAACACTGTGAAGTACCATGTGGCTTCCCGCACTGCCCTGTCTGTGGGCGGGGCCCCCTGCACTGTCCTCAACATCATGTTGGACTGTGACAAGACCGCCACACCCTGGTGCACATTCAGCTGAGCTGGATGGACAGTGAGGAAGCCTGTACCTACAGGCCATATTGCTCAGGCTCAGGACAAGGCCTCAGGTCGTGGGCCCAGCTCTGACAGGATGTGGAGTGGCCAGGACCAAGACAGCAAGCTACGCAATTGCAGCCACCCGGCCGCCAAGGCAGGCTTGGGCTGGGCCAGGACACGTGGGGTGCCTGGGACGCTGCTTGCCATGCACAGTGATCAGAGAGAGGCTGGGGTGTGTCCTGTCCGGGACCCCCCCTGCCTTCCTGCTCACCCTACTCTGACCTCCTTCACGTGCCCAGGCCTGTGGGTAGTGGGGAGGGCTGAACAGGACAACCTCTCATCACCCCCACTTTTGTTCCTTCCTGCTGGGCTGCCTCGTGCAGAGACACAGTGTAGGGGCCATGCAGCTGGCGTAGGTGGCAGTTGGGCCTGGTGAGGGTTAGGACTTCAGAAACCAGAGCACAAGCCCCACAGAGGGGGAACAGCCAGCACCGCTCTAGCTGGTTGTTGCCATGCCGGAATGTGGGCCTAGTGTTGCCAGATCTTCTGATTTTTCGAAAGAAACTAGAATGCTGGATTCTTAAGTGATATCTTCTGATTTTTTAAATGATAGCACCTAAATGAAACTTTCAAAAAGTATGGCAGGCCAGACAAAATGTGTCGTGGACCGCTCACATGTCACTTTTGGCTGAGGGGCAAGGGGACGGGTGAGTTACAAGCTGGCAAGGAATTGGGGTGGGGCGGGGACGACAAGTCCAGGGGGGAGGAGAAGCCAAAGGTGTGAGGGTTCCTGTACTACCTCCACCCCACCAAGGCTTCTGGGCAGCCCCCGAATGCCCTTCTGAGCAGTCTTACCACCTTCAGGCTCTCTCTGGGTAAGCTTCCTCCGGCCTCACTGAGACACGGAGGAGGGAGAGTGGCTGAGGAGATTCACCCACAGGACTGGAGAGAGGCAGGCAGGGCACTCAGCCGGTGCCTCGGGTCATGGCTTGAGTGGGGAGGAGAAGGGGAGAAGTGGGAGGATCCCTGTGGTGTTCCCTCAGCACAGAGGGATTACAGTGGTCACTGAATGCCCAGGAGCAGTGAGAAGACATGAACTGGGGAGTGCTCTTGGGGGAATCACTTGGAGGGAAGCCCAGAGCCCATGAGAGTGGGAGGCAAGGGACCCTGCATGTAGGCCACTCCAAGGCATTTGGCTGCCAAAGATGCAAGGCAGAAGGCAGAGGAGACCATCAGGCCCCAGTAATGTGGGTTTGTTTTAACACCAGGACACCTGGAGTCCTGAAGGAAGGGATTCCTGAGCACCATCCCAGAGCTCAGGAAGGTGGAATCCACAGCTCTGGTTCAAAA
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Task1_train_9897
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Located on Chromosome 5, this mutation impacts B4GALT7 (beta-1,4-galactosyltransferase 7). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Ehlers-Danlos syndrome, spondylodysplastic type, 1
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CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGCGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGGCACCCATGCAGCCCTGAGTCCGTGCTCTTTCCTCTCTTCCTCCCCAGGAGCAGTTCAAGGTGGACAGGGAGGGAGGCCTGAACACTGTGAAGTACCATGTGGCTTCCCGCACTGCCCTGTCTGTGGGCGGGGCCCCCTGCACTGTCCTCAACATCATGTTGGACTGTGACAAGACCGCCACACCCTGGTGCACATTCAGCTGAGCTGGATGGACAGTGAGGAAGCCTGTACCTACAGGCCATATTGCTCAGGCTCAGGACAAGGCCTCAGGTCGTGGGCCCAGCTCTGACAGGATGTGGAGTGGCCAGGACCAAGACAGCAAGCTACGCAATTGCAGCCACCCGGCCGCCAAGGCAGGCTTGGGCTGGGCCAGGACACGTGGGGTGCCTGGGACGCTGCTTGCCATGCACAGTGATCAGAGAGAGGCTGGGGTGTGTCCTGTCCGGGACCCCCCCTGCCTTCCTGCTCACCCTACTCTGACCTCCTTCACGTGCCCAGGCCTGTGGGTAGTGGGGAGGGCTGAACAGGACAACCTCTCATCACCCCCACTTTTGTTCCTTCCTGCTGGGCTGCCTCGTGCAGAGACACAGTGTAGGGGCCATGCAGCTGGCGTAGGTGGCAGTTGGGCCTGGTGAGGGTTAGGACTTCAGAAACCAGAGCACAAGCCCCACAGAGGGGGAACAGCCAGCACCGCTCTAGCTGGTTGTTGCCATGCCGGAATGTGGGCCTAGTGTTGCCAGATCTTCTGATTTTTCGAAAGAAACTAGAATGCTGGATTCTTAAGTGATATCTTCTGATTTTTTAAATGATAGCACCTAAATGAAACTTTCAAAAAGTATGGCAGGCCAGACAAAATGTGTCGTGGACCGCTCACATGTCACTTTTGGCTGAGGGGCAAGGGGACGGGTGAGTTACAAGCTGGCAAGGAATTGGGGTGGGGCGGGGACGACAAGTCCAGGGGGGAGGAGAAGCCAAAGGTGTGAGGGTTCCTGTACTACCTCCACCCCACCAAGGCTTCTGGGCAGCCCCCGAATGCCCTTCTGAGCAGTCTTACCACCTTCAGGCTCTCTCTGGGTAAGCTTCCTCCGGCCTCACTGAGACACGGAGGAGGGAGAGTGGCTGAGGAGATTCACCCACAGGACTGGAGAGAGGCAGGCAGGGCACTCAGCCGGTGCCTCGGGTCATGGCTTGAGTGGGGAGGAGAAGGGGAGAAGTGGGAGGATCCCTGTGGTGTTCCCTCAGCACAGAGGGATTACAGTGGTCACTGAATGCCCAGGAGCAGTGAGAAGACATGAACTGGGGAGTGCTCTTGGGGGAATCACTTGGAGGGAAGCCCAGAGCCCATGAGAGTGGGAGGCAAGGGACCCTGCATGTAGGCCACTCCAAGGCATTTGGCTGCCAAAGATGCAAGGCAGAAGGCAGAGGAGACCATCAGGCCCCAGTAATGTGGGTTTGTTTTAACACCAGGACACCTGGAGTCCTGAAGGAAGGGATTCCTGAGCACCATCCCAGAGCTCAGGAAGGTGGAATCCACAGCTCTGGTTCAAAA
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CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGTGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGGCACCCATGCAGCCCTGAGTCCGTGCTCTTTCCTCTCTTCCTCCCCAGGAGCAGTTCAAGGTGGACAGGGAGGGAGGCCTGAACACTGTGAAGTACCATGTGGCTTCCCGCACTGCCCTGTCTGTGGGCGGGGCCCCCTGCACTGTCCTCAACATCATGTTGGACTGTGACAAGACCGCCACACCCTGGTGCACATTCAGCTGAGCTGGATGGACAGTGAGGAAGCCTGTACCTACAGGCCATATTGCTCAGGCTCAGGACAAGGCCTCAGGTCGTGGGCCCAGCTCTGACAGGATGTGGAGTGGCCAGGACCAAGACAGCAAGCTACGCAATTGCAGCCACCCGGCCGCCAAGGCAGGCTTGGGCTGGGCCAGGACACGTGGGGTGCCTGGGACGCTGCTTGCCATGCACAGTGATCAGAGAGAGGCTGGGGTGTGTCCTGTCCGGGACCCCCCCTGCCTTCCTGCTCACCCTACTCTGACCTCCTTCACGTGCCCAGGCCTGTGGGTAGTGGGGAGGGCTGAACAGGACAACCTCTCATCACCCCCACTTTTGTTCCTTCCTGCTGGGCTGCCTCGTGCAGAGACACAGTGTAGGGGCCATGCAGCTGGCGTAGGTGGCAGTTGGGCCTGGTGAGGGTTAGGACTTCAGAAACCAGAGCACAAGCCCCACAGAGGGGGAACAGCCAGCACCGCTCTAGCTGGTTGTTGCCATGCCGGAATGTGGGCCTAGTGTTGCCAGATCTTCTGATTTTTCGAAAGAAACTAGAATGCTGGATTCTTAAGTGATATCTTCTGATTTTTTAAATGATAGCACCTAAATGAAACTTTCAAAAAGTATGGCAGGCCAGACAAAATGTGTCGTGGACCGCTCACATGTCACTTTTGGCTGAGGGGCAAGGGGACGGGTGAGTTACAAGCTGGCAAGGAATTGGGGTGGGGCGGGGACGACAAGTCCAGGGGGGAGGAGAAGCCAAAGGTGTGAGGGTTCCTGTACTACCTCCACCCCACCAAGGCTTCTGGGCAGCCCCCGAATGCCCTTCTGAGCAGTCTTACCACCTTCAGGCTCTCTCTGGGTAAGCTTCCTCCGGCCTCACTGAGACACGGAGGAGGGAGAGTGGCTGAGGAGATTCACCCACAGGACTGGAGAGAGGCAGGCAGGGCACTCAGCCGGTGCCTCGGGTCATGGCTTGAGTGGGGAGGAGAAGGGGAGAAGTGGGAGGATCCCTGTGGTGTTCCCTCAGCACAGAGGGATTACAGTGGTCACTGAATGCCCAGGAGCAGTGAGAAGACATGAACTGGGGAGTGCTCTTGGGGGAATCACTTGGAGGGAAGCCCAGAGCCCATGAGAGTGGGAGGCAAGGGACCCTGCATGTAGGCCACTCCAAGGCATTTGGCTGCCAAAGATGCAAGGCAGAAGGCAGAGGAGACCATCAGGCCCCAGTAATGTGGGTTTGTTTTAACACCAGGACACCTGGAGTCCTGAAGGAAGGGATTCCTGAGCACCATCCCAGAGCTCAGGAAGGTGGAATCCACAGCTCTGGTTCAAAA
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Task1_train_9898
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Gene B4GALT7 (beta-1,4-galactosyltransferase 7) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Lethal skeletal dysplasia
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CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGCGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGGCACCCATGCAGCCCTGAGTCCGTGCTCTTTCCTCTCTTCCTCCCCAGGAGCAGTTCAAGGTGGACAGGGAGGGAGGCCTGAACACTGTGAAGTACCATGTGGCTTCCCGCACTGCCCTGTCTGTGGGCGGGGCCCCCTGCACTGTCCTCAACATCATGTTGGACTGTGACAAGACCGCCACACCCTGGTGCACATTCAGCTGAGCTGGATGGACAGTGAGGAAGCCTGTACCTACAGGCCATATTGCTCAGGCTCAGGACAAGGCCTCAGGTCGTGGGCCCAGCTCTGACAGGATGTGGAGTGGCCAGGACCAAGACAGCAAGCTACGCAATTGCAGCCACCCGGCCGCCAAGGCAGGCTTGGGCTGGGCCAGGACACGTGGGGTGCCTGGGACGCTGCTTGCCATGCACAGTGATCAGAGAGAGGCTGGGGTGTGTCCTGTCCGGGACCCCCCCTGCCTTCCTGCTCACCCTACTCTGACCTCCTTCACGTGCCCAGGCCTGTGGGTAGTGGGGAGGGCTGAACAGGACAACCTCTCATCACCCCCACTTTTGTTCCTTCCTGCTGGGCTGCCTCGTGCAGAGACACAGTGTAGGGGCCATGCAGCTGGCGTAGGTGGCAGTTGGGCCTGGTGAGGGTTAGGACTTCAGAAACCAGAGCACAAGCCCCACAGAGGGGGAACAGCCAGCACCGCTCTAGCTGGTTGTTGCCATGCCGGAATGTGGGCCTAGTGTTGCCAGATCTTCTGATTTTTCGAAAGAAACTAGAATGCTGGATTCTTAAGTGATATCTTCTGATTTTTTAAATGATAGCACCTAAATGAAACTTTCAAAAAGTATGGCAGGCCAGACAAAATGTGTCGTGGACCGCTCACATGTCACTTTTGGCTGAGGGGCAAGGGGACGGGTGAGTTACAAGCTGGCAAGGAATTGGGGTGGGGCGGGGACGACAAGTCCAGGGGGGAGGAGAAGCCAAAGGTGTGAGGGTTCCTGTACTACCTCCACCCCACCAAGGCTTCTGGGCAGCCCCCGAATGCCCTTCTGAGCAGTCTTACCACCTTCAGGCTCTCTCTGGGTAAGCTTCCTCCGGCCTCACTGAGACACGGAGGAGGGAGAGTGGCTGAGGAGATTCACCCACAGGACTGGAGAGAGGCAGGCAGGGCACTCAGCCGGTGCCTCGGGTCATGGCTTGAGTGGGGAGGAGAAGGGGAGAAGTGGGAGGATCCCTGTGGTGTTCCCTCAGCACAGAGGGATTACAGTGGTCACTGAATGCCCAGGAGCAGTGAGAAGACATGAACTGGGGAGTGCTCTTGGGGGAATCACTTGGAGGGAAGCCCAGAGCCCATGAGAGTGGGAGGCAAGGGACCCTGCATGTAGGCCACTCCAAGGCATTTGGCTGCCAAAGATGCAAGGCAGAAGGCAGAGGAGACCATCAGGCCCCAGTAATGTGGGTTTGTTTTAACACCAGGACACCTGGAGTCCTGAAGGAAGGGATTCCTGAGCACCATCCCAGAGCTCAGGAAGGTGGAATCCACAGCTCTGGTTCAAAA
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CACCTCCACCCCCAGCAAGATCGCCCTCCTTGCCTGCTTTGCTTTTCCCCCCAGCACGAACCACTGCTGGCCACGCTTTGTGTTTGCTTGTTTCTGTTTCCTTCTATTGGAATCTCAGTTCCTTGAGAACAGGGCCTGGTTTTTCACTGCTGTACCTCCCGTGCTTTGAATGGTTTCTGGCACATAGTGGGTGCTTAGTAAATATGCGATGAGTGGAGGGACTGCCCCACAGGCTGAGTGAAGTCAGTGCTGGGCCAGAGGGCAGCATAGGCACCATGGGGACCCCCGGGTGGGTGCTGAGCCCCAGGCAGTGAGCCCGTGTGCTGCCCCTGCCCAGCCTTGCCCACCCTGCACAGGTTCAACCGGGCAGCGCTCATCAACGTGGGCTTCCTGGAGAGCAGCAACAGCACGGACTACATTGCCATGCACGACGTTGACCTGCTCCCTCTCAACGAGGAGCTGGACTATGGCTTTCCTGAGGCTGGGCCCTTCCACGTGGCCTCCCCGGAGCTCCACCCTCTCTACCACTACAAGACCTATGTCGGCGGCATCCTGCTGCTCTCCAAGCAGCACTACCGGCTGGTGAGGCCCGGACAGCCTGCTCTGCTCAGAGCCGGGAGCTCCCTCCAGGCTGCGGGTGGTGGGAAGGATGGGGCAGTGCCTCTGGGGCCCAGCAGATGGAGCCCTGCCCTGGCCTAGCAGGAGAACTTGGGAGCAGCCAGAGTGCGAAGAGCAGGCGAGCCAGTCAGCCGCAGCAGCAGAACTGCTTGCACGGGGGCTTCAGAAACCTGGGTGGTTAGTGGCCCTTAACACTGAAGAGTGTAGGGGCGGTTCAGGTGTACCTTGCCCACCTCTCAGACAGTGTCACCAGGACCCTGTTTCTCTGTGCATCTCCCAGCTCTCCTTCCCTGCACTGGGTTTATTGGCAAGGTGGTGGTTGTTACTGCAGTCTGTATCCATCTAGGCCCCGGGCTGGTGGGAGATGGGGCCCTTCCCTTGTAGCTCAGGCAGGAGTCCCGCAGTGAGCTGCACTGGCTCTTGATTGGCCGGCTTGAGTGCTGAGCCCACCCCTCAGCCAGTCACTGGCTGGTGGACGGGCAGGCAGGAAGAAGCACTTGTGGCTCAGGCCTGGGTGTCCTCCTCTCCAGGCCATGGCAGGGGCCAGCTTTATGTAAATGAAGCCCCTGAGCCAGGTGCAAGAATGGGTGTCTGTCATGGAACCCTGCTACCCCTCTCACACACACAGGAAGAGATGAGGGCAGGGCCACCAGGAGAAAGGGGAATGGGGGAAGCAGAAATCAAGTAGGAGCTGGCGCTTCTGCCCATCGACAGTTCCCCACAGAGATCCCCTCTGGGCAGCCAGCCGTTTTTGAGAAGGTGAGCCTCTCACACAGGTTCAAGGCCCCGTGAGAACGGGAGAGGGCCCGGGACGCGCTGCTTCCTGCCGCCCGCACTGCAGAAGTGCAGGAGCCTGCAAGCACCCGGGGCTTATTCAGAGGCGCTGGGGGAGAGGGGCACTCCCGAGCGGTAGGAGACCAAAGGCCCCCCCCCCCGGGAAGATGGGCCGAGTGACGCTGCTTGTCTCTGTGTCAGTGCAATGGGATGTCCAACCGCTTCTGGGGCTGGGGCCGCGAGGACGACGAGTTCTACCGGCGCATTAAGGGAGCTGGGCTCCAGGTGAGATTCCCCGGGCCCCGCCGCCACCTCAGCTGCGGTGGCTGCCCTGAGATTTTCTTCTGTTTCCTCAGATGAAGCTCCTGGGGTCTGGAGATGGCCCTGATTCTGATCCCTGCCCTAACCCTGCCCTGCATGGTCATCTAGCCAGTTCCTTGCCCTGTGGGCCCCAGTCTCCTCTCCTGCAGGCTGGGAGTGCAGGTCCCTTCCTGTGGGACCTCGGGAGCTGGTGGTGAGGGCTGGGGCTCCAGGAAGGGCAGCCTGACCCCGACTTCCTTGGACCTCCCTAGCTTTTCCGCCCCTCGGGAATCACAACTGGGTACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAGAGGGACCAGAAGTGCATCGCAGCTCAAAAACAGGTGCTGGCAGGGCTCCTCATTGGGGACAGATAGGTGGTCATGTGGGGAGCCAGCAGGCCCGGGCTTTCACCAAGTTCTCCTTGGCCCAAATGGTCCCATCCTCCCCTGCTTGGCCCAGGTCAGTCGACGGGCATTCTGCTTGGGCACCGTGCCCTGCTCTGGTGGCTGCTGTGGGCACCCTGGGCACTGTGGGTCAGCCCAGACCTCAGGGTCCATGCAGGCTGGCAGGGTGGGGTGGCGGAGGCGTAGCTGAAGGTGCCAGAATCCCAGCCACACCCGGGATGCAGGGATCCCACCCTCAAACAGCCCCTTCTCTAGGAGGCTTATGCATCCAACTGGAGATCCCGGCTCGCCTGCTTCCTAGTGGGGCACAGCCCTGGGCAAGAGGCTTCACTGCTTTGAGCTCTGGGTTCTTCCTCTCCAGTGGGGACCACAGGACCTCTGATGGCGAGGTTGTGTGGGGTCAGTGGGTAGCTGGCACCCATGCAGCCCTGAGTCCGTGCTCTTTCCTCTCTTCCTCCCCAGGAGCAGTTCAAGGTGGACAGGGAGGGAGGCCTGAACACTGTGAAGTACCATGTGGCTTCCCGCACTGCCCTGTCTGTGGGCGGGGCCCCCTGCACTGTCCTCAACATCATGTTGGACTGTGACAAGACCGCCACACCCTGGTGCACATTCAGCTGAGCTGGATGGACAGTGAGGAAGCCTGTACCTACAGGCCATATTGCTCAGGCTCAGGACAAGGCCTCAGGTCGTGGGCCCAGCTCTGACAGGATGTGGAGTGGCCAGGACCAAGACAGCAAGCTACGCAATTGCAGCCACCCGGCCGCCAAGGCAGGCTTGGGCTGGGCCAGGACACGTGGGGTGCCTGGGACGCTGCTTGCCATGCACAGTGATCAGAGAGAGGCTGGGGTGTGTCCTGTCCGGGACCCCCCCTGCCTTCCTGCTCACCCTACTCTGACCTCCTTCACGTGCCCAGGCCTGTGGGTAGTGGGGAGGGCTGAACAGGACAACCTCTCATCACCCCCACTTTTGTTCCTTCCTGCTGGGCTGCCTCGTGCAGAGACACAGTGTAGGGGCCATGCAGCTGGCGTAGGTGGCAGTTGGGCCTGGTGAGGGTTAGGACTTCAGAAACCAGAGCACAAGCCCCACAGAGGGGGAACAGCCAGCACCGCTCTAGCTGGTTGTTGCCATGCCGGAATGTGGGCCTAGTGTTGCCAGATCTTCTGATTTTTCGAAAGAAACTAGAATGCTGGATTCTTAAGTGATATCTTCTGATTTTTTAAATGATAGCACCTAAATGAAACTTTCAAAAAGTATGGCAGGCCAGACAAAATGTGTCGTGGACCGCTCACATGTCACTTTTGGCTGAGGGGCAAGGGGACGGGTGAGTTACAAGCTGGCAAGGAATTGGGGTGGGGCGGGGACGACAAGTCCAGGGGGGAGGAGAAGCCAAAGGTGTGAGGGTTCCTGTACTACCTCCACCCCACCAAGGCTTCTGGGCAGCCCCCGAATGCCCTTCTGAGCAGTCTTACCACCTTCAGGCTCTCTCTGGGTAAGCTTCCTCCGGCCTCACTGAGACACGGAGGAGGGAGAGTGGCTGAGGAGATTCACCCACAGGACTGGAGAGAGGCAGGCAGGGCACTCAGCCGGTGCCTCGGGTCATGGCTTGAGTGGGGAGGAGAAGGGGAGAAGTGGGAGGATCCCTGTGGTGTTCCCTCAGCACAGAGGGATTACAGTGGTCACTGAATGCCCAGGAGCAGTGAGAAGACATGAACTGGGGAGTGCTCTTGGGGGAATCACTTGGAGGGAAGCCCAGAGCCCATGAGAGTGGGAGGCAAGGGACCCTGCATGTAGGCCACTCCAAGGCATTTGGCTGCCAAAGATGCAAGGCAGAAGGCAGAGGAGACCATCAGGCCCCAGTAATGTGGGTTTGTTTTAACACCAGGACACCTGGAGTCCTGAAGGAAGGGATTCCTGAGCACCATCCCAGAGCTCAGGAAGGTGGAATCCACAGCTCTGGTTCAAAA
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Task1_train_9899
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This mutation occurs in PROP1 (PROP paired-like homeobox 1) on Chromosome 5. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Pituitary hormone deficiency, combined, 2
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CCCAGGAGGTGGAGCTTGCAGTGAGTCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCGCTGAGCTGACCCTCACCATGCATCTGCTTCACCCATAGATGGAAAGGAAGCCACCCCATTTTCTTGTCTTTTCACGAGGGCCGCAGGCTGGGGATCACCTTGGTGGTACTTGTTTGACCTCAGTTCCAGGACTTGGATGGCTCAAGGCTGAGGGGGAGCATGGGAGGGGGTGGGGGGCAGGGCAGATGGCCGGCAGGGGCTGGGTGCAAGGTAGGGTACCAGTCCTCAGACTGGTGTGACAAAGCAAAGGCGCCTCCTGTGGAGGGCTGGGAAGGGAGGGCATGGCTGTAGGGGTGAGGGAAGCAGGTCACTGGTGGTGGTGGTGCTGCGTAAGAATAGGGGCAAGCAGTGGACTCTGGCAAGAAGCTGGAAAAGGCGGCAGGAGACAGATGGGCCAGAGGCTGAAGCAGTGAGCGCTCTTGCTTCCGTTGCTTAGCTCTGCGGTTCTGGAACCAGACCTGAGAAGGGGTAGGAACCACATCAGAGCCCACACTTGACATAGGTGGTGACACCCTACTCCAATGACAAGAGGTGCAGGGACAGGGAGCAGGCTTCTCCAGCATGGCCAGAGGGAGTAAAGCTCTTCCACAAGGCTTGGCTGAGCCTGGTCTGCTGACAAAGGAACCCACAGACTTGTCCCCAGCCTCTGTCCACATGTGCCCTTTTCTAACACTCGGGGCAAGTAAGAAGTGTCAGCTTCCACCAAGGAGATAAATATGGTGACAATGACATTTCCCTTCCCCAGAGAATGGGAAATTTCCCCTAGGGTTAAGTTTAACGATTAAGACTGTAGATAAATGTAATTGCTATAGACAAGCTTGAATTTAGGGTAGGGTTTACACTTAAGGCTAACCAACCCTGGGGTTAGGATTGAGGGAGCATTTGGCTCATTGAGTTTCAAGGCTATGGTTAGGGACAAGCTTCTGTAAGAATATGGACAGTTAGGATTGAACTTCTGTTGGAATTGGCATCACTATTTTTTTTTTTTTGAGACAAAGTTTTGTTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTAATTATAGGCACCTGCCACTATGCCTGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTAACCAGGCTGGTCTCGAACTCTTAACCTCAGGTGATCCATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCCAGTGTCCCGGGCAAGACTCTCTCGGGCCCAGATGTCGGGGTACTGGTTCCTCCCAAAGGCTGACTCCAGCTGTTCCAACTGCACTGGGCTGAAGGTGGTGCGGTGGCGGCGCCGGGAGTGCGGGCGGCCCCTCTGTCCTCCTTGCGGGGAGAACCTTGATCTCCCCCCTCCTGCACCAGGGAGCCTTCTGCAGGGTGGAGCACTCGAGTCTGAGAACGGAGAGAAGGGAGGGGCGGCTTCTGAGGAGGACGCTCCTCGGTGCTGGACCACATGTGCCTGTCCCGGGATTGCGCTCAGTGCGTCCTGTGCTGCTCCAGTCTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGACTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCGAACCCCTGGGCTCCAGTGATCCTACTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCAACATACCCAGCTAATTAAAAAAATAAAAAATTAGAGATGGGGTCTTGCTATCTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCCATGTCAGCCTCTCAAAGTGCTGGGATTATAGGCCTGAGCCACCGCACCCAGCCCTGCCCCACCGGGAATCTTTTAGCTGCCATAGCCTGGTTCCTGCACCCTGCTCAGCCTCGGCCCCTGGTTGCCTCTGAGTCTCTGACACCAGGCTGTGCTGTCTACACAGGGCACACCCTCAGACTCATTCCTGGCCCTGGCACTCATGCACTGTCTACCTGGCAACTCTACTGTCTGCCCACTTCCTATTGCACTGCCAGACACATACCCCTCCATGTACGTTCACCCTTCTGGACACACACGACCACCTGGGGCTCACCCTGTGGGTCTGCTGTGTGCACCTGCACCCTAACAATCGTCCCAGCTGTCTACGGAAGACCCTAGTGCTTGTCCCCTGCTGGCGAGGCTCCTGTTCAACCTGTGCCTTCTTCAGACTGCTGCCATCTCCCGCACCCCTCACCTGGGAAGATGGGCACCCCCCTCTTCCGCTCAGACACACCCTCCCCTACTTACTTTTCATCTCCTCCCTACCCCTGCCCTGGCCCAGCCACCAGGCTGCAGGAACTTGAGCTCGTGGGAAAGGCTTGCCTTCCTCCCCACAGGCTCCCTAAGCCCCCACACTAATTAGTCTGAGAGCTGTTGGGGAGGAGAGAACGGGGAGGGAAAGGACACACCTGGAAGGCGCACACCAAGAAAAGATGTCTGGAGCCGAGGCACCATCCCCATGGGGCCCAAGGGCGTGGACCCTCCTAGAGCTCACTGTCCACCATGGGGGACACACACACGGAGCCCGCCCTCCCGCCCTGGACCCAAAGCCCTGGCCCCTCCAGCTCCCTTCATCAGAGAAGGCAGTGGCTTGGGCTAACCAACTCTGAGGTCAGGAGTGAGGGGACAGAGGTAACTGTCTCACATCCCCACTGCAATGTGAGCTGTTCAGCCGCCCCCTCCTGCCAAGGGCTCAGTTCCCCAGTCTGTAAAGCCAAGGGGTGCTCCAGTCCCTTTTACTTTCAAAGGTTCCCACAGTTTTAACATGATAGGATTCGGGTTTTAATTTCTCCTCCTAACCTTCTTCATGGAGCCTATGCTTTCAGCCTCACACCCGCTGCCTCCTCAGGGACCCACGCACACCGGGACGGTCACTCACCCACCGTGGTGGTCGGGGTCCCAGTGGCCGGGTGTCTCTCAGGCAACAGGTTGCTGCCGACTCGCCCCTTCTTTGGCTTCTCAGCCTGGCGCCTCCTTTCTGCTTCCATGGCTCGCCACGGGGACCAAGTGTCCCTGAATCTCTGACTTGAGATTTCTCTGCTTCCGCAGCTCCTCTCCACACCTGTTCCCTCCCCTTCTCCCTCTGTGTATGCCACCCTCTGGGACTCTGTCTCTGAATGTGTGTGTAGGTGCAGGCAGCTGTCTCTGACTTTTTCACTGTCTTTACTTTTTTTCTAATTGTTTCCTAATTCCCCCTTCCTTGGCTTGAGTGTCAGCTCAATCTCCTGCCTCAGCCTCACCTGTTGCTCTGTTTCTGACTACTTTTCTCTGCCTGGCCCTTCTCCCC
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CCCAGGAGGTGGAGCTTGCAGTGAGTCGAGATTGTGCCACTGGACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATTTCTAGGACAGAATAAACAAAAGTCAGTGACTGATTGAGATGGCGGGGTGGGCAATGGGGAAGGGATGTATAGGTAGACTCTTAAGTCAGAAGCCTTACTGAAATCAGCCAGAAAGAGCTGGGATCTTCTTCAATCGTGATCTCAATTAATGAAGGCCCTCACCTCCTAGCCCTTCAATCATCTCCACTCACCAGCAACTGTCTTCATCAATATCACCCTTCAGCAGGCAGCTCCACCGAGGCATCTTGCCCTGTCTCTTCCAGTAGCTCACCTCCCCAGACTTCCTCCACTAATCACCCCAGTGAGAATTCACCATGATCTCCCATTTTTAAATTTCTAATCGCTGAGCTGACCCTCACCATGCATCTGCTTCACCCATAGATGGAAAGGAAGCCACCCCATTTTCTTGTCTTTTCACGAGGGCCGCAGGCTGGGGATCACCTTGGTGGTACTTGTTTGACCTCAGTTCCAGGACTTGGATGGCTCAAGGCTGAGGGGGAGCATGGGAGGGGGTGGGGGGCAGGGCAGATGGCCGGCAGGGGCTGGGTGCAAGGTAGGGTACCAGTCCTCAGACTGGTGTGACAAAGCAAAGGCGCCTCCTGTGGAGGGCTGGGAAGGGAGGGCATGGCTGTAGGGGTGAGGGAAGCAGGTCACTGGTGGTGGTGGTGCTGCGTAAGAATAGGGGCAAGCAGTGGACTCTGGCAAGAAGCTGGAAAAGGCGGCAGGAGACAGATGGGCCAGAGGCTGAAGCAGTGAGCGCTCTTGCTTCCGTTGCTTAGCTCTGCGGTTCTGGAACCAGACCTGAGAAGGGGTAGGAACCACATCAGAGCCCACACTTGACATAGGTGGTGACACCCTACTCCAATGACAAGAGGTGCAGGGACAGGGAGCAGGCTTCTCCAGCATGGCCAGAGGGAGTAAAGCTCTTCCACAAGGCTTGGCTGAGCCTGGTCTGCTGACAAAGGAACCCACAGACTTGTCCCCAGCCTCTGTCCACATGTGCCCTTTTCTAACACTCGGGGCAAGTAAGAAGTGTCAGCTTCCACCAAGGAGATAAATATGGTGACAATGACATTTCCCTTCCCCAGAGAATGGGAAATTTCCCCTAGGGTTAAGTTTAACGATTAAGACTGTAGATAAATGTAATTGCTATAGACAAGCTTGAATTTAGGGTAGGGTTTACACTTAAGGCTAACCAACCCTGGGGTTAGGATTGAGGGAGCATTTGGCTCATTGAGTTTCAAGGCTATGGTTAGGGACAAGCTTCTGTAAGAATATGGACAGTTAGGATTGAACTTCTGTTGGAATTGGCATCACTATTTTTTTTTTTTTGAGACAAAGTTTTGTTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTAATTATAGGCACCTGCCACTATGCCTGGCTAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTAACCAGGCTGGTCTCGAACTCTTAACCTCAGGTGATCCATCCAGCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTATTGTGCCCAGCCGGAATTGGCATCACTATTAAATATTGAGGGTAGGTGTTGAAATTCAAGTTAGATTAGCTTATAGCTAGGGTTAAACTCAAGTGATATGATATTCTCAATGCAGTTGCTCTGATGCTGGTGGTGAGATGAGGCCTGTGTCTGGTGACCATTTAGGTTAGGGTTATAATGCCCAACATTCTATGATAGCACCAAAGAAATCTGCATTTCTTTCCTGAGAGAGGAGGATCCTGGAGCATCACCTGGATTCGGGCCTCACTGAGGCCAGTGTCCCGGGCAAGACTCTCTCGGGCCCAGATGTCGGGGTACTGGTTCCTCCCAGAGGCTGACTCCAGCTGTTCCAACTGCACTGGGCTGAAGGTGGTGCGGTGGCGGCGCCGGGAGTGCGGGCGGCCCCTCTGTCCTCCTTGCGGGGAGAACCTTGATCTCCCCCCTCCTGCACCAGGGAGCCTTCTGCAGGGTGGAGCACTCGAGTCTGAGAACGGAGAGAAGGGAGGGGCGGCTTCTGAGGAGGACGCTCCTCGGTGCTGGACCACATGTGCCTGTCCCGGGATTGCGCTCAGTGCGTCCTGTGCTGCTCCAGTCTTTTTTTGAGACAGAGTCTTGCTCTGTCTCCCAGACTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCGAACCCCTGGGCTCCAGTGATCCTACTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCAACATACCCAGCTAATTAAAAAAATAAAAAATTAGAGATGGGGTCTTGCTATCTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCCATGTCAGCCTCTCAAAGTGCTGGGATTATAGGCCTGAGCCACCGCACCCAGCCCTGCCCCACCGGGAATCTTTTAGCTGCCATAGCCTGGTTCCTGCACCCTGCTCAGCCTCGGCCCCTGGTTGCCTCTGAGTCTCTGACACCAGGCTGTGCTGTCTACACAGGGCACACCCTCAGACTCATTCCTGGCCCTGGCACTCATGCACTGTCTACCTGGCAACTCTACTGTCTGCCCACTTCCTATTGCACTGCCAGACACATACCCCTCCATGTACGTTCACCCTTCTGGACACACACGACCACCTGGGGCTCACCCTGTGGGTCTGCTGTGTGCACCTGCACCCTAACAATCGTCCCAGCTGTCTACGGAAGACCCTAGTGCTTGTCCCCTGCTGGCGAGGCTCCTGTTCAACCTGTGCCTTCTTCAGACTGCTGCCATCTCCCGCACCCCTCACCTGGGAAGATGGGCACCCCCCTCTTCCGCTCAGACACACCCTCCCCTACTTACTTTTCATCTCCTCCCTACCCCTGCCCTGGCCCAGCCACCAGGCTGCAGGAACTTGAGCTCGTGGGAAAGGCTTGCCTTCCTCCCCACAGGCTCCCTAAGCCCCCACACTAATTAGTCTGAGAGCTGTTGGGGAGGAGAGAACGGGGAGGGAAAGGACACACCTGGAAGGCGCACACCAAGAAAAGATGTCTGGAGCCGAGGCACCATCCCCATGGGGCCCAAGGGCGTGGACCCTCCTAGAGCTCACTGTCCACCATGGGGGACACACACACGGAGCCCGCCCTCCCGCCCTGGACCCAAAGCCCTGGCCCCTCCAGCTCCCTTCATCAGAGAAGGCAGTGGCTTGGGCTAACCAACTCTGAGGTCAGGAGTGAGGGGACAGAGGTAACTGTCTCACATCCCCACTGCAATGTGAGCTGTTCAGCCGCCCCCTCCTGCCAAGGGCTCAGTTCCCCAGTCTGTAAAGCCAAGGGGTGCTCCAGTCCCTTTTACTTTCAAAGGTTCCCACAGTTTTAACATGATAGGATTCGGGTTTTAATTTCTCCTCCTAACCTTCTTCATGGAGCCTATGCTTTCAGCCTCACACCCGCTGCCTCCTCAGGGACCCACGCACACCGGGACGGTCACTCACCCACCGTGGTGGTCGGGGTCCCAGTGGCCGGGTGTCTCTCAGGCAACAGGTTGCTGCCGACTCGCCCCTTCTTTGGCTTCTCAGCCTGGCGCCTCCTTTCTGCTTCCATGGCTCGCCACGGGGACCAAGTGTCCCTGAATCTCTGACTTGAGATTTCTCTGCTTCCGCAGCTCCTCTCCACACCTGTTCCCTCCCCTTCTCCCTCTGTGTATGCCACCCTCTGGGACTCTGTCTCTGAATGTGTGTGTAGGTGCAGGCAGCTGTCTCTGACTTTTTCACTGTCTTTACTTTTTTTCTAATTGTTTCCTAATTCCCCCTTCCTTGGCTTGAGTGTCAGCTCAATCTCCTGCCTCAGCCTCACCTGTTGCTCTGTTTCTGACTACTTTTCTCTGCCTGGCCCTTCTCCCC
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Subsets and Splits
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