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_11100
|
A mutation on Chromosome 7 affecting CDK13 (cyclin dependent kinase 13) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; not provided
|
CTAATGTATTAATTATTCTCATTCTTAGGTGCATTTTATCTGGTGTTTGAATATATGGACCATGATCTGATGGGACTACTGGAATCAGGCTTGGTTCATTTTAATGAAAATCACATAAAGTCATTTATGAGACAGCTCATGGAGGGTCTGGATTATTGTCATAAGAAGAACTTTTTGCATAGAGATATTAAATGTTCCAATATCCTTCTAAATAATAGGTATGGGTATGAACTTTATATATATTTAAAATGAGTTTTACCATGGACATGTACATGGAGAGAATAGACTGGAAACCGTAGCGGCGGGGAATGTCGGGGGTGGTGAGCGTTGAAAGTTACCTATTAGGTACAGTGTCCAACGTTTGGGTGATGGGTACCCCAGAAGCCTAACCCCTACTATTACACTTGTAATACCCATGTCACCAACAAACACATATACCCCCGAATCTAAAATTTTTAAAATAAAGATACGGTGTTACATGATGTTGCACCTTGATTATGTTAAAAAAGATTTAAAATTTAGTTTACTTTATACAAACTATGTAAAAATAATCAGGCCAGCCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGAGAAGTAGAGACGGGCGGATCACTTGAGACCAGGAGTTCATGACCAGCCTGGCCAACGTTGATGAAACCCTGTCTCTACCAAAAAAATAGAAAAGTTAGCCTAGCGTGGTGGAGCATGCCTGTGATGCCAGCTACACAGGAGGCTGAGGCATGAGAATTGCTTGAATCTAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTAGGTGACACAGCGAGACTCTGGCTCAAAAATAAAAATAAAAATAATCAACAATATTATAACTTGGGATACCTCAAAAGTTGTGTTACATAGCTGTTAGTGGCCGGGTGGGGCAGCTCAGCCTGTAATCCCAACACTTTGGGAGGATGAGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATAAACCCGGTGTGGTGGCACACACCCGTAATCCCAGCTGCTAGAAAGCCTGAGGAACGAGAATCGCTTGAATCCCAGAAGTGGAGTTGAGTGGAGTCAGTGAGCTGAGATAGTGCCACTGCACTCCAGCCTGGGTGACAAAGCAAGCAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTAATAATAGTCTGTAATGCATATAAAATAATACTTAGTTGACTTTTCTGTTTGCTATTATTCCAAGTAATGTGAATGGATCATCTGATAAGCAATGTAACTTCAGCTTTAGGTTAAGAATAGATTTTAGAAAATTTTAAAAAAGCAGTCACAGTTGTAAAGTGAACTTCTTGGAAGTGTGTACACACACATACACATTCACATATTTAAAACTTATGTAAATAAGCTTAGATTTGTAACATCTTATATTTGAACCCTGATAATTCTCTTGTAATTGGTACTGTTTGTTAATTTAAATAAGGCATGGCTGGTTCTCATTTTAATTAATAGACAGTGTTCTATGCACCTAGCCCCTCTAAAACTGGAGAATTAAACAAATTAAAAGTGATGTCACTTCGTTCTTGAGCACTGTTACCTTGAACAAGAAATTTGTCTTACTGCTAAGTAATAAAAAGGATCTCATTTTATTTTCATTGAAGTATGCTTTTCTAAATAGGAACTGAATAGTAATAAAATACTATTCTAATATTATAATACAGTAATTATAATAATCATATTACTATAATAATTTTAAGACTATCCAAGGATAGTTTACTTTCTTGTTTTGTGAATTTATCCACTACTTGCCTTTCCCTGTATTACCTTGATGATATTGCAGTGTGAGCAGAGTTAAAGTTTACATAGGTTTTTTTTTTTTAATCAGTTCTAGGCATAGAATATAAATGTGTATTGTCAATTAAGAGTAAATTAATACCTTTTGTTCATTTTGTCTTATTTCCACCAGAGGGCAGATAAAACTTGCAGACTTTGGACTTGCTCGATTGTATAGCTCAGAAGAAAGGTAAGCATACCTTCAAATGAATATTGTAGATACTAGAGTTTAGTATTAGAAGCTATACTAAGAATACCTTATTGATAGTTTTATTTTTTAAAAGAGAAGTTTACTTTTCATGGTTAGTACATAAAACATTGAAATTTTATACCATATTGGGTTGATTATTGTAATTACAATATTTTATACATTATCTCAATTTAAAAATTGATCTTCAACAGGTAAAAATGATTTTTTTAAATGAACATCTTTAAGTGTAACTGAAGTGAACTTAAATTTCTAATACGTATTCAGATATTAAATATTCTTAATGAAAACCTTTTAAATTGCATTTTTAAACTTATAAACTTTGGTTTCATTATTATTTTAGACAGATTTTATTGTTATATCTACAGTTCTTTGTTTTTTTAACTCCCTAGAACCCTTTATTTAAACCAACTGTTGGGAGGATGTTCACTGTATAAGACACAAAAATGTAGAACTTTTCTGGCTAAAGTTGGATTATATACCCAACTTGGCTTTCTTTGTGCCTGGTGGTAGTGAAATATGATTTGTCTTATTAAAACTAATATGGGATTTCAAAATAAAATATTTTTGTGCAATAGTAGGTTTTATGTAAATAAAATACGGAATTAATTTGGCTTAATAAATCTTTAGTCCATTTACCCCATTCCTTTTTTGTCTTTATTTCCATATGTGTATATATATATCTGAAATAATATAGTTAAAGAATTTTAAAATTATTTTATGACAATTTTGTCATTTCTTTAATATCACCATAATTTAATATAATGAAACATCAGTTGATTGCAGTCTTAGGAATAGATGTTTACTTTCATTTAATCTTTGCTTTTTTTGGTTAAAGCAATAAACAAAAACTCTCGTTTGAATTTTTCAGAGTAAAAAGTCTTATTTTGTTAAATCTTGCAGCGCCTGTGACATAATTCTGGAAAGTATTTTCCTTATATAGTGTTCTAGAGTAGAGGTTTATAAGTGATATGTTTTGGATCTATTCAAGTTCCATGAAACCCCTCAGAAAGTGTGCAGTGGGCCAGGCGCAGTGGCTCATGCTTGTACAAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGATCACTTGAGGGTCAGCACTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAGCTGGGCTTGGTGGTGCACGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGTACTCCAGCAAGACTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAGGGAGGAGAGAGGGAAGGAGGAAGGAAGGAAAGAGAGACAGAGAGAGAGAAAGGAAAGAAAGTGTTCTGTGGATGGGGTTTTGTGATTGGACCTCCAGTCCTCTGTACCAACTTTCACCAGAGTTACTTGGTTTTTATTTGTTTTAACTACTACACTTAAAATTAACATTTTATTTTAGGAAAGGGTTGTATGAGTGTTTTTTTTTTTTTGAAGTTTAAAACTGTTTTAAAGCTCAAAAGCTATGTCCCTCATTTTGCATTTGAGCGAATTGAGACCCAGAAAGGGCTGAGTTAGTTTCCTTTTTTAATTTTGAAATATGTATACATTGTGAAATGGCTACATTGAGCTAATTACTATGCATTACCCCACATTTTTTTTGTGTGTGCCAACACTTAAAAATCTACTCTCAACAATTTTCAAGAATACATTGTTATTAAGTGTAGCTGCCAAGTTGTACAATAAATCTCTTGAATTTACTTTTGTCTAACTGAACTTTTATATCCTTAGGCCAGCATCTTCCCCCCATACTCCCTATGCCCCGTATCTGGTAACTACCAGCTCTACTCTCTACCTCTATGAGTTGAGGTTTTTTAGATTTCACGTATAAGTGAAATGATGAGTTATTTGTCTTTATGTGCCTGCCTTATTCCACTTAACACAATGCGCTTCACGTTCATCCATGTTGTCATAAA
|
CTAATGTATTAATTATTCTCATTCTTAGGTGCATTTTATCTGGTGTTTGAATATATGGACCATGATCTGATGGGACTACTGGAATCAGGCTTGGTTCATTTTAATGAAAATCACATAAAGTCATTTATGAGACAGCTCATGGAGGGTCTGGATTATTGTCATAAGAAGAACTTTTTGCATAGAGATATTAAATGTTCCAATATCCTTCTAAATAATAGGTATGGGTATGAACTTTATATATATTTAAAATGAGTTTTACCATGGACATGTACATGGAGAGAATAGACTGGAAACCGTAGCGGCGGGGAATGTCGGGGGTGGTGAGCGTTGAAAGTTACCTATTAGGTACAGTGTCCAACGTTTGGGTGATGGGTACCCCAGAAGCCTAACCCCTACTATTACACTTGTAATACCCATGTCACCAACAAACACATATACCCCCGAATCTAAAATTTTTAAAATAAAGATACGGTGTTACATGATGTTGCACCTTGATTATGTTAAAAAAGATTTAAAATTTAGTTTACTTTATACAAACTATGTAAAAATAATCAGGCCAGCCACAGTGGCTCACGCCTGTAATCCCAGCACCTTGAGAAGTAGAGACGGGCGGATCACTTGAGACCAGGAGTTCATGACCAGCCTGGCCAACGTTGATGAAACCCTGTCTCTACCAAAAAAATAGAAAAGTTAGCCTAGCGTGGTGGAGCATGCCTGTGATGCCAGCTACACAGGAGGCTGAGGCATGAGAATTGCTTGAATCTAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTAGGTGACACAGCGAGACTCTGGCTCAAAAATAAAAATAAAAATAATCAACAATATTATAACTTGGGATACCTCAAAAGTTGTGTTACATAGCTGTTAGTGGCCGGGTGGGGCAGCTCAGCCTGTAATCCCAACACTTTGGGAGGATGAGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATAAACCCGGTGTGGTGGCACACACCCGTAATCCCAGCTGCTAGAAAGCCTGAGGAACGAGAATCGCTTGAATCCCAGAAGTGGAGTTGAGTGGAGTCAGTGAGCTGAGATAGTGCCACTGCACTCCAGCCTGGGTGACAAAGCAAGCAAGACTCGGTCTCAAAAAAAAAAAAAAAAAAAAAAATCTAATAATAGTCTGTAATGCATATAAAATAATACTTAGTTGACTTTTCTGTTTGCTATTATTCCAAGTAATGTGAATGGATCATCTGATAAGCAATGTAACTTCAGCTTTAGGTTAAGAATAGATTTTAGAAAATTTTAAAAAAGCAGTCACAGTTGTAAAGTGAACTTCTTGGAAGTGTGTACACACACATACACATTCACATATTTAAAACTTATGTAAATAAGCTTAGATTTGTAACATCTTATATTTGAACCCTGATAATTCTCTTGTAATTGGTACTGTTTGTTAATTTAAATAAGGCATGGCTGGTTCTCATTTTAATTAATAGACAGTGTTCTATGCACCTAGCCCCTCTAAAACTGGAGAATTAAACAAATTAAAAGTGATGTCACTTCGTTCTTGAGCACTGTTACCTTGAACAAGAAATTTGTCTTACTGCTAAGTAATAAAAAGGATCTCATTTTATTTTCATTGAAGTATGCTTTTCTAAATAGGAACTGAATAGTAATAAAATACTATTCTAATATTATAATACAGTAATTATAATAATCATATTACTATAATAATTTTAAGACTATCCAAGGATAGTTTACTTTCTTGTTTTGTGAATTTATCCACTACTTGCCTTTCCCTGTATTACCTTGATGATATTGCAGTGTGAGCAGAGTTAAAGTTTACATAGGTTTTTTTTTTTTAATCAGTTCTAGGCATAGAATATAAATGTGTATTGTCAATTAAGAGTAAATTAATACCTTTTGTTCATTTTGTCTTATTTCCACCAGAGGGCAGATAAAACTTGCAGACTTTGGACTTGCTCAATTGTATAGCTCAGAAGAAAGGTAAGCATACCTTCAAATGAATATTGTAGATACTAGAGTTTAGTATTAGAAGCTATACTAAGAATACCTTATTGATAGTTTTATTTTTTAAAAGAGAAGTTTACTTTTCATGGTTAGTACATAAAACATTGAAATTTTATACCATATTGGGTTGATTATTGTAATTACAATATTTTATACATTATCTCAATTTAAAAATTGATCTTCAACAGGTAAAAATGATTTTTTTAAATGAACATCTTTAAGTGTAACTGAAGTGAACTTAAATTTCTAATACGTATTCAGATATTAAATATTCTTAATGAAAACCTTTTAAATTGCATTTTTAAACTTATAAACTTTGGTTTCATTATTATTTTAGACAGATTTTATTGTTATATCTACAGTTCTTTGTTTTTTTAACTCCCTAGAACCCTTTATTTAAACCAACTGTTGGGAGGATGTTCACTGTATAAGACACAAAAATGTAGAACTTTTCTGGCTAAAGTTGGATTATATACCCAACTTGGCTTTCTTTGTGCCTGGTGGTAGTGAAATATGATTTGTCTTATTAAAACTAATATGGGATTTCAAAATAAAATATTTTTGTGCAATAGTAGGTTTTATGTAAATAAAATACGGAATTAATTTGGCTTAATAAATCTTTAGTCCATTTACCCCATTCCTTTTTTGTCTTTATTTCCATATGTGTATATATATATCTGAAATAATATAGTTAAAGAATTTTAAAATTATTTTATGACAATTTTGTCATTTCTTTAATATCACCATAATTTAATATAATGAAACATCAGTTGATTGCAGTCTTAGGAATAGATGTTTACTTTCATTTAATCTTTGCTTTTTTTGGTTAAAGCAATAAACAAAAACTCTCGTTTGAATTTTTCAGAGTAAAAAGTCTTATTTTGTTAAATCTTGCAGCGCCTGTGACATAATTCTGGAAAGTATTTTCCTTATATAGTGTTCTAGAGTAGAGGTTTATAAGTGATATGTTTTGGATCTATTCAAGTTCCATGAAACCCCTCAGAAAGTGTGCAGTGGGCCAGGCGCAGTGGCTCATGCTTGTACAAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGATCACTTGAGGGTCAGCACTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAGCTGGGCTTGGTGGTGCACGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCACTTAAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCACTGTACTCCAGCAAGACTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAGGGAGGAGAGAGGGAAGGAGGAAGGAAGGAAAGAGAGACAGAGAGAGAGAAAGGAAAGAAAGTGTTCTGTGGATGGGGTTTTGTGATTGGACCTCCAGTCCTCTGTACCAACTTTCACCAGAGTTACTTGGTTTTTATTTGTTTTAACTACTACACTTAAAATTAACATTTTATTTTAGGAAAGGGTTGTATGAGTGTTTTTTTTTTTTTGAAGTTTAAAACTGTTTTAAAGCTCAAAAGCTATGTCCCTCATTTTGCATTTGAGCGAATTGAGACCCAGAAAGGGCTGAGTTAGTTTCCTTTTTTAATTTTGAAATATGTATACATTGTGAAATGGCTACATTGAGCTAATTACTATGCATTACCCCACATTTTTTTTGTGTGTGCCAACACTTAAAAATCTACTCTCAACAATTTTCAAGAATACATTGTTATTAAGTGTAGCTGCCAAGTTGTACAATAAATCTCTTGAATTTACTTTTGTCTAACTGAACTTTTATATCCTTAGGCCAGCATCTTCCCCCCATACTCCCTATGCCCCGTATCTGGTAACTACCAGCTCTACTCTCTACCTCTATGAGTTGAGGTTTTTTAGATTTCACGTATAAGTGAAATGATGAGTTATTTGTCTTTATGTGCCTGCCTTATTCCACTTAACACAATGCGCTTCACGTTCATCCATGTTGTCATAAA
|
Task1_train_11101
|
A mutation in CDK13 (cyclin dependent kinase 13), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
|
GTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGCGCAGATCACCTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAGTACAAAAATTAGCCAGGAGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGTACTCCAGCCTGGGCGACAAGAGTGAGACTCCAGCGCAAAAAAAAAAAAGGGCGGGGGGGCTAAAGCATAAAGAGGTGAGCATAATTTTAAAGAATTACTAAGTTCAGTTTAACTAGAGTAGCTAAAATTTGAAAGACTTGCTCATTATGTGAAGATAAGTGATTCCAGTAAACAAGCAAAAATCACTGAGAAAAGTACATTAATAATGTTAGAAAAACCTAATCTTAATTTACTATTAAAAATATTCATCTTATTCTGTCCTCTTTTCACAGTTTTTACCAAAGTCAAATGTTTTTGCTAGCTTTGGAGCACTGTTAACTATAGTCCTATCTGTGGTAATGCTATAATGCCCAAATTGATAGTTTTATAATGCTAGTGCTTAAGTTATTTGGAGAAATTTGGCTGGATGGGGGCAGAGCAGGTCAGGCAGATCTTACACTGCCTGGAACTGCAAATCTATAGGTGGCAAGAGGGAATTGCTTTCTAAATTGAATGCTCCATTTCCTTAACAAGACTGGTCCAGGACCAAGCCAAGCTTAGGTAAATGGGCTTGGAATACAGCCTTTCTGGGGAATTTGCTATGGCTTTTGAGTCCTTGTGATTTGGAAAACATCTGGATATAAAGAGATGTTTATAGCTGATCTGAATATATATGTGATCTCCCTGAAGTAAGTAACTACAGATCAGCCGAAGAACCTCCTCTGACTACTTAGGATTCTCTTCAAGCGTGTCAATCAGCTAGAACGTGACCATTCTCTGAGCGTTGAACACTTTACATTGCCAGATAATTTGTGCTGTTTTCGTCAAACCTGACCCTAATATAACTTGACTAAATAATCTTGTCTGTGGCAAATAAAGAGGTAGCAGTATATTTATGTCCTCTTTTCGGAAGGTGATAAAGGAATTATTTGATAAAGTACGATATGTATTGCTACTTTGCAGAGTAGACCTCAAGTAGATACTTGAGTAGACACTCTGCATTTGTGTGCTTTTTTCTATTCACACACTACAGTGGGTATGTGAATCAGTGAAAAATTGCCAAAAATATGATCAATTGAAAACTTTTGTTAGGTGGTCTTTATTTGAACTATATCTTGTCATCCATTAGTAATTTAGCAAGATTTGATCAGAACCAGTCAACGCTCTTTAAATCAGTTAATCCCATTAAAGGTTTTTATGGAAAGGAAAAACAGTGCTCAACAATTGAGTTGATACTAAAGCTTTGCTTTGACCAAATTGCAGTTAATACCAGTAAACTACTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGACGCTATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACATCATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGGCTATGGGCACCCGTCACCACGCCTGGTTAATTTTTTTTTAGTACAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCAGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTATCAGTCAACTACTTTTTGTTTTTATCTTCATATATTAAGGGAATTTTTAGTTAAACAGGTTGCCCTCACATACATTTTATGATCTTATATTAGATACCTTTGGATGTCTGTATTTTTTAGTAGGCAGATGAAAGTGTTTTTAGTTAGGATTATAGGGATTGCTTTAGTAAAATAATATTTCCTCAGAGAATCTGTCTTACTCCAACAAATACTAACTCTAAAGACTGTTTTCTGTGTTTTTTAGTCGGCCGTATACTAACAAGGTAATTACTTTATGGTACCGTCCACCTGAACTGCTACTGGGAGAAGAACGATACACACCAGCCATTGATGTATGGAGCTGTGGGTAAGATAGCCTTATTTACTGGTTTATTTTACTTGAAACTTTTGGTAGTGAATTAAAATAGATCATTTGGTAATGACGGGTATTTTTTCCATTAGCTGTATCCTTGGCGAACTCTTCACTAAAAAACCTATATTTCAAGCAAATCAGGAACTTGCACAACTAGAATTAATAAGGTAAGCTGCTGATTATAATATTGGTGGGAATTGGGAGAGTGTCATACTCCACAGGAAATTTAAACTCTCCCAAGTTTGTCTTTTCAGGAAGAGAACAACATGGTTCTCTGGAGGGCTTATGACTGCTAAATGGAGGACAAACTGAAATGTAGGCACTTTGATACTTGTTCCAGTGAAATTAAGGATATCAAAGCCCCTGGGTGGGTGCATGTGTATGTGTACATGCGTGCGTGCATGTGTGCGTTTTTTTAAGTCAAAGGACTTGAGGCCCAAAAGATAAGACTGGCAAGGAAGAGTAAATGTAGGAGAGAATGAATGCTAGATACATATTTTTTAATTATGAAAGAAATGAAAAATTCATGTTTTGGGGTATTGTTTAAAAATACTCTTGTAAATACACATAAAAATATGTGTCTATATATGTGTGTATACACACTAAAATACATGCATATACCCCCTAGCGTAGACCTTCATTATTTGGAGCCTATCATAGGACCTAGTTCATAAGCAATTACTCATACATTTTAGTCGCTTTTCTCTTTATCTTTTATTTTATTTTATTATTTTATTTTTTTGAGATAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTCCACTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTCAGATTACGGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTGTAGCAGAGACGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTTCCAACCTCAGGTGACTGCCCCCCGCCTCGTTCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCTCATCCAGCCCGTCTTATATTTTAAAATAATTTTAATTTTAAAAATGGGCTTTGGCCAGGCACGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCCGGCGTGGTGGCCCACGCCTATAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGAAGGTTGCTGTGAGCCGAGATTGTGCCACGGCACTCCAGCCTGGGCAACAAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAAAAGGTGGGGGGGCTTCAGTTTCATATGTAATAATGTAAACGTGCAACTTATAAAATTTCCATGAAAGTTTCAAAATATATATGAAGTTTTTTAGGAAAGATATTGATAGGGGGTACAGATTTACAGAATTTTACTTTACCAACTGAACAAAATGAACATAAAGCAACAAATAGTAACCAGAGAAGGACCTCAACATCATATCATAAACAGACAAATTGAATCAAACTAAAAATCTTACTATTGCCCTTTTTGGTGGTTAGGCAAGGTTTTTACTATAGGGTACAGCAGGGAAAGATGAGTGCCCTAGTTAGAGCCTGCTTCTTCTCTGGGGATAACTTGGCTATAGTCAGAAGTACCCGAAGCCAGAAACTAGTAGTGCTTCAACTCCAAAGCAGCCAGTTGCCTCACTTTTAATAACATTATGAAAAAGAAGAAGGGAAGGGAAGGAGTTCACCTGAAACATAGAAAACTTTTATGTTACTTTTTTTTTTTTTTTTTCCTGTTTTTTGAGACAGTATCTCACTTTGTTGCCTAGGCTGGAGTGCATTGGGGCAGTCATGGCTCACTGCAGCCTTGACCTCCTGGAGCCAA
|
GTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGCGCAGATCACCTGAGGTCAGGAATTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAGTACAAAAATTAGCCAGGAGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGTACTCCAGCCTGGGCGACAAGAGTGAGACTCCAGCGCAAAAAAAAAAAAGGGCGGGGGGGCTAAAGCATAAAGAGGTGAGCATAATTTTAAAGAATTACTAAGTTCAGTTTAACTAGAGTAGCTAAAATTTGAAAGACTTGCTCATTATGTGAAGATAAGTGATTCCAGTAAACAAGCAAAAATCACTGAGAAAAGTACATTAATAATGTTAGAAAAACCTAATCTTAATTTACTATTAAAAATATTCATCTTATTCTGTCCTCTTTTCACAGTTTTTACCAAAGTCAAATGTTTTTGCTAGCTTTGGAGCACTGTTAACTATAGTCCTATCTGTGGTAATGCTATAATGCCCAAATTGATAGTTTTATAATGCTAGTGCTTAAGTTATTTGGAGAAATTTGGCTGGATGGGGGCAGAGCAGGTCAGGCAGATCTTACACTGCCTGGAACTGCAAATCTATAGGTGGCAAGAGGGAATTGCTTTCTAAATTGAATGCTCCATTTCCTTAACAAGACTGGTCCAGGACCAAGCCAAGCTTAGGTAAATGGGCTTGGAATACAGCCTTTCTGGGGAATTTGCTATGGCTTTTGAGTCCTTGTGATTTGGAAAACATCTGGATATAAAGAGATGTTTATAGCTGATCTGAATATATATGTGATCTCCCTGAAGTAAGTAACTACAGATCAGCCGAAGAACCTCCTCTGACTACTTAGGATTCTCTTCAAGCGTGTCAATCAGCTAGAACGTGACCATTCTCTGAGCGTTGAACACTTTACATTGCCAGATAATTTGTGCTGTTTTCGTCAAACCTGACCCTAATATAACTTGACTAAATAATCTTGTCTGTGGCAAATAAAGAGGTAGCAGTATATTTATGTCCTCTTTTCGGAAGGTGATAAAGGAATTATTTGATAAAGTACGATATGTATTGCTACTTTGCAGAGTAGACCTCAAGTAGATACTTGAGTAGACACTCTGCATTTGTGTGCTTTTTTCTATTCACACACTACAGTGGGTATGTGAATCAGTGAAAAATTGCCAAAAATATGATCAATTGAAAACTTTTGTTAGGTGGTCTTTATTTGAACTATATCTTGTCATCCATTAGTAATTTAGCAAGATTTGATCAGAACCAGTCAACGCTCTTTAAATCAGTTAATCCCATTAAAGGTTTTTATGGAAAGGAAAAACAGTGCTCAACAATTGAGTTGATACTAAAGCTTTGCTTTGACCAAATTGCAGTTAATACCAGTAAACTACTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGACGCTATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACATCATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGGCTATGGGCACCCGTCACCACGCCTGGTTAATTTTTTTTTAGTACAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCAGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTATCAGTCAACTACTTTTTGTTTTTATCTTCATATATTAAGGGAATTTTTAGTTAAACAGGTTGCCCTCACATACATTTTATGATCTTATATTAGATACCTTTGGATGTCTGTATTTTTTAGTAGGCAGATGAAAGTGTTTTTAGTTAGGATTATAGGGATTGCTTTAGTAAAATAATATTTCCTCAGAGAATCTGTCTTACTCCAACAAATACTAACTCTAAAGACTGTTTTCTGTGTTTTTTAGTCGGCCGTATACTAACAAGTTAATTACTTTATGGTACCGTCCACCTGAACTGCTACTGGGAGAAGAACGATACACACCAGCCATTGATGTATGGAGCTGTGGGTAAGATAGCCTTATTTACTGGTTTATTTTACTTGAAACTTTTGGTAGTGAATTAAAATAGATCATTTGGTAATGACGGGTATTTTTTCCATTAGCTGTATCCTTGGCGAACTCTTCACTAAAAAACCTATATTTCAAGCAAATCAGGAACTTGCACAACTAGAATTAATAAGGTAAGCTGCTGATTATAATATTGGTGGGAATTGGGAGAGTGTCATACTCCACAGGAAATTTAAACTCTCCCAAGTTTGTCTTTTCAGGAAGAGAACAACATGGTTCTCTGGAGGGCTTATGACTGCTAAATGGAGGACAAACTGAAATGTAGGCACTTTGATACTTGTTCCAGTGAAATTAAGGATATCAAAGCCCCTGGGTGGGTGCATGTGTATGTGTACATGCGTGCGTGCATGTGTGCGTTTTTTTAAGTCAAAGGACTTGAGGCCCAAAAGATAAGACTGGCAAGGAAGAGTAAATGTAGGAGAGAATGAATGCTAGATACATATTTTTTAATTATGAAAGAAATGAAAAATTCATGTTTTGGGGTATTGTTTAAAAATACTCTTGTAAATACACATAAAAATATGTGTCTATATATGTGTGTATACACACTAAAATACATGCATATACCCCCTAGCGTAGACCTTCATTATTTGGAGCCTATCATAGGACCTAGTTCATAAGCAATTACTCATACATTTTAGTCGCTTTTCTCTTTATCTTTTATTTTATTTTATTATTTTATTTTTTTGAGATAGAGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTCCACTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTCAGATTACGGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTGTAGCAGAGACGGGGTTTCACCATGTCGGCCAGGCTGGTCTTGAACTTCCAACCTCAGGTGACTGCCCCCCGCCTCGTTCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCTCATCCAGCCCGTCTTATATTTTAAAATAATTTTAATTTTAAAAATGGGCTTTGGCCAGGCACGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGTGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCCGGCGTGGTGGCCCACGCCTATAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGAAGGTTGCTGTGAGCCGAGATTGTGCCACGGCACTCCAGCCTGGGCAACAAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAAAAGGTGGGGGGGCTTCAGTTTCATATGTAATAATGTAAACGTGCAACTTATAAAATTTCCATGAAAGTTTCAAAATATATATGAAGTTTTTTAGGAAAGATATTGATAGGGGGTACAGATTTACAGAATTTTACTTTACCAACTGAACAAAATGAACATAAAGCAACAAATAGTAACCAGAGAAGGACCTCAACATCATATCATAAACAGACAAATTGAATCAAACTAAAAATCTTACTATTGCCCTTTTTGGTGGTTAGGCAAGGTTTTTACTATAGGGTACAGCAGGGAAAGATGAGTGCCCTAGTTAGAGCCTGCTTCTTCTCTGGGGATAACTTGGCTATAGTCAGAAGTACCCGAAGCCAGAAACTAGTAGTGCTTCAACTCCAAAGCAGCCAGTTGCCTCACTTTTAATAACATTATGAAAAAGAAGAAGGGAAGGGAAGGAGTTCACCTGAAACATAGAAAACTTTTATGTTACTTTTTTTTTTTTTTTTTCCTGTTTTTTGAGACAGTATCTCACTTTGTTGCCTAGGCTGGAGTGCATTGGGGCAGTCATGGCTCACTGCAGCCTTGACCTCCTGGAGCCAA
|
Task1_train_11102
|
This sequence change occurs on Chromosome 7, altering MPLKIP (M-phase specific PLK1 interacting protein). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; not provided
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TGAGGCATAGAGAAGTGAACTCATCCAGCTAGTAACTTGTAGAAACAGCATTTCCAAAATCCTGGCTTTCATGGAGCTTTTATTAATCTAAAAGCCTTCCATTCTTATTTTCTAGTCTCTGTGAAATACCTAATGAACAAATTTCTGTGGGTATGGTTCAAATAGGAGGTGTGACCATTTTGTTTTTACACGTTTCTTTCTGGGAATGTTGAAACAAAAGTTTTACTAGCTCTATCTTCGTATTTTGTAACTTCAAAATGCCTAGAGTCTGTGTTACATGTTAAAACACCTGATTTTGGCCGGGCATGGTGGCTCACGCCTGTAAACTCAGCACTGTGGGAGGCTGAGATGGGTGGATCATTTGAGATCATGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACTAAAAATACTAAAAATACTAAAAATACATGTTCTGGGCTGGGCACGGTGGCTCATGCCTGAAATCCCAGCACTTTGGGAAGCCAAGGTAGGGGATCACTTGAGACCAGGAGTTCAATCGAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTATTCAAAATACAAAAATGAGCCAGGCGCGTGCCTGTATTCCCAGCTACTCAGGAGGTCGAGGCGGGAGACTCGTATGAACCTGGGAGGCGGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCGTGGGCAACAGAGTGAGACCCTATTTCAAAAACAAAACAAAACAAACAAAAAAAACAAAACATGGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACATGTGCCTGTAGTCCCAGCTACTCAGGAGCCGAAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCTTGGGCAACAGACTCCATCTCAAAAAACAAACAAAAAACCACTTGATTTTTAAAAAATAGTTGGGGTAACAATTCTTCCATATTTTTCTCTCCAGAACTATAGGTATATATCCATAGCATCCCTTAATTTGGAAAACCACTTCTCTACTCCAGGTAGGCCCAGTGGTGTTCAAGGTCACAGAATCCTGTCTCATTATGGTGATGTGTCCATGATTCAAGTTAATTAGGTCTCACTGTGGCCTTGGCCACAGTTAATTGGTTCAATAATACAGAAACATGATCTAAGTATGGCAAATTTGTCTTCTCTTGGATTGATGGAGATGAGAGATGTTCTTTTTGCAATGGAAGTGATTTGAGGCTGCTGGTAGCTATCTTCTTTGGCCTCAAGAGAAACTAACTCCATAATGCTAAGAGGTATAGAGAAATTCAGATAGAACACTTTGATTTAGCAATGCATGGTCTATTCTTGCCTTTTCCAGTTAAATGAGTATAAAGTTATGCTTAAATGGGTTTCTGGGGCTTCAAGTTTTAATGCATTTTAACAGAAGCATTAGATAAAATGAGTATGAACAGAACTCTGTTATTCTCATCCTCATTATTTACGAACAAATACAGAGCTGTCTACAGCTCAAAGGATGGTTTACCTATTTCATTTTCAAAAATAATTTGCAAAACATTTACCTATGAACTCTAAGTGACTACAAAGCATTACTGTAGTAAGTCTACTTCTTTATCATACCACAAAACCACAATAGCTAGAAGACAAAATGTTTTATTTTAAAACATTGAAAAAACATTAAAAGACAAATGTCCATTATGTAACCAGGAATGTTAAATATATGGAAACGGTAAATCTCTAAAATGTGGTAGGTACTTCCAGAGCTAAATGTTGCAAGTTATCCTACTTTTTTCTCTAATATCAACAATACCTGATACGATGAAAAATAACAAAAAGACCTTACTAATTATCCAATCAAAGTCATCATCTTTGGGTAAATTTATATCAACACAACTTAAAGTTTTGTCCAAGATGTTCCTGACACATGAAGCTTCCAGTTGAATTTCAGAAATGTTAACAAAAGTATCTTCCTTTTTTGCCTGTGAATGTTTGAGTATTGCTGTATTGTTGGCTTATATCCACTACAGATACTGGTTCTAGGCCAGCCCAAGGATCTTCAAGCATTGAAGGCTTGAAATAATTTTCCAACTCATTAGACATTCTTTTTTCTCTAACACGCCCTGATCCAAATGGTGTAGATGTCCTTGGAGAACCCTTTAGAAAAAAAATCAGTTAAAAAAACACTTAGTAAAGATAATTGGTACTTCTTCCTTTAGCTAAAGGTTAGCGGGAATCACATTGCTGCTTAAAAGTTGTGACTTGAACCTAAATAATGTTCAATTACAAAGTCCATGCTTCCTTTAATCAAGTGTTCCTATTTTTTAAAAAAAGTACTTAAAGCAATTCGTTATTCTCATTTATTTATAATTCCATGACCACTGTCATCTCAAATACTTTTGTGTCTAATGTAGTAACTTTGCAGTAATTAAATACAAGCAGTGATGAAATCAAGTAATTATATTCAATTTTCCCTCGAAATTTTCACTTTTTTCAGGAGAAAACAATACTATAGTTTTAAAGTTTCTAGAACCTTTCTAGCTCATGAACATTTTCTTTACTCCTTAGCTCCAGGCTCAAAAGGGGTAGGGGGTTGGTGTAGAATACAGCAAGTTGGAAAACCACGTAGTTGCAAGTTGTAAACCACAGAAATCCCAGACATGCTAGAGATACTCTCTCTGTCTTTTGTATTTACTCTCACTAAAGGAATGGAAAACTTCCACTACCACCGATTTTCTTTTCAGGGAAGTTGGAGCAGAAGCCAGTGTAGCTCGAAAGAAAGATAAAAAAAAAAAAAAAAAAAAGAAAAAGAACTATTTCTTGAAACAAACTGGCAAGGCCTTTGGCAAACAGGAGGAAATGGAGAATTAGGAAAATCTGTGTACGGGTGGCAGTGTATTGGTTAAAAGCACGAGGGCTCGAAAACAGAACGTACGGCTCTGCCACTCTTTCGGATAATCTTCCGGAAGTCACTCAACTTCTCTAAGCCTCAGTTCGCTCATCTGCAAAATTGGGCTAACAATAGTACCTCAGAGAGGATTAGACAAAATAATCCACGTAAAGGGAATATTAGTACCGTGCCTGCCATAAAGTAAGAGCTCGGCAAACGCTGGCTATTATTATTACCTGGGGGTGGGTCTGCTGCTGCCCTGGGGAGTAGCCGAATTGCTGCTGGGACCCCGCGGGGGACCTGGAGTAGGAGCCAGGGTAGCCGCCAGGGGACGGAGACCCGAACCGGCCCCCCGGGAAGCTGCCGCCGTGTCGCGGAGAGTGACTGCTCCCGTACGGCCTAGACCGGGGCCCGTACGGCGGCGTGTGGTGCGGACTCCCGTACCCGTCTCGAGGGGAGGGCGGCCGTGGTCCGCCCCCGCCCGGGGTTCCCCGGAAGCTGCTTCCGCTACCCCAACCTCCTCCACCCGGACCAGGGTAAGGAGGAGTTGGGGGCCGAAAATTCTGTCGCTGCATATCAGGAGCCAAAGCCGAAAACCTCGCAGCCGCGTTCTCCCACCGGAACTGTATCAACCGGCCCTCCGCAGAGAACTGCTAGTCCTTTACCAAAACAGTCCTCCGACCGCAGCCACCCTACGGCACATCAGTTCCGGCGTCACAAAGGTTCCGCCAGGGGCGGCGGGATTACCTAAATCACTGACTTGGCGAGAGACTCAGTGGATTTAAGTGAAAAGAGGAAGAAAAGGAGACAGGAAAGGACGGACACCCAAGCCCAGCAACAACCTTTCCAGTCTGAGTGCCCTTGGTCTGACCGACAGACTAGAAGCTGGCCCAGCAGGCGACTAGTGCTCAGCCCCGCCCGGCGGGGGCGGGGTCTGCGGCGTCCGTGGGCGCCCCCCAGTGGCGGCGGGTGGCGCCGCACGGAGTTCGCCGCTTGCACCGGGACCGATGCCATCTGAGACGCACGCGATGCTGGCGACGCTGGCGAGGGTGGCAGCTCTGCGCAGAACCTGCCTCTTCTCCGGCCGGGGCGGCGGGAGGGGGCTGTGGACTGGCCGCCCGCAGTCAGGTACCCTCCGAGATTCGGTCTGGGTGGCTAAAGGGATCCCTGCCCCAGCTTGCCTCCTCGGGCGCCCTGAGGAGAGCAATTAGGGTCTGAAGTCTC
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TGAGGCATAGAGAAGTGAACTCATCCAGCTAGTAACTTGTAGAAACAGCATTTCCAAAATCCTGGCTTTCATGGAGCTTTTATTAATCTAAAAGCCTTCCATTCTTATTTTCTAGTCTCTGTGAAATACCTAATGAACAAATTTCTGTGGGTATGGTTCAAATAGGAGGTGTGACCATTTTGTTTTTACACGTTTCTTTCTGGGAATGTTGAAACAAAAGTTTTACTAGCTCTATCTTCGTATTTTGTAACTTCAAAATGCCTAGAGTCTGTGTTACATGTTAAAACACCTGATTTTGGCCGGGCATGGTGGCTCACGCCTGTAAACTCAGCACTGTGGGAGGCTGAGATGGGTGGATCATTTGAGATCATGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACTAAAAATACTAAAAATACTAAAAATACATGTTCTGGGCTGGGCACGGTGGCTCATGCCTGAAATCCCAGCACTTTGGGAAGCCAAGGTAGGGGATCACTTGAGACCAGGAGTTCAATCGAGACCAGCCTGGCCAACACGGTGAAACCCCATCTCTATTCAAAATACAAAAATGAGCCAGGCGCGTGCCTGTATTCCCAGCTACTCAGGAGGTCGAGGCGGGAGACTCGTATGAACCTGGGAGGCGGACGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCGTGGGCAACAGAGTGAGACCCTATTTCAAAAACAAAACAAAACAAACAAAAAAAACAAAACATGGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACATGTGCCTGTAGTCCCAGCTACTCAGGAGCCGAAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCTTGGGCAACAGACTCCATCTCAAAAAACAAACAAAAAACCACTTGATTTTTAAAAAATAGTTGGGGTAACAATTCTTCCATATTTTTCTCTCCAGAACTATAGGTATATATCCATAGCATCCCTTAATTTGGAAAACCACTTCTCTACTCCAGGTAGGCCCAGTGGTGTTCAAGGTCACAGAATCCTGTCTCATTATGGTGATGTGTCCATGATTCAAGTTAATTAGGTCTCACTGTGGCCTTGGCCACAGTTAATTGGTTCAATAATACAGAAACATGATCTAAGTATGGCAAATTTGTCTTCTCTTGGATTGATGGAGATGAGAGATGTTCTTTTTGCAATGGAAGTGATTTGAGGCTGCTGGTAGCTATCTTCTTTGGCCTCAAGAGAAACTAACTCCATAATGCTAAGAGGTATAGAGAAATTCAGATAGAACACTTTGATTTAGCAATGCATGGTCTATTCTTGCCTTTTCCAGTTAAATGAGTATAAAGTTATGCTTAAATGGGTTTCTGGGGCTTCAAGTTTTAATGCATTTTAACAGAAGCATTAGATAAAATGAGTATGAACAGAACTCTGTTATTCTCATCCTCATTATTTACGAACAAATACAGAGCTGTCTACAGCTCAAAGGATGGTTTACCTATTTCATTTTCAAAAATAATTTGCAAAACATTTACCTATGAACTCTAAGTGACTACAAAGCATTACTGTAGTAAGTCTACTTCTTTATCATACCACAAAACCACAATAGCTAGAAGACAAAATGTTTTATTTTAAAACATTGAAAAAACATTAAAAGACAAATGTCCATTATGTAACCAGGAATGTTAAATATATGGAAACGGTAAATCTCTAAAATGTGGTAGGTACTTCCAGAGCTAAATGTTGCAAGTTATCCTACTTTTTTCTCTAATATCAACAATACCTGATACGATGAAAAATAACAAAAAGACCTTACTAATTATCCAATCAAAGTCATCATCTTTGGGTAAATTTATATCAACACAACTTAAAGTTTTGTCCAAGATGTTCCTGACACATGAAGCTTCCAGTTGAATTTCAGAAATGTTAACAAAAGTATCTTCCTTTTTTGCCTGTGAATGTTTGAGTATTGCTGTATTGTTGGCTTATATCCACTACAGATACTGGTTCTAGGCCAGCCCAAGGATCTTCAAGCACTGAAGGCTTGAAATAATTTTCCAACTCATTAGACATTCTTTTTTCTCTAACACGCCCTGATCCAAATGGTGTAGATGTCCTTGGAGAACCCTTTAGAAAAAAAATCAGTTAAAAAAACACTTAGTAAAGATAATTGGTACTTCTTCCTTTAGCTAAAGGTTAGCGGGAATCACATTGCTGCTTAAAAGTTGTGACTTGAACCTAAATAATGTTCAATTACAAAGTCCATGCTTCCTTTAATCAAGTGTTCCTATTTTTTAAAAAAAGTACTTAAAGCAATTCGTTATTCTCATTTATTTATAATTCCATGACCACTGTCATCTCAAATACTTTTGTGTCTAATGTAGTAACTTTGCAGTAATTAAATACAAGCAGTGATGAAATCAAGTAATTATATTCAATTTTCCCTCGAAATTTTCACTTTTTTCAGGAGAAAACAATACTATAGTTTTAAAGTTTCTAGAACCTTTCTAGCTCATGAACATTTTCTTTACTCCTTAGCTCCAGGCTCAAAAGGGGTAGGGGGTTGGTGTAGAATACAGCAAGTTGGAAAACCACGTAGTTGCAAGTTGTAAACCACAGAAATCCCAGACATGCTAGAGATACTCTCTCTGTCTTTTGTATTTACTCTCACTAAAGGAATGGAAAACTTCCACTACCACCGATTTTCTTTTCAGGGAAGTTGGAGCAGAAGCCAGTGTAGCTCGAAAGAAAGATAAAAAAAAAAAAAAAAAAAAGAAAAAGAACTATTTCTTGAAACAAACTGGCAAGGCCTTTGGCAAACAGGAGGAAATGGAGAATTAGGAAAATCTGTGTACGGGTGGCAGTGTATTGGTTAAAAGCACGAGGGCTCGAAAACAGAACGTACGGCTCTGCCACTCTTTCGGATAATCTTCCGGAAGTCACTCAACTTCTCTAAGCCTCAGTTCGCTCATCTGCAAAATTGGGCTAACAATAGTACCTCAGAGAGGATTAGACAAAATAATCCACGTAAAGGGAATATTAGTACCGTGCCTGCCATAAAGTAAGAGCTCGGCAAACGCTGGCTATTATTATTACCTGGGGGTGGGTCTGCTGCTGCCCTGGGGAGTAGCCGAATTGCTGCTGGGACCCCGCGGGGGACCTGGAGTAGGAGCCAGGGTAGCCGCCAGGGGACGGAGACCCGAACCGGCCCCCCGGGAAGCTGCCGCCGTGTCGCGGAGAGTGACTGCTCCCGTACGGCCTAGACCGGGGCCCGTACGGCGGCGTGTGGTGCGGACTCCCGTACCCGTCTCGAGGGGAGGGCGGCCGTGGTCCGCCCCCGCCCGGGGTTCCCCGGAAGCTGCTTCCGCTACCCCAACCTCCTCCACCCGGACCAGGGTAAGGAGGAGTTGGGGGCCGAAAATTCTGTCGCTGCATATCAGGAGCCAAAGCCGAAAACCTCGCAGCCGCGTTCTCCCACCGGAACTGTATCAACCGGCCCTCCGCAGAGAACTGCTAGTCCTTTACCAAAACAGTCCTCCGACCGCAGCCACCCTACGGCACATCAGTTCCGGCGTCACAAAGGTTCCGCCAGGGGCGGCGGGATTACCTAAATCACTGACTTGGCGAGAGACTCAGTGGATTTAAGTGAAAAGAGGAAGAAAAGGAGACAGGAAAGGACGGACACCCAAGCCCAGCAACAACCTTTCCAGTCTGAGTGCCCTTGGTCTGACCGACAGACTAGAAGCTGGCCCAGCAGGCGACTAGTGCTCAGCCCCGCCCGGCGGGGGCGGGGTCTGCGGCGTCCGTGGGCGCCCCCCAGTGGCGGCGGGTGGCGCCGCACGGAGTTCGCCGCTTGCACCGGGACCGATGCCATCTGAGACGCACGCGATGCTGGCGACGCTGGCGAGGGTGGCAGCTCTGCGCAGAACCTGCCTCTTCTCCGGCCGGGGCGGCGGGAGGGGGCTGTGGACTGGCCGCCCGCAGTCAGGTACCCTCCGAGATTCGGTCTGGGTGGCTAAAGGGATCCCTGCCCCAGCTTGCCTCCTCGGGCGCCCTGAGGAGAGCAATTAGGGTCTGAAGTCTC
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Task1_train_11103
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This gene mutation involves GLI3 (GLI family zinc finger 3) on Chromosome 7. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Greig cephalopolysyndactyly syndrome, severe
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ATTGCTAAAATACATACAGAACTAAAAAAACAGCCAAAACAAAGTCAGTTTAATCTCTTCAACTCCTATTGATTTCCGTTGGTTGCAGTCTTTTTTTCCTAAAGCCTATTGCATAACTGCAAGGAATTTGCTTTCTTCCGCTAGGGAGGTCAGCAAAGAACTCATGTCCCCGATAGCCATGTTGGTGGTGCTCATGGACAGCGCTGGGAATGGGAGGGACGCCCGAGGCGTGGTGAGGCGGGAGGAGCTATGGGAAAGGTTCTGAATGATACTTGGGCTCAGGGCCCCCGACATCAGGCTGGAGTGGTCCCCATCGTCTATGATGGCATCGAAGTCAATCTGTACCCCTTCCAGGTCATGGCTGTCGAGGCTGTCCACTGTGCTTGTCACCTGATTAGCACCTGGGGAAAGTAACTCAGAGTTTTTGGCGCTGGTCCCCTGTAGCAGGCAGCTGGCGTCTGAAATAGAGAATGAACCAGCTTTCGTGTCTTGCTGACTGAAGCCCACGGTTTGGTCATAGAACTGACCAGAGTAATTCTGCAGATTAGAGCACAGCGGATGGGGCTGCCCTTTCATCTCCATCTTGATACCATTCACCCTGCAGGTCTGACTTGTGTCACTGAGCTGTCCTGACTGCAGAGCAAGGCTGTCCCTCGGCATAGCCTGGCGCCTGCTGCCCCCAAAGCTGGCACATGGCTGGTAGCCCCTGACAACTGCCAAGCTTGACGGCTGGCTGCCCATGCCGTGAGCCCCTGGCAGGCAGCTCTCTGGCCCTTGGTAGATGTTGATGTGTGAGGTAGCACTAATCTGCCCAAGCATCTGCTGACCGGGGCGGCCTGCCCCCGGGTGCTGCATGCTGTCGCCGAGGAGCTGGTGAGCCAGGTACCCCTGTCCCACTGGGTCCTGGTTCTGCATGCCATTCACCATGCTGCCAGCTGACTCATTTGGCGCTACCGGCAGGCCGAAATTCAGCTGGCCCCCGCTCCCTTGCATGGGGGTGCTCTTCAGCTTTGAGGCTTGAATCCCGGCACCACAGGCACCGTCGAGTGCACCAGGGGCCACTGGCTGCCTGTTGAGACAGTTCCCATACTGCGGGGCCTTACAGGGCTGTTCATGGAAGGCGTTTCCACTGGTGCCACTTCCGGGGCTGTTGTGGAGCATCAAGTGCTCTGGGCCACCGTAGGGGTTGCTGTTCTCCCCGAGGGTCTGATAGCCCCCAGCAGGCCCGCTCCTCAAGGGGTTCTGCGGGTGGACGACCATGCCGTTGCAGAACCCAAAGGCGCGAGTCTGCGGCACAGCGGGCCGCGGCCCACACTTGAGCTTGGAGGAGGACAGGTCGGCGCTTCCGGAGCTGACTTCGTTCCACTGAATGGGCAGGTCGGTTTTGCTGCCCTCGGGGCAGGGCTGCTCGAGGGCATGGAACTGCTGGCCAGCGTGGCTGTCTGGCAGCCCGGGCGCGTCAAAGTCACCGGGCCCGTGGGGCACTTTGCTGTCGTCCGGGAGGGCGCTGGGGAAGTGCTGCTCGTACCCTGCTTGGTTCTGGGAATTTAAATACTGCACCACGTCGTCCGGCAGGAAATCCTCATCGTTCAGGTTGGCATCAGCGTCCATGGTCAGGGACTCCAGGGTGACGTTCTCGGTGATGCTGGGAGGACAGGGGGACGAGTGGAAGTTTCGGGACTGGCCGCCCTCGGGCCGCGTGTAATTCTGAAGCACGAGACTGCGCTTCTCCGCGGACGTGGCCATCGCCGGGGGGTTGCAGCTGCTGAGGCTGCTGAAGCGCGGCACACGAGGCAGGGCCAGGCCCTCGGAGCCTGTCCGCACCGGGTCGCTGGCCCTCCTCACGCCGTGGCCCGGCGCATCGTGCGGCTGCAGGTGGCGCCGCCCGTAGCCGTGGGCTCCCCCGTCGCTGCACCTCCTCGGGGCATGAACTGGAGGCAGGGCCACGCCAGGCTCGAGGGCATCCCCGAGCAGCGCCAGGCGCGTCTTCAGGCTCATCCTCTCCATGTTGGGCAGGGGCGTCGGCGGCGGCCCTCCTGTGGCAGCCGCGTACTTGGCCTTGAGGCGGTACTGCTGGGCGGGCGTGAGGCTGAGCAGGCTGGGCAGGCCGTCGCTCTGGCTGGCTTCGCTGGAGCGGCGCGAGGCGTCGGTGGAGATGGGGTCGTAGGAGTCGGCCACGCTCACGTTCTGCGGCCGGCCCTCGGCCTGTGACGCCTCGCTGGAGCGGCGGCTGGAGAAGCAGGGCGAGATCCCTGAGGAGCGGCGGCTGCTCAGGTAGGCCGAGCTGATGGTGCTGGCGCTGCTGTCCCTTCTGTTGAGCATGTTCAGCATAGTGACGTCCACCCCAGAGAGGTCGCTTCTGCCCGGGAGAAGCGTCATGGGCCCACCCAAGCTGCAGGTGTTGTTGGACTGTGTGCCTGGAGACAGAGAAAGGGAGAGACCATGCGGAGATGAATTCCCTTCGAGCATGACTTACACCAGGCATGAGCAACCCTTTTCTGTAAAGGGCCAGCTAGGAACTATTTCTGGTGTCCCAGGCCACATTGCCTGCCTCACAACTACTCAGCTCTGCAGTGTAGCCCCAACACGGCCACAGAGAGCAGTGAGCAAGCAAGCGTGGCGGGGTGTCCATGAAGCTTCCTTTACAAAAACAGGGGCGGCTGGAGATGGCCGCAGGCTGTAGTTTGCTGATGCCTGGCTTAAACAAAACAATAACAACTCCCTCGATTCACTGAAGCCCCTCCCCAAGCGCTGTGCAAGGACAAAAAGAATCTTGTGATGGTACACAACGCTTGAGTTCCAGGCAAGTCCCCAGGCAAAGGTACTCCACGAGTTTCACATTCACGCTCAGGGCGTCCTGTTCATGCCACATCCTACCAACAGGTAACACCTGTGTTGGTGCAGGCAAGAGCTTCACCCCTTAGGTGCTCTCAGAAGTGTAATCTCAGAAGTGCAAACTGACCTGGGGACTGACAGTGGGGAGGGATTTCTGACTTTCCTTGAACTGGGTAAATATAAATAAAAGTGGCTGCTAACCTCGTGGTTTTAAATTTTGGAAACCAGAGACAGAGTTCCAACCACAGATGCCTCCACTGCTGGCATTCCCTTACCCTAATCTAACAGTTATGATTTCACCATCAGAATATGAGTCATGCACAGTCACATTTTTTTCTCAATATTATCCTGTTCCTAGCTGTTTTTAAAATATGGACAATCCCAAAAGGCAACTTGAATGGGCTAAACATTAACGGATGGTTACAGCGTCATTTTAGGACTGGTGGAGAAACTAGCAAACATAAAACTGAGGGCCTGCATTTAAAAGAACAGAAAAAAAAACCCTGAGCAGATGCATGGTCTGATGTAGAACTCACCATTTCCTATGAGAGGAGAGACCGCAGGGGCTTTAGGGGGTAGAATGGGGTTCAGTCGCGGAAACATTCCATTCACTTGTTTTAGCCTTTCTAGTTTTACGTGCTCCATCCATTTGGTCCCTGCCGGGTTTCTCCTGGCTTGCAAAGCAAGGGCTGTGGTTGCAGTGGAAATGGTTGAGTCCATGATTGGGGTTTCATCGATGGCACTGAGGTCTCCTATACTACCTCCATCGGTCAGAGGAAGCTCGAGCCCACTGTTGGAATAGTTGCTGATGGGGGACTGTTGGCTGCTGCATGAAGACTGACCACCAGGGCTTGGCTGAGATGTCTGTTGGGGTCAAGTGGAAAGGAAAGAAATGTCACCAGGGAGGGTCAAGGAAAGGGAGCCAATAATGAGAGCTCATGCATATCGAGATCTTCAAGATCATCAGTTGGTTGAATGAGAAGAAAAACTATGTTCTGGTGAATGGAGCTGGCCACTTTTGGCCAGAATGACGGATGGACCACCAGGCTGATGGGCAACAGGAGGCAATGGAAAGCAGAGAATGCTAGCTGCAGTGTGACTGGCATGGTATCAGCCATGGAATCCTGCCCCAATCGCCAACTCTGCAGACATACTTCCTCGGTTCCAATCCCATCTCCACCACTTTATTCTTTGGGCACATTACTTAGCCACTCTAAACCTCAGTTTCCTTATCTATAAAACAGGGACCATTTATTTCAGG
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ATTGCTAAAATACATACAGAACTAAAAAAACAGCCAAAACAAAGTCAGTTTAATCTCTTCAACTCCTATTGATTTCCGTTGGTTGCAGTCTTTTTTTCCTAAAGCCTATTGCATAACTGCAAGGAATTTGCTTTCTTCCGCTAGGGAGGTCAGCAAAGAACTCATGTCCCCGATAGCCATGTTGGTGGTGCTCATGGACAGCGCTGGGAATGGGAGGGACGCCCGAGGCGTGGTGAGGCGGGAGGAGCTATGGGAAAGGTTCTGAATGATACTTGGGCTCAGGGCCCCCGACATCAGGCTGGAGTGGTCCCCATCGTCTATGATGGCATCGAAGTCAATCTGTACCCCTTCCAGGTCATGGCTGTCGAGGCTGTCCACTGTGCTTGTCACCTGATTAGCACCTGGGGAAAGTAACTCAGAGTTTTTGGCGCTGGTCCCCTGTAGCAGGCAGCTGGCGTCTGAAATAGAGAATGAACCAGCTTTCGTGTCTTGCTGACTGAAGCCCACGGTTTGGTCATAGAACTGACCAGAGTAATTCTGCAGATTAGAGCACAGCGGATGGGGCTGCCCTTTCATCTCCATCTTGATACCATTCACCCTGCAGGTCTGACTTGTGTCACTGAGCTGTCCTGACTGCAGAGCAAGGCTGTCCCTCGGCATAGCCTGGCGCCTGCTGCCCCCAAAGCTGGCACATGGCTGGTAGCCCCTGACAACTGCCAAGCTTGACGGCTGGCTGCCCATGCCGTGAGCCCCTGGCAGGCAGCTCTCTGGCCCTTGGTAGATGTTGATGTGTGAGGTAGCACTAATCTGCCCAAGCATCTGCTGACCGGGGCGGCCTGCCCCCGGGTGCTGCATGCTGTCGCCGAGGAGCTGGTGAGCCAGGTACCCCTGTCCCACTGGGTCCTGGTTCTGCATGCCATTCACCATGCTGCCAGCTGACTCATTTGGCGCTACCGGCAGGCCGAAATTCAGCTGGCCCCCGCTCCCTTGCATGGGGGTGCTCTTCAGCTTTGAGGCTTGAATCCCGGCACCACAGGCACCGTCGAGTGCACCAGGGGCCACTGGCTGCCTGTTGAGACAGTTCCCATACTGCGGGGCCTTACAGGGCTGTTCATGGAAGGCGTTTCCACTGGTGCCACTTCCGGGGCTGTTGTGGAGCATCAAGTGCTCTGGGCCACCGTAGGGGTTGCTGTTCTCCCCGAGGGTCTGATAGCCCCCAGCAGGCCCGCTCCTCAAGGGGTTCTGCGGGTGGACGACCATGCCGTTGCAGAACCCAAAGGCGCGAGTCTGCGGCACAGCGGGCCGCGGCCCACACTTGAGCTTGGAGGAGGACAGGTCGGCGCTTCCGGAGCTGACTTCGTTCCACTGAATGGGCAGGTCGGTTTTGCTGCCCTCGGGGCAGGGCTGCTCGAGGGCATGGAACTGCTGGCCAGCGTGGCTGTCTGGCAGCCCGGGCGCGTCAAAGTCACCGGGCCCGTGGGGCACTTTGCTGTCGTCCGGGAGGGCGCTGGGGAAGTGCTGCTCGTACCCTGCTTGGTTCTGGGAATTTAAATACTGCACCACGTCGTCCGGCAGGAAATCCTCATCGTTCAGGTTGGCATCAGCGTCCATGGTCAGGGACTCCAGGGTGACGTTCTCGGTGATGCTGGGAGGACAGGGGGACGAGTGGAAGTTTCGGGACTGGCCGCCCTCGGGCCGCGTGTAATTCTGAAGCACGAGACTGCGCTTCTCCGCGGACGTGGCCATCGCCGGGGGGTTGCAGCTGCTGAGGCTGCTGAAGCGCGGCACACGAGGCAGGGCCAGGCCCTCGGAGCCTGTCCGCACCGGGTCGCTGGCCCTCCTCACGCCGTGGCCCGGCGCATCGTGCGGCTGCAGGTGGCGCCGCCCGTAGCCGTGGGCTCCCCCGTCGCTGCACCTCCTCGGGGCATGAACTGGAGGCAGGGCCACGCCAGGCTCGAGGGCATCCCCGAGCAGCGCCAGGCGCGTCTTCAGGCTCATCCTCTCCATGTTGGGCAGGGGCGTCGGCGGCGGCCCTCCTGTGGCAGCCGGGTACTTGGCCTTGAGGCGGTACTGCTGGGCGGGCGTGAGGCTGAGCAGGCTGGGCAGGCCGTCGCTCTGGCTGGCTTCGCTGGAGCGGCGCGAGGCGTCGGTGGAGATGGGGTCGTAGGAGTCGGCCACGCTCACGTTCTGCGGCCGGCCCTCGGCCTGTGACGCCTCGCTGGAGCGGCGGCTGGAGAAGCAGGGCGAGATCCCTGAGGAGCGGCGGCTGCTCAGGTAGGCCGAGCTGATGGTGCTGGCGCTGCTGTCCCTTCTGTTGAGCATGTTCAGCATAGTGACGTCCACCCCAGAGAGGTCGCTTCTGCCCGGGAGAAGCGTCATGGGCCCACCCAAGCTGCAGGTGTTGTTGGACTGTGTGCCTGGAGACAGAGAAAGGGAGAGACCATGCGGAGATGAATTCCCTTCGAGCATGACTTACACCAGGCATGAGCAACCCTTTTCTGTAAAGGGCCAGCTAGGAACTATTTCTGGTGTCCCAGGCCACATTGCCTGCCTCACAACTACTCAGCTCTGCAGTGTAGCCCCAACACGGCCACAGAGAGCAGTGAGCAAGCAAGCGTGGCGGGGTGTCCATGAAGCTTCCTTTACAAAAACAGGGGCGGCTGGAGATGGCCGCAGGCTGTAGTTTGCTGATGCCTGGCTTAAACAAAACAATAACAACTCCCTCGATTCACTGAAGCCCCTCCCCAAGCGCTGTGCAAGGACAAAAAGAATCTTGTGATGGTACACAACGCTTGAGTTCCAGGCAAGTCCCCAGGCAAAGGTACTCCACGAGTTTCACATTCACGCTCAGGGCGTCCTGTTCATGCCACATCCTACCAACAGGTAACACCTGTGTTGGTGCAGGCAAGAGCTTCACCCCTTAGGTGCTCTCAGAAGTGTAATCTCAGAAGTGCAAACTGACCTGGGGACTGACAGTGGGGAGGGATTTCTGACTTTCCTTGAACTGGGTAAATATAAATAAAAGTGGCTGCTAACCTCGTGGTTTTAAATTTTGGAAACCAGAGACAGAGTTCCAACCACAGATGCCTCCACTGCTGGCATTCCCTTACCCTAATCTAACAGTTATGATTTCACCATCAGAATATGAGTCATGCACAGTCACATTTTTTTCTCAATATTATCCTGTTCCTAGCTGTTTTTAAAATATGGACAATCCCAAAAGGCAACTTGAATGGGCTAAACATTAACGGATGGTTACAGCGTCATTTTAGGACTGGTGGAGAAACTAGCAAACATAAAACTGAGGGCCTGCATTTAAAAGAACAGAAAAAAAAACCCTGAGCAGATGCATGGTCTGATGTAGAACTCACCATTTCCTATGAGAGGAGAGACCGCAGGGGCTTTAGGGGGTAGAATGGGGTTCAGTCGCGGAAACATTCCATTCACTTGTTTTAGCCTTTCTAGTTTTACGTGCTCCATCCATTTGGTCCCTGCCGGGTTTCTCCTGGCTTGCAAAGCAAGGGCTGTGGTTGCAGTGGAAATGGTTGAGTCCATGATTGGGGTTTCATCGATGGCACTGAGGTCTCCTATACTACCTCCATCGGTCAGAGGAAGCTCGAGCCCACTGTTGGAATAGTTGCTGATGGGGGACTGTTGGCTGCTGCATGAAGACTGACCACCAGGGCTTGGCTGAGATGTCTGTTGGGGTCAAGTGGAAAGGAAAGAAATGTCACCAGGGAGGGTCAAGGAAAGGGAGCCAATAATGAGAGCTCATGCATATCGAGATCTTCAAGATCATCAGTTGGTTGAATGAGAAGAAAAACTATGTTCTGGTGAATGGAGCTGGCCACTTTTGGCCAGAATGACGGATGGACCACCAGGCTGATGGGCAACAGGAGGCAATGGAAAGCAGAGAATGCTAGCTGCAGTGTGACTGGCATGGTATCAGCCATGGAATCCTGCCCCAATCGCCAACTCTGCAGACATACTTCCTCGGTTCCAATCCCATCTCCACCACTTTATTCTTTGGGCACATTACTTAGCCACTCTAAACCTCAGTTTCCTTATCTATAAAACAGGGACCATTTATTTCAGG
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Task1_train_11104
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Gene GLI3 (GLI family zinc finger 3), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Pallister-Hall syndrome
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TGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATAAACCGTTGAATGTTCTGTACAATTATTATACAGGTAGGCTTTATTTTAAGAATAGACATGTGCTCCCCTTCAAAAAAAGTATATAAAACACAGTTTATGAACTGATTAAAATACAGTGATCAACCATAATGTATAAACATCTTATTAAGATACTTTTTTAAAGCAAAGTACAGCTACCCACTGATAAATCATGATAAATCTGCATAGCTGATTTGTGTTATTTTTGGCTAGACTTAATGTCACTCTCTAAGACTCTTAAGAATTCAAAGACAAACTCAGTAAGTCATTAAAACATAGCTTCTCACCGTCTCAATGGTAAGATTGTGCATTATTTCCCACCCACACGTACTGTGACATCACTCATGAATTCATAGGCTCTCCATCCGATAGACTGCTCTAATTTTAAGAAAATGCTGGCTTTAAGTATAAATCTGTTTGCCTGATTGTTTCCGTGCATCCGGCAGTCTGAGCATGAAACTTCTCTCTGGTACACTTCCTTCACAGGTTAGAGAGTGACAGCCCAGAACCCAATATATTTGCACAATTAAATCCATTCTACGCATGGCCAGATGGGCTGAATCTCCTCTACTATACTATCTACTCTTAATTTTTCTTGTTGTCTTTGAAATTTTTAGGTGTTTTATAAAATCACATTCATGAAGCGAAGTCACGAACTGAGGTTTGAAAGAAGCTGAAAGAGTAGCAGAGCCCACATGTCCTATTAGTCTCCAAACACAAAGATTGCCTACTGAATCTTCCAGATCCCTCTCTCATGCTCTGCCTTACTGGTTCAGGCCCAACTGCAGAAGTGGTCTCCAGTTTACCCAGTTTCTAGACTGGTACTGGAGTGGTTTCCTCAAAAAACAAGAACAAAAAAACAAACAAAAAAACTCACCCCTGCTATGCTGTTCCCCTCCCACCCCTGTGCTCCTCTGCCTCCTCATCCTCCTCAGCTCTTCCCTCTGGAGCACTGAACTCCTGTCCCATGGCTTCCTCTGCCCCGACTGACCGGCAGTCCGTCCCTCTCCTGAATCCTCTTTACACAGACTTGTGTGTAAGCCTCCATCACACTGCACGGTATTTGTTTTTCAGTCTATCTATCCCACTGGACTGTAAACTCCTAAAGAATATGGGCCATGGCCTATTTACCTTGGGGTCACCAGGGCAAAGAAGACAGAAAGCATGTTTACAGGAAGAGTCAATGAATGATTTTCGACATTACAGACACGCTGGAGAGACAGACAGTCGTGTCTTTCTTCCTTCCATGGCACAGTGGTATGGTTCTGGGAGGGATTTTAAAAATCAGTTAGGAAACCTGGAAACTCTTTTTCTGAGCTGATCGACTTCACGTAAGCAATACGGGTCACTGCCCTCATCGCCTCCTCAGATCAGAGACAGCCTGACACAGTGAGGACCGGGAAGTCCTGTCCCTCTATGCACCCTACCTGGCTCTTTTAAATGGGCCTGCTGTGAAGTCAGAAGGAGAGTGAATGACATACCATTGGCTTCTCTGCCTTGACGGTTTTCACCTGGAGGCATTCTTCCCGCTTTGAGGTAGTGTTGCTGAGGTCCTGCTGCTCACCAAGGGCTCCCTGAGTCGGTCGGCCAGGCGACCTGGACTGTGAATGGCTGCCGGAATCTCTCGGGGGTGGCGGCCGAGGATGGATGTCCCCTCGCTGCTTCTTGGTGACATGAGCCTCTGGGCCATGCACTGTCTTCACATGTTTCCGGAGGGAGCTTGGGTCTGTGTAACGCTTAGTGCAGCCTGGGATTTTGCACACATATGGTTTCTGCCAAATCCCACAAGAACGAGGTAAGAGATTGTTATGAAAGAGACTATGCCCCAGCCCAAAAGTCCTTTATGGTTGCTCATTACATTTTTAATCCTTTCAAAACACTTTCACAAGGCTTTGAGGTGTTCAGATACCTCTAGGAACTAATAGTTTAATAAGGCCATTAGAACACTGTTCCGTGTCCATAGAATTTAGCTTTAATAGATTATGGCTTGAGAGAGAGGCTCAGGGAGAACTAAGAATGTGTAAATTGCCTTGATGTTCTTGGAAGCATTTACACTGTGAGTGAGAAGTATCACGGTGCCATAATAGGCACTCAATAGATATTTGATGATGATGATGATGATGATGACGATGACTATGAAGATGGCTTAAAAGACACCCATCATCTAATCAGGAGAAGACTGCACACCTTTCAGAAGAGATTGTGTGACAAAGTTTTTTATGGATGTCCTGGTTGTGAGATCTAATATCACTCTGATCCTTTTGAAAATGTGCTATTTATGCACAGGCATAATTTAAAAATTGCCGATGGCATCTCCCATGTTAGATGACACTAAAATGTGCTCCTTTGGGTAGCATTACAAGTGTGGGGATGTTCAGGGCTCAAAATAGCCAGAACCTTTCTGCTCTTTGAAGTTGGAAAGCCCTGTTACAGACTGTCCATGAATCCTCATCATAAACTGCAGAGGGCTGACGGATGTTCTGGGGACCAGGATTTCTGGTCTGTTTTCTTCTCCTCAGTGAATTTATAACTAAGGTCTATAAATTATTTCATGCTAATTTCATTTTCTATGTGGGTCAGTGATCAAGCCTAAGGATACAGTCATAAAAAATTATGCGGATGCTTATATAAGCGGATTATTTTCTGAAATCACAGAACTGCTGACCTTTGGCTCATGACCAACATCGGATTTGTGAGTTTGTTCACTTGGCTTAAAATATAATATACGCAAGAATGCTTTCATGAATATATATTTATATCTATGTATAGCAGAGGATGAGCTTTTACGTAAGCAAGCGTCATGAAAAGCAGGATTACTATAATGTACCTATTATATTTAAAAGGATGCCGTGTCTTGTAGAATGTATGTCTAAAAGATGCTTTTTCACTAAAAGCCCAAGAACAGACTGAGTGCTACCTAAAATGCTGAAATGTCCTAATGCAGTGAAGCAAAGATCCTGAAACTGAGAGGTTTCACCTCCAAACCTGAGACTCCTTTGGGCAGAATTGATTCCCATTAACTATGAATTACATCTATTCAGGAGCTTGTGTGATTTGCAGCATATATATATATAATAAGATGAGCACATCAAATTCTATGCATTAGGGACAAAAGACTGGCTCTGATAATTAGTGCCATTACCTTACAGTGTTCTGACACAGGCCCTATGCTTGCTCACAGCATTCCTGTGACAGGTTGTTCCATCAACAGGCAGACTGGGATATATGGGGCAGAGGTATGGAGACCAGAAGGAGAGAGGGAGCACAAAGCCTGCATGTTTGGAGAGCTACTCTTCCTGTAAATATATGGATGTACATTATGGGTTAGCTTAGAACCAAGGACGCAGCCAATATGTAATGAGATACAAATGTGTCGGCTCCTGCACTTCCAGAAACAACAGCCCATACAGGTGCACCTGTGCCCGTGTGCCCTTGTGTGTGAACATACACATTATCTACCCACAAAAATTCACAAATTCACAAGAATACAGGTTCAGGAAATGTATACCTCACAACAACATAACATAAACAAAATATATTAACCCTTCACACAACTTTTGCCCACAAATTTTGTTGTGATCAGTGACTGAAATAAAATATAATTAGAGACTAAGAAAAATGTTCTCAGACTTACTGAAGTGCAAGATTCTGCAAGCACAAAGTTGCATACAACAAAATTTAATCATAAGGAATACAAAATCTGATAGGAAAAATAAGAAGATGCAATGATCTGTAATATAAAGTGTGAAAGCTATGTA
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TGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATAAACCGTTGAATGTTCTGTACAATTATTATACAGGTAGGCTTTATTTTAAGAATAGACATGTGCTCCCCTTCAAAAAAAGTATATAAAACACAGTTTATGAACTGATTAAAATACAGTGATCAACCATAATGTATAAACATCTTATTAAGATACTTTTTTAAAGCAAAGTACAGCTACCCACTGATAAATCATGATAAATCTGCATAGCTGATTTGTGTTATTTTTGGCTAGACTTAATGTCACTCTCTAAGACTCTTAAGAATTCAAAGACAAACTCAGTAAGTCATTAAAACATAGCTTCTCACCGTCTCAATGGTAAGATTGTGCATTATTTCCCACCCACACGTACTGTGACATCACTCATGAATTCATAGGCTCTCCATCCGATAGACTGCTCTAATTTTAAGAAAATGCTGGCTTTAAGTATAAATCTGTTTGCCTGATTGTTTCCGTGCATCCGGCAGTCTGAGCATGAAACTTCTCTCTGGTACACTTCCTTCACAGGTTAGAGAGTGACAGCCCAGAACCCAATATATTTGCACAATTAAATCCATTCTACGCATGGCCAGATGGGCTGAATCTCCTCTACTATACTATCTACTCTTAATTTTTCTTGTTGTCTTTGAAATTTTTAGGTGTTTTATAAAATCACATTCATGAAGCGAAGTCACGAACTGAGGTTTGAAAGAAGCTGAAAGAGTAGCAGAGCCCACATGTCCTATTAGTCTCCAAACACAAAGATTGCCTACTGAATCTTCCAGATCCCTCTCTCATGCTCTGCCTTACTGGTTCAGGCCCAACTGCAGAAGTGGTCTCCAGTTTACCCAGTTTCTAGACTGGTACTGGAGTGGTTTCCTCAAAAAACAAGAACAAAAAAACAAACAAAAAAACTCACCCCTGCTATGCTGTTCCCCTCCCACCCCTGTGCTCCTCTGCCTCCTCATCCTCCTCAGCTCTTCCCTCTGGAGCACTGAACTCCTGTCCCATGGCTTCCTCTGCCCCGACTGACCGGCAGTCCGTCCCTCTCCTGAATCCTCTTTACACAGACTTGTGTGTAAGCCTCCATCACACTGCACGGTATTTGTTTTTCAGTCTATCTATCCCACTGGACTGTAAACTCCTAAAGAATATGGGCCATGGCCTATTTACCTTGGGGTCACCAGGGCAAAGAAGACAGAAAGCATGTTTACAGGAAGAGTCAATGAATGATTTTCGACATTACAGACACGCTGGAGAGACAGACAGTCGTGTCTTTCTTCCTTCCATGGCACAGTGGTATGGTTCTGGGAGGGATTTTAAAAATCAGTTAGGAAACCTGGAAACTCTTTTTCTGAGCTGATCGACTTCACGTAAGCAATACGGGTCACTGCCCTCATCGCCTCCTCAGATCAGAGACAGCCTGACACAGTGAGGACCGGGAAGTCCTGTCCCTCTATGCACCCTACCTGGCTCTTTTAAATGGGCCTGCTGTGAAGTCAGAAGGAGAGTGAATGACATACCATTGGCTTCTCTGCCTTGACGGTTTTCACCTGGAGGCATTCTTCCCGCTTTGAGGTAGTGTTGCTGAGGTCCTGCTGCTCACCAAGGGCTCCCTGAGTCGGTCGGCCAGGCGACCTGGACTGTGAATGGCTGCCGGAATCTCTCGGGGGTGGCGGCCGAGGATGGATGTCCCCTCGCTGCTTCTTGGTGACATGAGCCTCTGGGCCATGCACTGTCTTCACATGTTTCTGGAGGGAGCTTGGGTCTGTGTAACGCTTAGTGCAGCCTGGGATTTTGCACACATATGGTTTCTGCCAAATCCCACAAGAACGAGGTAAGAGATTGTTATGAAAGAGACTATGCCCCAGCCCAAAAGTCCTTTATGGTTGCTCATTACATTTTTAATCCTTTCAAAACACTTTCACAAGGCTTTGAGGTGTTCAGATACCTCTAGGAACTAATAGTTTAATAAGGCCATTAGAACACTGTTCCGTGTCCATAGAATTTAGCTTTAATAGATTATGGCTTGAGAGAGAGGCTCAGGGAGAACTAAGAATGTGTAAATTGCCTTGATGTTCTTGGAAGCATTTACACTGTGAGTGAGAAGTATCACGGTGCCATAATAGGCACTCAATAGATATTTGATGATGATGATGATGATGATGACGATGACTATGAAGATGGCTTAAAAGACACCCATCATCTAATCAGGAGAAGACTGCACACCTTTCAGAAGAGATTGTGTGACAAAGTTTTTTATGGATGTCCTGGTTGTGAGATCTAATATCACTCTGATCCTTTTGAAAATGTGCTATTTATGCACAGGCATAATTTAAAAATTGCCGATGGCATCTCCCATGTTAGATGACACTAAAATGTGCTCCTTTGGGTAGCATTACAAGTGTGGGGATGTTCAGGGCTCAAAATAGCCAGAACCTTTCTGCTCTTTGAAGTTGGAAAGCCCTGTTACAGACTGTCCATGAATCCTCATCATAAACTGCAGAGGGCTGACGGATGTTCTGGGGACCAGGATTTCTGGTCTGTTTTCTTCTCCTCAGTGAATTTATAACTAAGGTCTATAAATTATTTCATGCTAATTTCATTTTCTATGTGGGTCAGTGATCAAGCCTAAGGATACAGTCATAAAAAATTATGCGGATGCTTATATAAGCGGATTATTTTCTGAAATCACAGAACTGCTGACCTTTGGCTCATGACCAACATCGGATTTGTGAGTTTGTTCACTTGGCTTAAAATATAATATACGCAAGAATGCTTTCATGAATATATATTTATATCTATGTATAGCAGAGGATGAGCTTTTACGTAAGCAAGCGTCATGAAAAGCAGGATTACTATAATGTACCTATTATATTTAAAAGGATGCCGTGTCTTGTAGAATGTATGTCTAAAAGATGCTTTTTCACTAAAAGCCCAAGAACAGACTGAGTGCTACCTAAAATGCTGAAATGTCCTAATGCAGTGAAGCAAAGATCCTGAAACTGAGAGGTTTCACCTCCAAACCTGAGACTCCTTTGGGCAGAATTGATTCCCATTAACTATGAATTACATCTATTCAGGAGCTTGTGTGATTTGCAGCATATATATATATAATAAGATGAGCACATCAAATTCTATGCATTAGGGACAAAAGACTGGCTCTGATAATTAGTGCCATTACCTTACAGTGTTCTGACACAGGCCCTATGCTTGCTCACAGCATTCCTGTGACAGGTTGTTCCATCAACAGGCAGACTGGGATATATGGGGCAGAGGTATGGAGACCAGAAGGAGAGAGGGAGCACAAAGCCTGCATGTTTGGAGAGCTACTCTTCCTGTAAATATATGGATGTACATTATGGGTTAGCTTAGAACCAAGGACGCAGCCAATATGTAATGAGATACAAATGTGTCGGCTCCTGCACTTCCAGAAACAACAGCCCATACAGGTGCACCTGTGCCCGTGTGCCCTTGTGTGTGAACATACACATTATCTACCCACAAAAATTCACAAATTCACAAGAATACAGGTTCAGGAAATGTATACCTCACAACAACATAACATAAACAAAATATATTAACCCTTCACACAACTTTTGCCCACAAATTTTGTTGTGATCAGTGACTGAAATAAAATATAATTAGAGACTAAGAAAAATGTTCTCAGACTTACTGAAGTGCAAGATTCTGCAAGCACAAAGTTGCATACAACAAAATTTAATCATAAGGAATACAAAATCTGATAGGAAAAATAAGAAGATGCAATGATCTGTAATATAAAGTGTGAAAGCTATGTA
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Task1_train_11105
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A genetic alteration is present in GLI3 (GLI family zinc finger 3) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Greig cephalopolysyndactyly syndrome
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TGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATAAACCGTTGAATGTTCTGTACAATTATTATACAGGTAGGCTTTATTTTAAGAATAGACATGTGCTCCCCTTCAAAAAAAGTATATAAAACACAGTTTATGAACTGATTAAAATACAGTGATCAACCATAATGTATAAACATCTTATTAAGATACTTTTTTAAAGCAAAGTACAGCTACCCACTGATAAATCATGATAAATCTGCATAGCTGATTTGTGTTATTTTTGGCTAGACTTAATGTCACTCTCTAAGACTCTTAAGAATTCAAAGACAAACTCAGTAAGTCATTAAAACATAGCTTCTCACCGTCTCAATGGTAAGATTGTGCATTATTTCCCACCCACACGTACTGTGACATCACTCATGAATTCATAGGCTCTCCATCCGATAGACTGCTCTAATTTTAAGAAAATGCTGGCTTTAAGTATAAATCTGTTTGCCTGATTGTTTCCGTGCATCCGGCAGTCTGAGCATGAAACTTCTCTCTGGTACACTTCCTTCACAGGTTAGAGAGTGACAGCCCAGAACCCAATATATTTGCACAATTAAATCCATTCTACGCATGGCCAGATGGGCTGAATCTCCTCTACTATACTATCTACTCTTAATTTTTCTTGTTGTCTTTGAAATTTTTAGGTGTTTTATAAAATCACATTCATGAAGCGAAGTCACGAACTGAGGTTTGAAAGAAGCTGAAAGAGTAGCAGAGCCCACATGTCCTATTAGTCTCCAAACACAAAGATTGCCTACTGAATCTTCCAGATCCCTCTCTCATGCTCTGCCTTACTGGTTCAGGCCCAACTGCAGAAGTGGTCTCCAGTTTACCCAGTTTCTAGACTGGTACTGGAGTGGTTTCCTCAAAAAACAAGAACAAAAAAACAAACAAAAAAACTCACCCCTGCTATGCTGTTCCCCTCCCACCCCTGTGCTCCTCTGCCTCCTCATCCTCCTCAGCTCTTCCCTCTGGAGCACTGAACTCCTGTCCCATGGCTTCCTCTGCCCCGACTGACCGGCAGTCCGTCCCTCTCCTGAATCCTCTTTACACAGACTTGTGTGTAAGCCTCCATCACACTGCACGGTATTTGTTTTTCAGTCTATCTATCCCACTGGACTGTAAACTCCTAAAGAATATGGGCCATGGCCTATTTACCTTGGGGTCACCAGGGCAAAGAAGACAGAAAGCATGTTTACAGGAAGAGTCAATGAATGATTTTCGACATTACAGACACGCTGGAGAGACAGACAGTCGTGTCTTTCTTCCTTCCATGGCACAGTGGTATGGTTCTGGGAGGGATTTTAAAAATCAGTTAGGAAACCTGGAAACTCTTTTTCTGAGCTGATCGACTTCACGTAAGCAATACGGGTCACTGCCCTCATCGCCTCCTCAGATCAGAGACAGCCTGACACAGTGAGGACCGGGAAGTCCTGTCCCTCTATGCACCCTACCTGGCTCTTTTAAATGGGCCTGCTGTGAAGTCAGAAGGAGAGTGAATGACATACCATTGGCTTCTCTGCCTTGACGGTTTTCACCTGGAGGCATTCTTCCCGCTTTGAGGTAGTGTTGCTGAGGTCCTGCTGCTCACCAAGGGCTCCCTGAGTCGGTCGGCCAGGCGACCTGGACTGTGAATGGCTGCCGGAATCTCTCGGGGGTGGCGGCCGAGGATGGATGTCCCCTCGCTGCTTCTTGGTGACATGAGCCTCTGGGCCATGCACTGTCTTCACATGTTTCCGGAGGGAGCTTGGGTCTGTGTAACGCTTAGTGCAGCCTGGGATTTTGCACACATATGGTTTCTGCCAAATCCCACAAGAACGAGGTAAGAGATTGTTATGAAAGAGACTATGCCCCAGCCCAAAAGTCCTTTATGGTTGCTCATTACATTTTTAATCCTTTCAAAACACTTTCACAAGGCTTTGAGGTGTTCAGATACCTCTAGGAACTAATAGTTTAATAAGGCCATTAGAACACTGTTCCGTGTCCATAGAATTTAGCTTTAATAGATTATGGCTTGAGAGAGAGGCTCAGGGAGAACTAAGAATGTGTAAATTGCCTTGATGTTCTTGGAAGCATTTACACTGTGAGTGAGAAGTATCACGGTGCCATAATAGGCACTCAATAGATATTTGATGATGATGATGATGATGATGACGATGACTATGAAGATGGCTTAAAAGACACCCATCATCTAATCAGGAGAAGACTGCACACCTTTCAGAAGAGATTGTGTGACAAAGTTTTTTATGGATGTCCTGGTTGTGAGATCTAATATCACTCTGATCCTTTTGAAAATGTGCTATTTATGCACAGGCATAATTTAAAAATTGCCGATGGCATCTCCCATGTTAGATGACACTAAAATGTGCTCCTTTGGGTAGCATTACAAGTGTGGGGATGTTCAGGGCTCAAAATAGCCAGAACCTTTCTGCTCTTTGAAGTTGGAAAGCCCTGTTACAGACTGTCCATGAATCCTCATCATAAACTGCAGAGGGCTGACGGATGTTCTGGGGACCAGGATTTCTGGTCTGTTTTCTTCTCCTCAGTGAATTTATAACTAAGGTCTATAAATTATTTCATGCTAATTTCATTTTCTATGTGGGTCAGTGATCAAGCCTAAGGATACAGTCATAAAAAATTATGCGGATGCTTATATAAGCGGATTATTTTCTGAAATCACAGAACTGCTGACCTTTGGCTCATGACCAACATCGGATTTGTGAGTTTGTTCACTTGGCTTAAAATATAATATACGCAAGAATGCTTTCATGAATATATATTTATATCTATGTATAGCAGAGGATGAGCTTTTACGTAAGCAAGCGTCATGAAAAGCAGGATTACTATAATGTACCTATTATATTTAAAAGGATGCCGTGTCTTGTAGAATGTATGTCTAAAAGATGCTTTTTCACTAAAAGCCCAAGAACAGACTGAGTGCTACCTAAAATGCTGAAATGTCCTAATGCAGTGAAGCAAAGATCCTGAAACTGAGAGGTTTCACCTCCAAACCTGAGACTCCTTTGGGCAGAATTGATTCCCATTAACTATGAATTACATCTATTCAGGAGCTTGTGTGATTTGCAGCATATATATATATAATAAGATGAGCACATCAAATTCTATGCATTAGGGACAAAAGACTGGCTCTGATAATTAGTGCCATTACCTTACAGTGTTCTGACACAGGCCCTATGCTTGCTCACAGCATTCCTGTGACAGGTTGTTCCATCAACAGGCAGACTGGGATATATGGGGCAGAGGTATGGAGACCAGAAGGAGAGAGGGAGCACAAAGCCTGCATGTTTGGAGAGCTACTCTTCCTGTAAATATATGGATGTACATTATGGGTTAGCTTAGAACCAAGGACGCAGCCAATATGTAATGAGATACAAATGTGTCGGCTCCTGCACTTCCAGAAACAACAGCCCATACAGGTGCACCTGTGCCCGTGTGCCCTTGTGTGTGAACATACACATTATCTACCCACAAAAATTCACAAATTCACAAGAATACAGGTTCAGGAAATGTATACCTCACAACAACATAACATAAACAAAATATATTAACCCTTCACACAACTTTTGCCCACAAATTTTGTTGTGATCAGTGACTGAAATAAAATATAATTAGAGACTAAGAAAAATGTTCTCAGACTTACTGAAGTGCAAGATTCTGCAAGCACAAAGTTGCATACAACAAAATTTAATCATAAGGAATACAAAATCTGATAGGAAAAATAAGAAGATGCAATGATCTGTAATATAAAGTGTGAAAGCTATGTA
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TGCCATTAAAAGTAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATAAACCGTTGAATGTTCTGTACAATTATTATACAGGTAGGCTTTATTTTAAGAATAGACATGTGCTCCCCTTCAAAAAAAGTATATAAAACACAGTTTATGAACTGATTAAAATACAGTGATCAACCATAATGTATAAACATCTTATTAAGATACTTTTTTAAAGCAAAGTACAGCTACCCACTGATAAATCATGATAAATCTGCATAGCTGATTTGTGTTATTTTTGGCTAGACTTAATGTCACTCTCTAAGACTCTTAAGAATTCAAAGACAAACTCAGTAAGTCATTAAAACATAGCTTCTCACCGTCTCAATGGTAAGATTGTGCATTATTTCCCACCCACACGTACTGTGACATCACTCATGAATTCATAGGCTCTCCATCCGATAGACTGCTCTAATTTTAAGAAAATGCTGGCTTTAAGTATAAATCTGTTTGCCTGATTGTTTCCGTGCATCCGGCAGTCTGAGCATGAAACTTCTCTCTGGTACACTTCCTTCACAGGTTAGAGAGTGACAGCCCAGAACCCAATATATTTGCACAATTAAATCCATTCTACGCATGGCCAGATGGGCTGAATCTCCTCTACTATACTATCTACTCTTAATTTTTCTTGTTGTCTTTGAAATTTTTAGGTGTTTTATAAAATCACATTCATGAAGCGAAGTCACGAACTGAGGTTTGAAAGAAGCTGAAAGAGTAGCAGAGCCCACATGTCCTATTAGTCTCCAAACACAAAGATTGCCTACTGAATCTTCCAGATCCCTCTCTCATGCTCTGCCTTACTGGTTCAGGCCCAACTGCAGAAGTGGTCTCCAGTTTACCCAGTTTCTAGACTGGTACTGGAGTGGTTTCCTCAAAAAACAAGAACAAAAAAACAAACAAAAAAACTCACCCCTGCTATGCTGTTCCCCTCCCACCCCTGTGCTCCTCTGCCTCCTCATCCTCCTCAGCTCTTCCCTCTGGAGCACTGAACTCCTGTCCCATGGCTTCCTCTGCCCCGACTGACCGGCAGTCCGTCCCTCTCCTGAATCCTCTTTACACAGACTTGTGTGTAAGCCTCCATCACACTGCACGGTATTTGTTTTTCAGTCTATCTATCCCACTGGACTGTAAACTCCTAAAGAATATGGGCCATGGCCTATTTACCTTGGGGTCACCAGGGCAAAGAAGACAGAAAGCATGTTTACAGGAAGAGTCAATGAATGATTTTCGACATTACAGACACGCTGGAGAGACAGACAGTCGTGTCTTTCTTCCTTCCATGGCACAGTGGTATGGTTCTGGGAGGGATTTTAAAAATCAGTTAGGAAACCTGGAAACTCTTTTTCTGAGCTGATCGACTTCACGTAAGCAATACGGGTCACTGCCCTCATCGCCTCCTCAGATCAGAGACAGCCTGACACAGTGAGGACCGGGAAGTCCTGTCCCTCTATGCACCCTACCTGGCTCTTTTAAATGGGCCTGCTGTGAAGTCAGAAGGAGAGTGAATGACATACCATTGGCTTCTCTGCCTTGACGGTTTTCACCTGGAGGCATTCTTCCCGCTTTGAGGTAGTGTTGCTGAGGTCCTGCTGCTCACCAAGGGCTCCCTGAGTCGGTCGGCCAGGCGACCTGGACTGTGAATGGCTGCCGGAATCTCTCGGGGGTGGCGGCCGAGGATGGATGTCCCCTCGCTGCTTCTTGGTGACATGAGCCTCTGGGCCATGCACTGTCTTCACATGTTTCTGGAGGGAGCTTGGGTCTGTGTAACGCTTAGTGCAGCCTGGGATTTTGCACACATATGGTTTCTGCCAAATCCCACAAGAACGAGGTAAGAGATTGTTATGAAAGAGACTATGCCCCAGCCCAAAAGTCCTTTATGGTTGCTCATTACATTTTTAATCCTTTCAAAACACTTTCACAAGGCTTTGAGGTGTTCAGATACCTCTAGGAACTAATAGTTTAATAAGGCCATTAGAACACTGTTCCGTGTCCATAGAATTTAGCTTTAATAGATTATGGCTTGAGAGAGAGGCTCAGGGAGAACTAAGAATGTGTAAATTGCCTTGATGTTCTTGGAAGCATTTACACTGTGAGTGAGAAGTATCACGGTGCCATAATAGGCACTCAATAGATATTTGATGATGATGATGATGATGATGACGATGACTATGAAGATGGCTTAAAAGACACCCATCATCTAATCAGGAGAAGACTGCACACCTTTCAGAAGAGATTGTGTGACAAAGTTTTTTATGGATGTCCTGGTTGTGAGATCTAATATCACTCTGATCCTTTTGAAAATGTGCTATTTATGCACAGGCATAATTTAAAAATTGCCGATGGCATCTCCCATGTTAGATGACACTAAAATGTGCTCCTTTGGGTAGCATTACAAGTGTGGGGATGTTCAGGGCTCAAAATAGCCAGAACCTTTCTGCTCTTTGAAGTTGGAAAGCCCTGTTACAGACTGTCCATGAATCCTCATCATAAACTGCAGAGGGCTGACGGATGTTCTGGGGACCAGGATTTCTGGTCTGTTTTCTTCTCCTCAGTGAATTTATAACTAAGGTCTATAAATTATTTCATGCTAATTTCATTTTCTATGTGGGTCAGTGATCAAGCCTAAGGATACAGTCATAAAAAATTATGCGGATGCTTATATAAGCGGATTATTTTCTGAAATCACAGAACTGCTGACCTTTGGCTCATGACCAACATCGGATTTGTGAGTTTGTTCACTTGGCTTAAAATATAATATACGCAAGAATGCTTTCATGAATATATATTTATATCTATGTATAGCAGAGGATGAGCTTTTACGTAAGCAAGCGTCATGAAAAGCAGGATTACTATAATGTACCTATTATATTTAAAAGGATGCCGTGTCTTGTAGAATGTATGTCTAAAAGATGCTTTTTCACTAAAAGCCCAAGAACAGACTGAGTGCTACCTAAAATGCTGAAATGTCCTAATGCAGTGAAGCAAAGATCCTGAAACTGAGAGGTTTCACCTCCAAACCTGAGACTCCTTTGGGCAGAATTGATTCCCATTAACTATGAATTACATCTATTCAGGAGCTTGTGTGATTTGCAGCATATATATATATAATAAGATGAGCACATCAAATTCTATGCATTAGGGACAAAAGACTGGCTCTGATAATTAGTGCCATTACCTTACAGTGTTCTGACACAGGCCCTATGCTTGCTCACAGCATTCCTGTGACAGGTTGTTCCATCAACAGGCAGACTGGGATATATGGGGCAGAGGTATGGAGACCAGAAGGAGAGAGGGAGCACAAAGCCTGCATGTTTGGAGAGCTACTCTTCCTGTAAATATATGGATGTACATTATGGGTTAGCTTAGAACCAAGGACGCAGCCAATATGTAATGAGATACAAATGTGTCGGCTCCTGCACTTCCAGAAACAACAGCCCATACAGGTGCACCTGTGCCCGTGTGCCCTTGTGTGTGAACATACACATTATCTACCCACAAAAATTCACAAATTCACAAGAATACAGGTTCAGGAAATGTATACCTCACAACAACATAACATAAACAAAATATATTAACCCTTCACACAACTTTTGCCCACAAATTTTGTTGTGATCAGTGACTGAAATAAAATATAATTAGAGACTAAGAAAAATGTTCTCAGACTTACTGAAGTGCAAGATTCTGCAAGCACAAAGTTGCATACAACAAAATTTAATCATAAGGAATACAAAATCTGATAGGAAAAATAAGAAGATGCAATGATCTGTAATATAAAGTGTGAAAGCTATGTA
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Task1_train_11106
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Given a variant located on Chromosome 7 and affecting GLI3 (GLI family zinc finger 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Greig cephalopolysyndactyly syndrome
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TAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATAAACCGTTGAATGTTCTGTACAATTATTATACAGGTAGGCTTTATTTTAAGAATAGACATGTGCTCCCCTTCAAAAAAAGTATATAAAACACAGTTTATGAACTGATTAAAATACAGTGATCAACCATAATGTATAAACATCTTATTAAGATACTTTTTTAAAGCAAAGTACAGCTACCCACTGATAAATCATGATAAATCTGCATAGCTGATTTGTGTTATTTTTGGCTAGACTTAATGTCACTCTCTAAGACTCTTAAGAATTCAAAGACAAACTCAGTAAGTCATTAAAACATAGCTTCTCACCGTCTCAATGGTAAGATTGTGCATTATTTCCCACCCACACGTACTGTGACATCACTCATGAATTCATAGGCTCTCCATCCGATAGACTGCTCTAATTTTAAGAAAATGCTGGCTTTAAGTATAAATCTGTTTGCCTGATTGTTTCCGTGCATCCGGCAGTCTGAGCATGAAACTTCTCTCTGGTACACTTCCTTCACAGGTTAGAGAGTGACAGCCCAGAACCCAATATATTTGCACAATTAAATCCATTCTACGCATGGCCAGATGGGCTGAATCTCCTCTACTATACTATCTACTCTTAATTTTTCTTGTTGTCTTTGAAATTTTTAGGTGTTTTATAAAATCACATTCATGAAGCGAAGTCACGAACTGAGGTTTGAAAGAAGCTGAAAGAGTAGCAGAGCCCACATGTCCTATTAGTCTCCAAACACAAAGATTGCCTACTGAATCTTCCAGATCCCTCTCTCATGCTCTGCCTTACTGGTTCAGGCCCAACTGCAGAAGTGGTCTCCAGTTTACCCAGTTTCTAGACTGGTACTGGAGTGGTTTCCTCAAAAAACAAGAACAAAAAAACAAACAAAAAAACTCACCCCTGCTATGCTGTTCCCCTCCCACCCCTGTGCTCCTCTGCCTCCTCATCCTCCTCAGCTCTTCCCTCTGGAGCACTGAACTCCTGTCCCATGGCTTCCTCTGCCCCGACTGACCGGCAGTCCGTCCCTCTCCTGAATCCTCTTTACACAGACTTGTGTGTAAGCCTCCATCACACTGCACGGTATTTGTTTTTCAGTCTATCTATCCCACTGGACTGTAAACTCCTAAAGAATATGGGCCATGGCCTATTTACCTTGGGGTCACCAGGGCAAAGAAGACAGAAAGCATGTTTACAGGAAGAGTCAATGAATGATTTTCGACATTACAGACACGCTGGAGAGACAGACAGTCGTGTCTTTCTTCCTTCCATGGCACAGTGGTATGGTTCTGGGAGGGATTTTAAAAATCAGTTAGGAAACCTGGAAACTCTTTTTCTGAGCTGATCGACTTCACGTAAGCAATACGGGTCACTGCCCTCATCGCCTCCTCAGATCAGAGACAGCCTGACACAGTGAGGACCGGGAAGTCCTGTCCCTCTATGCACCCTACCTGGCTCTTTTAAATGGGCCTGCTGTGAAGTCAGAAGGAGAGTGAATGACATACCATTGGCTTCTCTGCCTTGACGGTTTTCACCTGGAGGCATTCTTCCCGCTTTGAGGTAGTGTTGCTGAGGTCCTGCTGCTCACCAAGGGCTCCCTGAGTCGGTCGGCCAGGCGACCTGGACTGTGAATGGCTGCCGGAATCTCTCGGGGGTGGCGGCCGAGGATGGATGTCCCCTCGCTGCTTCTTGGTGACATGAGCCTCTGGGCCATGCACTGTCTTCACATGTTTCCGGAGGGAGCTTGGGTCTGTGTAACGCTTAGTGCAGCCTGGGATTTTGCACACATATGGTTTCTGCCAAATCCCACAAGAACGAGGTAAGAGATTGTTATGAAAGAGACTATGCCCCAGCCCAAAAGTCCTTTATGGTTGCTCATTACATTTTTAATCCTTTCAAAACACTTTCACAAGGCTTTGAGGTGTTCAGATACCTCTAGGAACTAATAGTTTAATAAGGCCATTAGAACACTGTTCCGTGTCCATAGAATTTAGCTTTAATAGATTATGGCTTGAGAGAGAGGCTCAGGGAGAACTAAGAATGTGTAAATTGCCTTGATGTTCTTGGAAGCATTTACACTGTGAGTGAGAAGTATCACGGTGCCATAATAGGCACTCAATAGATATTTGATGATGATGATGATGATGATGACGATGACTATGAAGATGGCTTAAAAGACACCCATCATCTAATCAGGAGAAGACTGCACACCTTTCAGAAGAGATTGTGTGACAAAGTTTTTTATGGATGTCCTGGTTGTGAGATCTAATATCACTCTGATCCTTTTGAAAATGTGCTATTTATGCACAGGCATAATTTAAAAATTGCCGATGGCATCTCCCATGTTAGATGACACTAAAATGTGCTCCTTTGGGTAGCATTACAAGTGTGGGGATGTTCAGGGCTCAAAATAGCCAGAACCTTTCTGCTCTTTGAAGTTGGAAAGCCCTGTTACAGACTGTCCATGAATCCTCATCATAAACTGCAGAGGGCTGACGGATGTTCTGGGGACCAGGATTTCTGGTCTGTTTTCTTCTCCTCAGTGAATTTATAACTAAGGTCTATAAATTATTTCATGCTAATTTCATTTTCTATGTGGGTCAGTGATCAAGCCTAAGGATACAGTCATAAAAAATTATGCGGATGCTTATATAAGCGGATTATTTTCTGAAATCACAGAACTGCTGACCTTTGGCTCATGACCAACATCGGATTTGTGAGTTTGTTCACTTGGCTTAAAATATAATATACGCAAGAATGCTTTCATGAATATATATTTATATCTATGTATAGCAGAGGATGAGCTTTTACGTAAGCAAGCGTCATGAAAAGCAGGATTACTATAATGTACCTATTATATTTAAAAGGATGCCGTGTCTTGTAGAATGTATGTCTAAAAGATGCTTTTTCACTAAAAGCCCAAGAACAGACTGAGTGCTACCTAAAATGCTGAAATGTCCTAATGCAGTGAAGCAAAGATCCTGAAACTGAGAGGTTTCACCTCCAAACCTGAGACTCCTTTGGGCAGAATTGATTCCCATTAACTATGAATTACATCTATTCAGGAGCTTGTGTGATTTGCAGCATATATATATATAATAAGATGAGCACATCAAATTCTATGCATTAGGGACAAAAGACTGGCTCTGATAATTAGTGCCATTACCTTACAGTGTTCTGACACAGGCCCTATGCTTGCTCACAGCATTCCTGTGACAGGTTGTTCCATCAACAGGCAGACTGGGATATATGGGGCAGAGGTATGGAGACCAGAAGGAGAGAGGGAGCACAAAGCCTGCATGTTTGGAGAGCTACTCTTCCTGTAAATATATGGATGTACATTATGGGTTAGCTTAGAACCAAGGACGCAGCCAATATGTAATGAGATACAAATGTGTCGGCTCCTGCACTTCCAGAAACAACAGCCCATACAGGTGCACCTGTGCCCGTGTGCCCTTGTGTGTGAACATACACATTATCTACCCACAAAAATTCACAAATTCACAAGAATACAGGTTCAGGAAATGTATACCTCACAACAACATAACATAAACAAAATATATTAACCCTTCACACAACTTTTGCCCACAAATTTTGTTGTGATCAGTGACTGAAATAAAATATAATTAGAGACTAAGAAAAATGTTCTCAGACTTACTGAAGTGCAAGATTCTGCAAGCACAAAGTTGCATACAACAAAATTTAATCATAAGGAATACAAAATCTGATAGGAAAAATAAGAAGATGCAATGATCTGTAATATAAAGTGTGAAAGCTATGTAAGGATATAGACA
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TAATGACAAGACCCACAATTACGTTGGCACCAACCTAATATGACTGAATTACTTTATGAAATATTTCACACATTGGGACATCTCAATGTTGCTGAGCCAAATCGCTGTAATTTTTATTTCTACCAATTTTCTTTTTAAACAATGGGTGTTTGAAGAGAAAATGACAATTTTCTTGAGCTAGGAATGTACACTAAAAGTAGAAGAGATTTTGGGTTCTTGGAATATCCCAAGAATATAAATCATCGGTTTCATGACATAATCTAAGACTGCAAATTAACTTTCTTTGTTTTGTTAAACACGTGAGGATAAACCGTTGAATGTTCTGTACAATTATTATACAGGTAGGCTTTATTTTAAGAATAGACATGTGCTCCCCTTCAAAAAAAGTATATAAAACACAGTTTATGAACTGATTAAAATACAGTGATCAACCATAATGTATAAACATCTTATTAAGATACTTTTTTAAAGCAAAGTACAGCTACCCACTGATAAATCATGATAAATCTGCATAGCTGATTTGTGTTATTTTTGGCTAGACTTAATGTCACTCTCTAAGACTCTTAAGAATTCAAAGACAAACTCAGTAAGTCATTAAAACATAGCTTCTCACCGTCTCAATGGTAAGATTGTGCATTATTTCCCACCCACACGTACTGTGACATCACTCATGAATTCATAGGCTCTCCATCCGATAGACTGCTCTAATTTTAAGAAAATGCTGGCTTTAAGTATAAATCTGTTTGCCTGATTGTTTCCGTGCATCCGGCAGTCTGAGCATGAAACTTCTCTCTGGTACACTTCCTTCACAGGTTAGAGAGTGACAGCCCAGAACCCAATATATTTGCACAATTAAATCCATTCTACGCATGGCCAGATGGGCTGAATCTCCTCTACTATACTATCTACTCTTAATTTTTCTTGTTGTCTTTGAAATTTTTAGGTGTTTTATAAAATCACATTCATGAAGCGAAGTCACGAACTGAGGTTTGAAAGAAGCTGAAAGAGTAGCAGAGCCCACATGTCCTATTAGTCTCCAAACACAAAGATTGCCTACTGAATCTTCCAGATCCCTCTCTCATGCTCTGCCTTACTGGTTCAGGCCCAACTGCAGAAGTGGTCTCCAGTTTACCCAGTTTCTAGACTGGTACTGGAGTGGTTTCCTCAAAAAACAAGAACAAAAAAACAAACAAAAAAACTCACCCCTGCTATGCTGTTCCCCTCCCACCCCTGTGCTCCTCTGCCTCCTCATCCTCCTCAGCTCTTCCCTCTGGAGCACTGAACTCCTGTCCCATGGCTTCCTCTGCCCCGACTGACCGGCAGTCCGTCCCTCTCCTGAATCCTCTTTACACAGACTTGTGTGTAAGCCTCCATCACACTGCACGGTATTTGTTTTTCAGTCTATCTATCCCACTGGACTGTAAACTCCTAAAGAATATGGGCCATGGCCTATTTACCTTGGGGTCACCAGGGCAAAGAAGACAGAAAGCATGTTTACAGGAAGAGTCAATGAATGATTTTCGACATTACAGACACGCTGGAGAGACAGACAGTCGTGTCTTTCTTCCTTCCATGGCACAGTGGTATGGTTCTGGGAGGGATTTTAAAAATCAGTTAGGAAACCTGGAAACTCTTTTTCTGAGCTGATCGACTTCACGTAAGCAATACGGGTCACTGCCCTCATCGCCTCCTCAGATCAGAGACAGCCTGACACAGTGAGGACCGGGAAGTCCTGTCCCTCTATGCACCCTACCTGGCTCTTTTAAATGGGCCTGCTGTGAAGTCAGAAGGAGAGTGAATGACATACCATTGGCTTCTCTGCCTTGACGGTTTTCACCTGGAGGCATTCTTCCCGCTTTGAGGTAGTGTTGCTGAGGTCCTGCTGCTCACCAAGGGCTCCCTGAGTCGGTCGGCCAGGCGACCTGGACTGTGAATGGCTGCCGGAATCTCTCGGGGGTGGCGGCCGAGGATGGATGTCCCCTCGCTGCTTCTTGGTGACATGAGCCTCTGGGCCATGCACTGTCTTCACATGTTTCCGGAGGGAGCTTAGGTCTGTGTAACGCTTAGTGCAGCCTGGGATTTTGCACACATATGGTTTCTGCCAAATCCCACAAGAACGAGGTAAGAGATTGTTATGAAAGAGACTATGCCCCAGCCCAAAAGTCCTTTATGGTTGCTCATTACATTTTTAATCCTTTCAAAACACTTTCACAAGGCTTTGAGGTGTTCAGATACCTCTAGGAACTAATAGTTTAATAAGGCCATTAGAACACTGTTCCGTGTCCATAGAATTTAGCTTTAATAGATTATGGCTTGAGAGAGAGGCTCAGGGAGAACTAAGAATGTGTAAATTGCCTTGATGTTCTTGGAAGCATTTACACTGTGAGTGAGAAGTATCACGGTGCCATAATAGGCACTCAATAGATATTTGATGATGATGATGATGATGATGACGATGACTATGAAGATGGCTTAAAAGACACCCATCATCTAATCAGGAGAAGACTGCACACCTTTCAGAAGAGATTGTGTGACAAAGTTTTTTATGGATGTCCTGGTTGTGAGATCTAATATCACTCTGATCCTTTTGAAAATGTGCTATTTATGCACAGGCATAATTTAAAAATTGCCGATGGCATCTCCCATGTTAGATGACACTAAAATGTGCTCCTTTGGGTAGCATTACAAGTGTGGGGATGTTCAGGGCTCAAAATAGCCAGAACCTTTCTGCTCTTTGAAGTTGGAAAGCCCTGTTACAGACTGTCCATGAATCCTCATCATAAACTGCAGAGGGCTGACGGATGTTCTGGGGACCAGGATTTCTGGTCTGTTTTCTTCTCCTCAGTGAATTTATAACTAAGGTCTATAAATTATTTCATGCTAATTTCATTTTCTATGTGGGTCAGTGATCAAGCCTAAGGATACAGTCATAAAAAATTATGCGGATGCTTATATAAGCGGATTATTTTCTGAAATCACAGAACTGCTGACCTTTGGCTCATGACCAACATCGGATTTGTGAGTTTGTTCACTTGGCTTAAAATATAATATACGCAAGAATGCTTTCATGAATATATATTTATATCTATGTATAGCAGAGGATGAGCTTTTACGTAAGCAAGCGTCATGAAAAGCAGGATTACTATAATGTACCTATTATATTTAAAAGGATGCCGTGTCTTGTAGAATGTATGTCTAAAAGATGCTTTTTCACTAAAAGCCCAAGAACAGACTGAGTGCTACCTAAAATGCTGAAATGTCCTAATGCAGTGAAGCAAAGATCCTGAAACTGAGAGGTTTCACCTCCAAACCTGAGACTCCTTTGGGCAGAATTGATTCCCATTAACTATGAATTACATCTATTCAGGAGCTTGTGTGATTTGCAGCATATATATATATAATAAGATGAGCACATCAAATTCTATGCATTAGGGACAAAAGACTGGCTCTGATAATTAGTGCCATTACCTTACAGTGTTCTGACACAGGCCCTATGCTTGCTCACAGCATTCCTGTGACAGGTTGTTCCATCAACAGGCAGACTGGGATATATGGGGCAGAGGTATGGAGACCAGAAGGAGAGAGGGAGCACAAAGCCTGCATGTTTGGAGAGCTACTCTTCCTGTAAATATATGGATGTACATTATGGGTTAGCTTAGAACCAAGGACGCAGCCAATATGTAATGAGATACAAATGTGTCGGCTCCTGCACTTCCAGAAACAACAGCCCATACAGGTGCACCTGTGCCCGTGTGCCCTTGTGTGTGAACATACACATTATCTACCCACAAAAATTCACAAATTCACAAGAATACAGGTTCAGGAAATGTATACCTCACAACAACATAACATAAACAAAATATATTAACCCTTCACACAACTTTTGCCCACAAATTTTGTTGTGATCAGTGACTGAAATAAAATATAATTAGAGACTAAGAAAAATGTTCTCAGACTTACTGAAGTGCAAGATTCTGCAAGCACAAAGTTGCATACAACAAAATTTAATCATAAGGAATACAAAATCTGATAGGAAAAATAAGAAGATGCAATGATCTGTAATATAAAGTGTGAAAGCTATGTAAGGATATAGACA
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Task1_train_11107
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This variant lies on Chromosome 7 and affects the gene AEBP1 (AE binding protein 1). 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, classic type, 1
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GACCAGAGCTGCCCTCTGACTGTGCCCCCGATGTGCCGGGAGTGGGCTCTGGGCTCCTTGGTTCTGGGTTTGGTGGAGGGAAGGATGGAGCTAGTGAGCCACCATTCTGGGGTACGCGTCCTCAGAGTGTCCCCCCATTGGGATGGAGTCACACCGTATTGAGGACAACCAGATCCGAGCCTCCTCCATGCTGCGCCACGGCCTGGGGGCACAGCGCGGCCGGCTCAACATGCAGGTGGGCATTGGGATGGGCCCATCTCCCAACTGGGATAAGGGACTCCTCCGCCCATGCTCAGCCTCCCCTGCCCCCTGGACAGACCGGTGCCACTGAGGACGACTACTATGATGGTGCGTGGTGTGCCGAGGACGATGCCAGGACCCAGTGGATAGAGGTGGACACCAGGAGGACTACCCGGTTCACAGGCGTCATCACCCAGGGCAGAGACTCCAGCATCCAGTGCGTGGCCAGGCTCATGGATAGTTGGCAGAGGGGAGTGGCTACATAGGCATGGCTCTGTGTCCCATTAAGGAGATTCCAGTGGGCCCTTCTTTGGCCCAGCCAAAGAAGGCCAAAAAGATCAGTGAGGGACTCACCCTGCCCATCCCCACTCCTCAGCCTGGTCAGTCAGCCCCTGTGTCCTGATAGCACATGAGTTTAGGGACAGATCACCTGCCCATGGCTATGTGACGGGCATAGGACCCAGGCTCAACACCTGGGCCGTGCAGCACCACCCTGCTAGCTCTTAAATTCTTGGGGCTCGGAAGAGGGAGGCTCAGGCCACCTGAGGGCCTGGGAGGGGGAAGACCCTTGCTCTGACCACTGTCCACTCCACAGTGACGATTTTGTGACCACCTTCTTCGTGGGCTTCAGCAATGACAGCCAGACATGGGTGATGTACACCAACGGCTATGAGGAAATGGTGGGCACCATGCCCAGGCTCTTGGCTCTGCTCCCATTGTCTGGGCGAGGGGTGGGCTCTCAGAGGGGCTGGCAGTACTGCTCTGAGGCCTGCCTCTCCCCAGACCTTTCATGGGAACGTGGACAAGGACACACCCGTGCTGAGTGAGCTCCCAGAGCCGGTGGTGGCTCGTTTCATCCGCATCTACCCACTCACCTGGAATGGCAGCCTGTGCATGCGCCTGGAGGTGCTGGGGTGCTCTGTGGCCCGTGAGTGTGGAGGGCTGGCAGGGGCTCTGAGTGGAGGTGGGGTGCTAGGGTGGGCCAGCCGGCACCCAGCTAAAGACAACCCCGCCTCCCTTGCAGCTGTCTACAGCTACTACGCACAGAATGAGGTGGTGGCCACCGATGACCTGGATTTCCGGCACCACAGCTACAAGGACATGCGCCAGGTTGGGAGCATATATCCTGGGGCTGGGGGTGGGACCTGTCTGTGGCTGACGGGAGTGTGTGCCTGGTGCTTCTGTCACTGGGCCCAGTCCCTACTGGTTCCAGGGATGCTGGCTGTCCCTCACCTTAGGAAGGAGGCCAGTACCTGGGGGCTGCGTGAAGGGGTCATGCCCGTCCCTCGCCATAGAGCAGGCCCTGGAAGTGGAAGGGGCATGGTCAGCGGGGGACGGATTGCATGATTGATTCCACGTCCTCCCCCTCTGCCCCAGCTCATGAAGGTGGTGAACGAGGAGTGCCCCACCATCACCCGCACTTACAGCCTGGGCAAGAGCTCACGAGGCCTCAAGATCTATGCCATGGAGATCTCAGACAACCCTGGGGAGCATGAACTGGGTGAGGGTCTGTGGGGGCCAGCAGCTGGCCTCTGCTGCTGATGTGCAGAGCTCACTGCCTCCCGCCTGTTCCGGAGCCTCTCTGGGGATTCTGGCTTGTCTTACAGGGCCCTAGGAGCCCCAGCTGTCCCCCAGACCCTCGGGTATGAGGTGGGTCTGGGTCCTTCCTCAGCTGCCCTGGGCCTCGGGAGACTGAGTGCTCACTGAGGCTCCCGCCCTTGCAGGGGAGCCCGAGTTCCGCTACACTGCTGGGATCCATGGCAACGAGGTGCTGGGCCGAGAGCTGTTGCTGCTGCTCATGCAGTACCTGTGCCGAGAGTACCGCGATGGGAACCCACGTGTGCGCAGCCTGGTGCAGGACACACGCATCCACCTGGTGCCCTCACTGAACCCTGATGGCTACGAGGTGGCAGCGCAGATGGTGGGTTGAAGGGTGAGGCTGGCCAGGGTCCAGGCAGCTGGGGGTTGTGGGGGTGTGGGTAGCCGATGCCTACCCTGCTGGCTCCCCACAGGGCTCAGAGTTTGGGAACTGGGCGCTGGGACTGTGGACTGAGGAGGGCTTTGACATCTTTGAAGATTTCCCGGATCTCAACTCTGTGCTCTGGGGAGCTGAGGAGAGGAAATGGGTCCCCTACCGGGTCCCCAACAATAACTTGCCCATCCCTGAACGCTACCTTTCGCCAGATGCCACGGTGAGGCTACAGCCTGGCTGAAAGGGCAGGAGGGAGCAGCTGGACCCTGGGGTCCTGGTGTTCTGGGCTTGGGGGTGGGGCTGACGGTGCCTGAACTCCAGACGCTGAGGCTCTGGGGGTTGGGGGACAGGGGATCGTGCGAGTACTGGTGTGAAGCTTCATGGAGGGTGATCGGGCTAGGTTGGGGATAGTGGCCGGAGCTGCAGCCCTGGCCTCACACGTGCTGGCCACTCCAGGTATCCACGGAGGTCCGGGCCATCATTGCCTGGATGGAGAAGAACCCCTTCGTGCTGGGAGCAAATCTGAACGGCGGCGAGCGGCTAGTATCCTACCCCTACGATATGGCCCGCACGCCTACCCAGGAGCAGCTGCTGGCCGCAGCCATGGCAGCAGCCCGGGGGGAGGATGAGGACGAGGTCTCCGAGGCCCAGGAGACTCCAGACCACGCCATCTTCCGGTGGCTTGCCATCTCCTTCGCCTCCGCACACCTCACCTTGACCGAGCCCTACCGCGGAGGCTGCCAAGCCCAGGACTACACCGGCGGCATGGGCATCGTCAACGGGGCCAAGTGGAACCCCCGGACCGGGAGTGAGTCAGCCTGGGAGGGGCTGTGGGCGGGGCCTGGTCCGGAGAGGGGCTGACTTTGGGTCTGTATCTGTCCCCGGCCAGCTATCAATGACTTCAGTTACCTGCATACCAACTGCCTGGAGCTCTCCTTCTACCTGGGCTGTGACAAGTTCCCTCATGAGAGTGAGCTGCCCCGCGAGTGGGAGAACAACAAGGAGGCGCTGCTCACCTTCATGGAGCAGGTGGGGTGGCTAGGGCAATGCCTGGGGAGAGGAGGCTGCACAGGCTCCTGGATGGGCGGGAGGGAGCAGCGGACCACATTGGACCTTCCTGAGGACCAGCAGCCCTCACCTGCTTCCCTAGGTGCACCGCGGCATTAAGGGGGTGGTGACGGACGAGCAAGGCATCCCCATTGCCAACGCCACCATCTCTGTGAGTGGCATTAATCACGGCGTGAAGACAGGTACCTAGTGTGCACACCTTTACCCCATCTTTCTGAGGGAGGACCCGCCAGAGAGGGTGGGGGCTTGAGGAACTCAGCGAGCAGGTAGAGTCTGGGGAGCCTGGGGGCGAAATTCAGAGAGGGAGGGCGGTGCTGGGGGCGGGAACTCAGAGGGGGAGGGCGGGGCTGGGGGCAGGACTGAGTGGGAGGGTGGGGGCCTGGGAGGGGCGCTCTGGGGCAGCCGGATCGTTCTCCCTCCGCAGCCAGTGGTGGTGATTACTGGCGAATCTTGAACCCGGGTGAGTACCGCGTGACAGCCCACGCGGAGGGCTACACCCCGAGCGCCAAGACCTGCAATGTTGACTATGACATCGGGGCCACTCAGTGCAACTTCATCCTGGCTCGCTCCAACTGGAAGCGCATCCGGGAGATCATGGCCATGAACGGGAACCGGCCTATCCCACACATAGACCCATCGCGCCCTATGACCCCCCAACAGCGACGCCTGCAGCAGCGACGCCTACAACACCGCCTGCGGCTTCGGGCACAGATGCGGCTGCGGCGCCTCAACGCCACCACCACCCTAGGCCCCCACACTGTGCCTCCCACGCTGCCCCCTGCCCCTGCCACCACCCTGAGCACTACCATAGAGCCC
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GACCAGAGCTGCCCTCTGACTGTGCCCCCGATGTGCCGGGAGTGGGCTCTGGGCTCCTTGGTTCTGGGTTTGGTGGAGGGAAGGATGGAGCTAGTGAGCCACCATTCTGGGGTACGCGTCCTCAGAGTGTCCCCCCATTGGGATGGAGTCACACCGTATTGAGGACAACCAGATCCGAGCCTCCTCCATGCTGCGCCACGGCCTGGGGGCACAGCGCGGCCGGCTCAACATGCAGGTGGGCATTGGGATGGGCCCATCTCCCAACTGGGATAAGGGACTCCTCCGCCCATGCTCAGCCTCCCCTGCCCCCTGGACAGACCGGTGCCACTGAGGACGACTACTATGATGGTGCGTGGTGTGCCGAGGACGATGCCAGGACCCAGTGGATAGAGGTGGACACCAGGAGGACTACCCGGTTCACAGGCGTCATCACCCAGGGCAGAGACTCCAGCATCCAGTGCGTGGCCAGGCTCATGGATAGTTGGCAGAGGGGAGTGGCTACATAGGCATGGCTCTGTGTCCCATTAAGGAGATTCCAGTGGGCCCTTCTTTGGCCCAGCCAAAGAAGGCCAAAAAGATCAGTGAGGGACTCACCCTGCCCATCCCCACTCCTCAGCCTGGTCAGTCAGCCCCTGTGTCCTGATAGCACATGAGTTTAGGGACAGATCACCTGCCCATGGCTATGTGACGGGCATAGGACCCAGGCTCAACACCTGGGCCGTGCAGCACCACCCTGCTAGCTCTTAAATTCTTGGGGCTCGGAAGAGGGAGGCTCAGGCCACCTGAGGGCCTGGGAGGGGGAAGACCCTTGCTCTGACCACTGTCCACTCCACAGTGACGATTTTGTGACCACCTTCTTCGTGGGCTTCAGCAATGACAGCCAGACATGGGTGATGTACACCAACGGCTATGAGGAAATGGTGGGCACCATGCCCAGGCTCTTGGCTCTGCTCCCATTGTCTGGGCGAGGGGTGGGCTCTCAGAGGGGCTGGCAGTACTGCTCTGAGGCCTGCCTCTCCCCAGACCTTTCATGGGAACGTGGACAAGGACACACCCGTGCTGAGTGAGCTCCCAGAGCCGGTGGTGGCTCGTTTCATCCGCATCTACCCACTCACCTGGAATGGCAGCCTGTGCATGCGCCTGGAGGTGCTGGGGTGCTCTGTGGCCCGTGAGTGTGGAGGGCTGGCAGGGGCTCTGAGTGGAGGTGGGGTGCTAGGGTGGGCCAGCCGGCACCCAGCTAAAGACAACCCCGCCTCCCTTGCAGCTGTCTACAGCTACTACGCACAGAATGAGGTGGTGGCCACCGATGACCTGGATTTCCGGCACCACAGCTACAAGGACATGCGCCAGGTTGGGAGCATATATCCTGGGGCTGGGGGTGGGACCTGTCTGTGGCTGACGGGAGTGTGTGCCTGGTGCTTCTGTCACTGGGCCCAGTCCCTACTGGTTCCAGGGATGCTGGCTGTCCCTCACCTTAGGAAGGAGGCCAGTACCTGGGGGCTGCGTGAAGGGGTCATGCCCGTCCCTCGCCATAGAGCAGGCCCTGGAAGTGGAAGGGGCATGGTCAGCGGGGGACGGATTGCATGATTGATTCCACGTCCTCCCCCTCTGCCCCAGCTCATGAAGGTGGTGAACGAGGAGTGCCCCACCATCACCCGCACTTACAGCCTGGGCAAGAGCTCACGAGGCCTCAAGATCTATGCCATGGAGATCTCAGACAACCCTGGGGAGCATGAACTGGGTGAGGGTCTGTGGGGGCCAGCAGCTGGCCTCTGCTGCTGATGTGCAGAGCTCACTGCCTCCCGCCTGTTCCGGAGCCTCTCTGGGGATTCTGGCTTGTCTTACAGGGCCCTAGGAGCCCCAGCTGTCCCCCAGACCCTCGGGTATGAGGTGGGTCTGGGTCCTTCCTCAGCTGCCCTGGGCCTCGGGAGACTGAGTGCTCACTGAGGCTCCCGCCCTTGCAGGGGAGCCCGAGTTCCGCTACACTGCTGGGATCCATGGCAACGAGGTGCTGGGCCGAGAGCTGTTGCTGCTGCTCATGCAGTACCCGTGCCGAGAGTACCGCGATGGGAACCCACGTGTGCGCAGCCTGGTGCAGGACACACGCATCCACCTGGTGCCCTCACTGAACCCTGATGGCTACGAGGTGGCAGCGCAGATGGTGGGTTGAAGGGTGAGGCTGGCCAGGGTCCAGGCAGCTGGGGGTTGTGGGGGTGTGGGTAGCCGATGCCTACCCTGCTGGCTCCCCACAGGGCTCAGAGTTTGGGAACTGGGCGCTGGGACTGTGGACTGAGGAGGGCTTTGACATCTTTGAAGATTTCCCGGATCTCAACTCTGTGCTCTGGGGAGCTGAGGAGAGGAAATGGGTCCCCTACCGGGTCCCCAACAATAACTTGCCCATCCCTGAACGCTACCTTTCGCCAGATGCCACGGTGAGGCTACAGCCTGGCTGAAAGGGCAGGAGGGAGCAGCTGGACCCTGGGGTCCTGGTGTTCTGGGCTTGGGGGTGGGGCTGACGGTGCCTGAACTCCAGACGCTGAGGCTCTGGGGGTTGGGGGACAGGGGATCGTGCGAGTACTGGTGTGAAGCTTCATGGAGGGTGATCGGGCTAGGTTGGGGATAGTGGCCGGAGCTGCAGCCCTGGCCTCACACGTGCTGGCCACTCCAGGTATCCACGGAGGTCCGGGCCATCATTGCCTGGATGGAGAAGAACCCCTTCGTGCTGGGAGCAAATCTGAACGGCGGCGAGCGGCTAGTATCCTACCCCTACGATATGGCCCGCACGCCTACCCAGGAGCAGCTGCTGGCCGCAGCCATGGCAGCAGCCCGGGGGGAGGATGAGGACGAGGTCTCCGAGGCCCAGGAGACTCCAGACCACGCCATCTTCCGGTGGCTTGCCATCTCCTTCGCCTCCGCACACCTCACCTTGACCGAGCCCTACCGCGGAGGCTGCCAAGCCCAGGACTACACCGGCGGCATGGGCATCGTCAACGGGGCCAAGTGGAACCCCCGGACCGGGAGTGAGTCAGCCTGGGAGGGGCTGTGGGCGGGGCCTGGTCCGGAGAGGGGCTGACTTTGGGTCTGTATCTGTCCCCGGCCAGCTATCAATGACTTCAGTTACCTGCATACCAACTGCCTGGAGCTCTCCTTCTACCTGGGCTGTGACAAGTTCCCTCATGAGAGTGAGCTGCCCCGCGAGTGGGAGAACAACAAGGAGGCGCTGCTCACCTTCATGGAGCAGGTGGGGTGGCTAGGGCAATGCCTGGGGAGAGGAGGCTGCACAGGCTCCTGGATGGGCGGGAGGGAGCAGCGGACCACATTGGACCTTCCTGAGGACCAGCAGCCCTCACCTGCTTCCCTAGGTGCACCGCGGCATTAAGGGGGTGGTGACGGACGAGCAAGGCATCCCCATTGCCAACGCCACCATCTCTGTGAGTGGCATTAATCACGGCGTGAAGACAGGTACCTAGTGTGCACACCTTTACCCCATCTTTCTGAGGGAGGACCCGCCAGAGAGGGTGGGGGCTTGAGGAACTCAGCGAGCAGGTAGAGTCTGGGGAGCCTGGGGGCGAAATTCAGAGAGGGAGGGCGGTGCTGGGGGCGGGAACTCAGAGGGGGAGGGCGGGGCTGGGGGCAGGACTGAGTGGGAGGGTGGGGGCCTGGGAGGGGCGCTCTGGGGCAGCCGGATCGTTCTCCCTCCGCAGCCAGTGGTGGTGATTACTGGCGAATCTTGAACCCGGGTGAGTACCGCGTGACAGCCCACGCGGAGGGCTACACCCCGAGCGCCAAGACCTGCAATGTTGACTATGACATCGGGGCCACTCAGTGCAACTTCATCCTGGCTCGCTCCAACTGGAAGCGCATCCGGGAGATCATGGCCATGAACGGGAACCGGCCTATCCCACACATAGACCCATCGCGCCCTATGACCCCCCAACAGCGACGCCTGCAGCAGCGACGCCTACAACACCGCCTGCGGCTTCGGGCACAGATGCGGCTGCGGCGCCTCAACGCCACCACCACCCTAGGCCCCCACACTGTGCCTCCCACGCTGCCCCCTGCCCCTGCCACCACCCTGAGCACTACCATAGAGCCC
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Task1_train_11108
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With a mutation on Chromosome 7 in gene GCK (glucokinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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CCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGT
|
CCTGCTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGACCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGT
|
Task1_train_11109
|
A genetic alteration is present in GCK (glucokinase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
|
CTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTA
|
CTTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCATCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTA
|
Task1_train_11110
|
This variant lies on Chromosome 7 and affects the gene GCK (glucokinase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Monogenic diabetes
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CGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGT
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CGCGCCCAGCAGTGCCCCCCCGCCCCACCCTTTTTTTTTTAAGAGATGGGGTCTTGCTATGTTGCCCCAGGCTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCACCTCAGCCTCTCAAAGCACTGAGATTATAGGCATGAGCCATCACACTGGCCCATAACAAGTGTTTTATGACACCTCCTTTGTTATCTAGAAAAGAAATTCATTTTATCTATTTCAATTCAGTCATATAACCTACCTACGAATAGAATTTTAATAATTAATACAATGTCCTGAACTGTAATATAAAGGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCCACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGT
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Task1_train_11111
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A variant affecting Chromosome 7, within the gene GCK (glucokinase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Maturity-onset diabetes of the young type 2
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GGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTG
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GGAGAAATAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGCGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTG
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Task1_train_11112
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The gene GCK (glucokinase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Monogenic diabetes
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TAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAA
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TAGAAAGCAATTGATATTAAAATGTGTTCCACTCTGTGAATGCTTGAGCATAACAGTAATGATAACAAAATAATCAGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTCGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAA
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Task1_train_11113
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A variant found in Chromosome 7 affects GCK (glucokinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Hyperinsulinism due to glucokinase deficiency
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AGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGG
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AGATGCTTGCACCAACTTATAAGGAATAATTTAGACTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGAGGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGG
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Task1_train_11114
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Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Monogenic diabetes
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CTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTT
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CTCAAGAGAACTAAGAAGAGCCAAAGCAATTCCACATGAGAAGTAGCAGAAAACAAGAAATCTGAAGGGGGACATGACTTTTCAAAATCACAACTTTGGGTTATGATCTGAAGGAAACAAAACAGTTGTTCCTAATTAGCTGGGTAATATCTCTCATCAAAAAAGGAATGCATGAAAATCACACAAATATGTTTCTATGTCACTGTATTTTATGCTGCAGAAAGATGGCATTATGCCTACGCTTGGCTAACTCTAAATAGGCGTTCCACTGACAGGAGCATCTGGAGGGACCTTAGAAATCCAACATGTATCTGGGCCCCTACTCACTGGCAAACCTAAGTGACTCTGACTGGACAGGACGGTGCTGAGACTGACCTGCAGCAGGACCAGCCTCATTCCCCCACTTCTCCAGAGCAGCACCTGGCCTGGCACTCCCTCTGCACACATTCCATGGGCAGGCAAGCAGGGGCCCGGGCCAGGCAGTGTACTGTCCACTGCTCTGCCATCCCCCATGACACCCCATTCCTGTTCCTACAGCCTGGTCTGTCACTCCTCACACTCCCCTTGGCACAGATGGCTGGAGGAGCTGTCTGGAGGGCATTGCCGAGATACTGAAGTGTCTTCATGCATGTGACGCAGACTCTTTATAGATTGTCCCCACAGTCCTAATGCACAGAAGTCAAAGAACAGTGGACAGGCCATGTTTAAAACTTTTAACATTTTTAATTAAAAAACCCACACAATCTTAGGTTGGGCATGGAGAGGGTGGCATGTCATATGATGGGGTTGTCCCTTGGGGTGTGCTGAATGCTGCTTGGGGTTTCTTCCTGAGCCAGCGCTATGGGAGCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGAGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTT
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Task1_train_11115
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The gene GCK (glucokinase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Monogenic diabetes
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GCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTT
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GCTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCCCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTT
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Task1_train_11116
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The gene GCK (glucokinase), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Monogenic diabetes
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CTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTT
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CTGAAGATGTAGGGCTGGCCCTTCTCCCCTTTGTGGGCCCCTTGGGGCAGAGGCTTGGGGGCTCTGTCTCTTGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTTCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTT
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Task1_train_11117
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Here is a genetic alteration in GCK (glucokinase) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Maturity-onset diabetes of the young type 2
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TGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGT
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TGCACCTGCTGCGAGGGTCCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGTGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGT
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Task1_train_11118
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Consider a variant on Chromosome 7 in gene GCK (glucokinase). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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CCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAA
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CCATCCCAGAATCACAAGCCACTCAGTGATGGTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGGGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAA
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Task1_train_11119
|
This alteration occurs within gene GCK (glucokinase) located on Chromosome 7. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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GTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCT
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GTATGGGAGAGAAAAGGTCTCTGGGGGTATTCAAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCGCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCT
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Task1_train_11120
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Located on Chromosome 7, this mutation impacts GCK (glucokinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Maturity-onset diabetes of the young type 2
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AAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGG
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AAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACGTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGG
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Task1_train_11121
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A change on Chromosome 7 affects gene GCK (glucokinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Maturity-onset diabetes of the young type 2
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AAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGG
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AAAGCTTGGGACACCTCCTCCATGGAGCCCCCTCCCATTGCTCCCTGGGCCTCTTGAGCCTCAGGCAAGAAAATGGCCAGGACTGGGTGATGAGCAGCCCCTGGCTGCCCTTTTGGCCCAGGTCTAGGTCTGGTCAAGCTGTTGGAGCTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAATGCATCAAAGTCCTGAGTGAGCAACTCCCTTCTGGGAAATTGATTCCAGCGAGAAAGGTGGGGGGCTTCCAGAGTCTCTGTTCCTGCTCCTGCCGCACCCCCGTTAGGGCCCTGGGGCTGTCCCACCGAAAAACTGAGGGAAGAGGCCCGCTCTGTTCCCCAGCGGTATGGCAGGCGGCCTGGGTCCTGACAAGGCCAGGCCTCCTGCCCCGCCAGGCTGCGAGCACGTGTGGGGAGCACTTCCCCATGGAGCCTGGGTGCTGTGGGGCTGTGGCATCCTCCCTGCGCTTGCGGCCACTGCTCTCACTGGCCCAGCATACAGGCCTTCTTACAGGCCACCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGGGCTGCCGTCCCTCCTCCCACCTCATCCTCCACATTCATTACCGGGCGCCCTGCACGCAGTCGACCCTTCCCCCAAATCTAGGCCAAGGGGGACGAGAAGAGGACTACGAAATCTTGGAGCTTGGGAACCGCAAGGAACCTTGGAGCGCGCGCTTTTTGGGCCCCACTTTACCAGGGAGAGAGCGGGGCGGGCTCACCTGGGGTGCAGCTTGTACACGGAGCCATCCACGCCCACAGTGATGCGCATTACGTCCTCGCTGCGGCTCTCGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGAGCACATGTGCGCAGCGCGCGTAGACACGCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACTTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGG
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Task1_train_11122
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Here is a mutation in GCK (glucokinase) on Chromosome 7. 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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GCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAG
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GCTCTCGCAGGCGCGGCGCACGATGTCGCAGTCGGTGGTCGAGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCCTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAG
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Task1_train_11123
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This genomic variant is located on Chromosome 7, within the GCK (glucokinase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Monogenic diabetes
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTTGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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Task1_train_11124
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Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Permanent neonatal diabetes mellitus 1
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTTGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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Task1_train_11125
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A sequence alteration has been identified in GCK (glucokinase) on Chromosome 7. Is it disease-inducing or harmless?
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Pathogenic; Maturity-onset diabetes of the young type 2
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTTGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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Task1_train_11126
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The gene GCK (glucokinase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Type 2 diabetes mellitus
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTTGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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Task1_train_11127
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This sequence change occurs on Chromosome 7, altering GCK (glucokinase). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Hyperinsulinism due to glucokinase deficiency
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTTGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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Task1_train_11128
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A variant found in Chromosome 7 affects GCK (glucokinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Maturity-onset diabetes of the young type 2
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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AGGGTCGCAGCCCCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTTGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATC
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Task1_train_11129
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Here is a mutation in GCK (glucokinase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Monogenic diabetes
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CCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCG
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CCAGCGTGCTCAGGATGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCGGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCG
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Task1_train_11130
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Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Monogenic diabetes
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTTGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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Task1_train_11131
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Here is a variant affecting GCK (glucokinase) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Maturity-onset diabetes of the young type 2
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTTGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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Task1_train_11132
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The gene GCK (glucokinase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Maturity-onset diabetes of the young type 2
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTTGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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Task1_train_11133
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The variant affects gene GCK (glucokinase), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Permanent neonatal diabetes mellitus
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTTGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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Task1_train_11134
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This is a variant in GCK (glucokinase), located on Chromosome 7. Is this mutation a likely cause of disease or not?
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Pathogenic; Type 2 diabetes mellitus
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTTGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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Task1_train_11135
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A change on Chromosome 7 affects gene GCK (glucokinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Hyperinsulinism due to glucokinase deficiency
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTTGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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Task1_train_11136
|
A genomic change on Chromosome 7 affects GCK (glucokinase). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Maturity onset diabetes mellitus in young
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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TGTTGTAGATCTGCTTGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTTGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCG
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Task1_train_11137
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Here is a variant affecting GCK (glucokinase) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Maturity-onset diabetes of the young type 2
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TGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATC
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TGCGGTCGCCCGTGTCGCTGCGGGGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACACGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATC
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Task1_train_11138
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This genomic variant is located on Chromosome 7, within the GCK (glucokinase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not provided
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GGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCAC
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GGCGGGAGGAGGTAGGGCGGTCGCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCGGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCAC
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Task1_train_11139
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This mutation is located in gene GCK (glucokinase) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Gestational diabetes
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GCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCA
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GCTGAGTGTCGCTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTTCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCA
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Task1_train_11140
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Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Maturity onset diabetes mellitus in young
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CTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCA
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CTCCGACAGTCCATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGTCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCA
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Task1_train_11141
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A variant has been detected on Chromosome 7 in GCK (glucokinase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Monogenic diabetes
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ATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAA
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ATCCCCCTCCAGCGGCGGCCTCTCGTTCTCCAGGGAGGGGCCCCGGCCAGCCGTCCCCCCAGCGGCGGCCTCTTTCCCTCGCTGAGCCGGGACCCCTCTCTGGAGAAATGGGGGCGATCCCGCTCACCTCACCCAGCCAAAGCGTTTCCGCCAGGGACTGGTTAGTACTGCCCCCTCTAACTAAGCCCAGGGTCTCCGTCCTAACGTGGGGGTGTCAACCATGCCGCGCCTTGGGGTTGTGAGTGATGTGAGAGGATGGCCACGGCGGGCAGGGAGCACCGAGGGGACTCACGGATGGGGACCAGTGCCCGGACGCAGGCTCGCTCCCATCCCTGCTCTTGGCATCCCCGTCCGGACCCCGCCTCCTCCCCTTGGGCCCTCCCCCTCCTCCCCGTCTCGGGCCCCGCCCCTCCCTTTGCATCCCCGTCCTGTCCCAGCCTCCTGCCCTTGGACCCGTCCCTGCCCCGCCCTCGCCTCCAGCGCCCGGCCTCGGGCCCCGCCCACTCCCCCGCCCCCTGTGCCCCGCCCCGGGCCCCGCCCACGCCCGGAATCCCGCCCCAGGCCCTAGTTTCCCATCCCTGCGCCCCGGGCCTGGGACTCAGCGTCGCCCTGAGACCAAGTCTGCAGTGCCCGGGCGTCCCCAGCCCCTGCCCTTTGCACCCACCCTCCTCCTCCGCACACCTCTCCACCTGCGACACGAAGCGCGTCTCGAAGGCTCCGCGTGTGCGCAGCTGCTCGGAGGCCTCCCCGTGGAAGAGCAGGTTTTCGTCCACGAGCCTGAGCAGCACAAGCCGCACCAGCTCGCCCATGTACTTGCCACCTATGAGCTTCTCATACCTGGACATAGGGCAGGTCCATTACATCAGCAGGCACGAGGGAGGGCCCCTCATGCAGGTGGAAGCCGGGAGCCGGCCCCACTGCTCCCCACTGAGGTCACGAGGCGGCCACGTGGGGCACTGCGATCCCCACTCCCCCAGCTGGTTCACGTCTTTCCCTCGTTAATGAGCCAGAGCTTTAGAAATGTCAGGGATTAGGAACGTGCACGTTCAAGTCAATCACGGGAGCAACTTTGGCCTGCCCCTGGGCCCACTGCAGTAAAGGGAAAGACAGATAGTTCAAAGACCCCATCCAGTCCCTCCGAAACCTTCCTTGCAGGGGGCCCTGCGCCGAGCACGGGACCTACAGCTTCAGTCTTCCTTTAGCTGCATCCAGAGCTGCTGTTCATTGGCCAGTTATGGTTGGGAAAACTAAGACTTGGAGGGTTAGTGCCCAGTCAGAGGCACGCACCATGTTGCTGGCACTTTCTTGCTTAATCTATGACCTTCCGTATTTAATTTAAATAAATCGAATACTACTGACCTATAATAATAGAGGCCTGCGAGCGGCAGAGAGGACGCTAATAAAGTAATTAGCATAGGCCTGGCACAGTAGGTGGTAAACAAGTGATAGCCATGATTAATGATGAGCTCTCTGTGGGTTGGTTTCCAAGCTGTGACTGTCAACCCGCAGCATTCCACAAAAGACTAATATTCTTTCTGTGAATGTGGCCAAATACATACTTTGGGGAATGTTGGGTTAAACCCAGGAACCTTGCTGGGGGCGTCTCAGAGCCTCCTCTGCATGCACGATCACCTGTCGGAAGGAAAGAGGTCTGGGCTTATCACATCACAACTGGGACTAACCCTTCATCTCTCACAGGGGCAGGTCATGACTGAGCAGAAGGGATGGAGCTTACGAACGGATTGTCAGTTTGCTTTTCCCCAGAGTTGTTTAAAAACAAGCCCATTATCTGCAATGGCCCGGCTCCCATCTGCCGCTGCACCAGAGCGGCCCAGGGCCTGGGTTGTGGGGGAGGGGGGCATCCTTACAGCTGCTGACCGGGGTTTGCAGAGCTCTCGTCCACCAGGCGGTCATACTCCAGCAGGAACTCGTCCAGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCATGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAA
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Task1_train_11142
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This mutation is located in gene GCK (glucokinase) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Maturity onset diabetes mellitus in young
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AGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTAT
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AGCTCGCCGGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACCATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTAT
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Task1_train_11143
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A variant was discovered on Chromosome 7, affecting GCK (glucokinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Monogenic diabetes
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCTGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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Task1_train_11144
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A mutation on Chromosome 7 affecting GCK (glucokinase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Maturity-onset diabetes of the young type 2
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCTGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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Task1_train_11145
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Consider this mutation in GCK (glucokinase) on Chromosome 7. Is this a benign change or a disease-causing variant?
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Pathogenic; Permanent neonatal diabetes mellitus
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCTGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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Task1_train_11146
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A mutation found in GCK (glucokinase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Type 2 diabetes mellitus
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCTGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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Task1_train_11147
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A variant affecting Chromosome 7, within the gene GCK (glucokinase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hyperinsulinism due to glucokinase deficiency
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCTGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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Task1_train_11148
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Here is a mutation in GCK (glucokinase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Maturity onset diabetes mellitus in young
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCTGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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Task1_train_11149
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An alteration has been detected in GCK (glucokinase) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Maturity-onset diabetes of the young type 2
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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GGAGTCCCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCTGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTG
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Task1_train_11150
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This gene mutation involves GCK (glucokinase) on Chromosome 7. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Monogenic diabetes
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CCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCC
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CCCGAAGGCGCCCCACTCGGTATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTTGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCC
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Task1_train_11151
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This variant affects the gene GCK (glucokinase) found on Chromosome 7. 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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TATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGG
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TATTGACGCACATGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGCAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGG
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Task1_train_11152
|
Chromosome 7 houses a mutation in gene GCK (glucokinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Monogenic diabetes
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TGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCC
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TGCGGCCCTCGTCCCCCTCCACCAGCTCCACATTCTGCATCTCCTCCATGTAGCAGGCATTGCAGCCCGTGCCTGGGGTGGAGGTCGGGGGGACTGTCAGCGAGAGCTGCACTGCCCCGGAGTAGGGCCTGGTTCCTGCCCACAGGAGTCCCTCTCCCGCTCCCCCATGCCTGTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCTTCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCC
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Task1_train_11153
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Mutation context: Chromosome 7, Gene GCK (glucokinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Monogenic diabetes
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GTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCT
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GTCTCTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGGTAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCT
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Task1_train_11154
|
An alteration has been detected in GCK (glucokinase) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Maturity onset diabetes mellitus in young
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CTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCC
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CTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGTGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCC
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Task1_train_11155
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Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Maturity-onset diabetes of the young type 2
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CTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCC
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CTGCTTTGTCTGGAACAATGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGTGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCC
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Task1_train_11156
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Consider this mutation in GCK (glucokinase) on Chromosome 7. Is this a benign change or a disease-causing variant?
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Pathogenic; Monogenic diabetes
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TGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCC
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TGGAAAGGCGGCTCTCCCTGGGGCTGGAAGACCTGGGTTGCTTCAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCATGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCC
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Task1_train_11157
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The gene GCK (glucokinase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Maturity-onset diabetes of the young type 2
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CAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTG
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CAGTGGCCAGGGACAGCTTTCAGGGCTGTCCTCTTTCCTAACAGGCAACAGTAACACCTTCCCTGCCTGTTACCTAGGTGGTTGGGAGGACTGAGAGAAACAGTGTGTATCAAAGAAATGGTTGTGGGACGTTATCATTTTATTTTGTCTATGTACGACCCTTGTTTTCTGGCACTGTCCATGCACATGTTTGAGCTTCTTTGTCATGAGACATGTTTGGATGGCAACCCAAAGTGAGTAAGGCATGGTGTGGGCCCTTGGGAGCAGCCCAGAGGCTCCTGTAGACAATTCCGGATATGGAATTTTGTAATTTGCTGGCCCCTGTGCAGAGTGACAACATGGAGTCTTTTGTTCACAAGTTATTAAGAGTTTCAAACTGCTGACAGCAGAGCCTCAAGCTAGCATGACTGTGTGGGCTGCACACCCCCAAAGCTGTCAGGGACAGCAACTCAAATGCTGGTCAGTCGAGCTGCCACATAGGAATCAGGGCTCAGTGATGCTTAGACTTCCAGTTTTTATTTATTTATTTATTTATTTGGAGACAGAGTCTCACTCACTCCATCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTTAAGCAATTCTCCTGCCTCAGTCTCCTGAGTACCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTACACCTTGTTGGCCAGCTAGTCTTCAAATCCTGACCTCAAGTGACCCGCCTGCCTTAGCCTCCCAAAGTGTTGGGATTACTGGCGTGAGCCACCTTGCCTGGCTGCCTTCTAGTTTTTTATGAACAAACAGAAATCCAGACTTTGATGTGAATTCTCCTAATTTTCAGATCTTGGTAATTGTTATAAACATGTTTTTAAACACTGAGCAGAGTCAAGAGTGGATGTGGGGCAGATGTGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTGCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTG
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Task1_train_11158
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Assess the clinical impact of this variant on gene GCK (glucokinase), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Monogenic diabetes
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TGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCAC
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TGAGTGGTGGGTCACTCCTTGCCACCTCTGCCCCAGGAGGGGTTATGCCTGGGCCCAGCAGCTGCAGCTTGGCTTGGTGGGAATTCATGTGGAAGTGTCTTGGGGAGCCCCAGGCAGTTCCAGAGGATAGGGTGGAAAGGGCTGGGGGGATCACAGCCAGGGATGGCTGGGGCTCACGTTTAGATGCTGGATTTAAAGACAACGTTCCTTCTGAAAGGTGAAAATGGAAGTAAGAGAAGTATAGAACCACACGGCTGTGCGCACAGCAGATAACTGATCTGATTGGATTGCTCCTCAGTGAAGGCTGGTTATAATGACCTCCGGAACTTCTGAGAAAGGTCCGAGTTGGTGTGGAAGACCCCTCTGCTGGGAGGGGCGGACTGCTGCTCCCTTTCCTGGTACCTGCCTTCACTTTGGGTGGGGGCAGGGGCAGGGGCAGGCCCGTGGAAAGACCATTCGGGTGGAGATGGTACCACTTTTGCTTATCCTCTTCCACTTGGACCAATCTGTCCAGTTGGTCAATTTACCAGATAAGTGTTTTAATTATAATCCTGATGGGTGAGGTGGATATGCAGCTGGCATACCATCTGATGCAGGAATGTGGCATCATGGCGTTGAAATGCTTCCTACTGTACACGGTGCTTCCATCTTGATACCCCAAGACCACCCAGGCTGTAGCACCAGGCTCTGCTCTGACATCACCGGTTGTTAAGTAGTTTGGTCCTCACCCCACAGGGCCCTTGAAGCCTGTTGTACACAGGGAGCCTCAGCAGTCTGGAAGGGGCAGGGGTGCAAGGAGCCCTTACCCACGATCATGCCGACCTCGCACTGATGGTCTTCGTAGTAGCAGGAGATCATCGTGGCCACCGTGTCATTCACCATTGCCACCACATCCATTTCAAAGTCCTGCCAAGAAGCACAGAAGCTGCAGTGCTGGAAGCCAAGGAGAAAGGCAGGCAGTGCTGGGGTGGGTGGCCCAGGGCAGCCCCCCCGGCAGGTACAGGTGCCCCCTCACCCCTCTCCGTTTGATAGCGTCTCGCAGAAGCCCCACGACATTGTTCCCTTCTGCTCCTGAGGCCTTGAAGCCCTTGGTCCAGTTGAGAAGGATGCCCTGTGGGGAGAGATAGGCCTCGTGGCTGCTAACATATACTGGAGGCAGGGTGCTAGGGCCTGTCACTACCTCCTGCACAGGGCCATAAAAGTATGCACCCTACTTTACAGCTGAGGAAACAGGCTCAGAGCAGCCCCATAGCTTTGAGAGGTTTTGGGAACGATTCTCCTTGAAGATATCATATTTCTGCAGGGCTGAGTCCCAGCCAATTTAAGAATGTTGTACTGCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCGGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCAC
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Task1_train_11159
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Gene GCK (glucokinase), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Maturity-onset diabetes of the young type 2
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GCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAA
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GCACAGCTCTGAGACGTCATCCCAGAGTCAAGGCAGGGCGTGGGGGGAGCAGCTTTGTGTAAAATCAGGATTTCCCTCCTGCAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCGCTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAA
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Task1_train_11160
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A genomic change on Chromosome 7 affects GCK (glucokinase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Maturity-onset diabetes of the young type 2
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CAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGC
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CAAGGTACCCCGCTGCATGCACAGGTGCCACCTGGCCCTCTCTGTCTCTGTAGGGACTGGGGCTTGGAAAACCACATGAGATGTTGCTTTGGCTGCTGCTTCTGCCGTGAGTGAGGATCTGGCTTTCTCCCTGACCCAAAGGTCTCGTGTTTTATGTGTGTGCATATATAACTGTGTGTGTGTGTGCATGCACAGATGTAACTGGCAGGCCACTTTGCTAGCTTGCAGGAAGGGTAGAATCTCAGTTCCTTCACATTTCTGACTCAGCTAGAGGCAGTGTGACATGACCGTGGCCTGCAGGTGACCCAGAGCCCGGCTGCCTGAGTTTGAGCCCCACCCTACTGCCAGCTGCTCTTTCCACTGGAGTGGGGTGATCATAGCTGGTGCCTCACAAGGCGCACAGCCAGAATTAGCTAATGTGATGCTTCTTTTCCACAGCATTAGAGGTGGCAGGTGACATGGCCACAATTTGAATCCAGATCTCCCTTCTGAGCACATGGTATGGGGGCTACATTTGAAGGCAGAGTTCCTCTGGGGTGCCTGTGCCTCCCCTCATCTGCCTTCTGCCCCTCCACCCGGCCCACCTTATCGATGTCTTCGTGCCTCACAGGAAAGGAGAAGGTGAAGCCCAGGGGCAGCTTCTTGTGTTTCATCTGATGCTTGTCCAGGAAGTCGGAGATGCACTCAGAGATGTAGTCGAAGAGCTGGAAGATGCACGCCATGGTGACCATCTGGCATGGGGGGGTGCGCTGGCCGGCAGCCCTCCCCACGGCCTCAAGCCAAGCTATTCCTCAGGGACACTGCAACACCTGGCCACTGAATGCCAGGCCTGTCCACAGTTTCCCTCTCCTCTTCCGCTGCTGCTTGTTGGGCTCAGGCCCTAAGCCTCCCCCATGCCAGAGACCTGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCGGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGC
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Task1_train_11161
|
A genomic change on Chromosome 7 affects GCK (glucokinase). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Monogenic diabetes
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TGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGCTCAGAGGGTTGGAGATGCTCTGAATCCCAGCCAGGAGGCAAGACGGCCATTTTCCTCTTCTTCCTCAGTTTCTAGAACTCAGATTTTGTTGGTATGGGGAGCACATTGCGCCATGATTAATCTAAGGTGGGCACAGCAATTCTATACTCCTCTTACTGATGATCGGTCTAGAGTTGGGCATTTCACCCAGTTCTGGCCAATGACAGGTGAAGGGAAGCCTGATTTTAGCAGGGGAGGAGCTTCAATGTCCCCCTAAATTTGTAAACACAGCTGTGTAAGGATGTGATGGCCAGCGCTGTGATAGCCACCCTGCAACCATGAAGAAACAAGGCTGGAGGTTAAAGCTGTTAGCATACTGCAAATGTAGGGAAGAGAGAGTAATGCCAGATCCACCCTCCACGTGCAGCTTATGGGAGCAGACGCAAACCACTTATGCCACAGTGAGTCAGGTGTTTGTCTTCCTGCAGCCCAAAGCATTCCTAATGGATACAGATCTTTAGTTAAGAACCATGTCTCTTAATGAGGCCCCACATGTAAAATTTAAACTGAGGCAAGGTCAGAAAGGGATGGGGCTGATAAAGTCTGTGACAAAAGACACAGAATCAAACACCCATGTTGGCTGAGCAGGCACTGTTCCGAGGCTGTGAGCATGGGTGGGAGTGCACGCCCTCCCCGACCCCTAACCCTCCAATCCAGCTGCCCCTGCAGAGCACACCCCTGGAGATGTCCTCAGGGCTCTGTGGAACAATCCAGGCTGTCCTCAATGCCCCACAGCTACAACTTTTGCCTCCTCTGTCTTTCTTTCCTACACCCACCAATGTAGAGGATGCCAGGAACTAACTGTGAAGGCATCTGTCATTTGCTGAATTCCTCCATATGCCAGGCCCTGCATTAGGTGCTTCACA
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TGCTGACAGTGGCCCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCATGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGCTCAGAGGGTTGGAGATGCTCTGAATCCCAGCCAGGAGGCAAGACGGCCATTTTCCTCTTCTTCCTCAGTTTCTAGAACTCAGATTTTGTTGGTATGGGGAGCACATTGCGCCATGATTAATCTAAGGTGGGCACAGCAATTCTATACTCCTCTTACTGATGATCGGTCTAGAGTTGGGCATTTCACCCAGTTCTGGCCAATGACAGGTGAAGGGAAGCCTGATTTTAGCAGGGGAGGAGCTTCAATGTCCCCCTAAATTTGTAAACACAGCTGTGTAAGGATGTGATGGCCAGCGCTGTGATAGCCACCCTGCAACCATGAAGAAACAAGGCTGGAGGTTAAAGCTGTTAGCATACTGCAAATGTAGGGAAGAGAGAGTAATGCCAGATCCACCCTCCACGTGCAGCTTATGGGAGCAGACGCAAACCACTTATGCCACAGTGAGTCAGGTGTTTGTCTTCCTGCAGCCCAAAGCATTCCTAATGGATACAGATCTTTAGTTAAGAACCATGTCTCTTAATGAGGCCCCACATGTAAAATTTAAACTGAGGCAAGGTCAGAAAGGGATGGGGCTGATAAAGTCTGTGACAAAAGACACAGAATCAAACACCCATGTTGGCTGAGCAGGCACTGTTCCGAGGCTGTGAGCATGGGTGGGAGTGCACGCCCTCCCCGACCCCTAACCCTCCAATCCAGCTGCCCCTGCAGAGCACACCCCTGGAGATGTCCTCAGGGCTCTGTGGAACAATCCAGGCTGTCCTCAATGCCCCACAGCTACAACTTTTGCCTCCTCTGTCTTTCTTTCCTACACCCACCAATGTAGAGGATGCCAGGAACTAACTGTGAAGGCATCTGTCATTTGCTGAATTCCTCCATATGCCAGGCCCTGCATTAGGTGCTTCACA
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Task1_train_11162
|
A variant affecting Chromosome 7, within the gene GCK (glucokinase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Monogenic diabetes
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CCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGCTCAGAGGGTTGGAGATGCTCTGAATCCCAGCCAGGAGGCAAGACGGCCATTTTCCTCTTCTTCCTCAGTTTCTAGAACTCAGATTTTGTTGGTATGGGGAGCACATTGCGCCATGATTAATCTAAGGTGGGCACAGCAATTCTATACTCCTCTTACTGATGATCGGTCTAGAGTTGGGCATTTCACCCAGTTCTGGCCAATGACAGGTGAAGGGAAGCCTGATTTTAGCAGGGGAGGAGCTTCAATGTCCCCCTAAATTTGTAAACACAGCTGTGTAAGGATGTGATGGCCAGCGCTGTGATAGCCACCCTGCAACCATGAAGAAACAAGGCTGGAGGTTAAAGCTGTTAGCATACTGCAAATGTAGGGAAGAGAGAGTAATGCCAGATCCACCCTCCACGTGCAGCTTATGGGAGCAGACGCAAACCACTTATGCCACAGTGAGTCAGGTGTTTGTCTTCCTGCAGCCCAAAGCATTCCTAATGGATACAGATCTTTAGTTAAGAACCATGTCTCTTAATGAGGCCCCACATGTAAAATTTAAACTGAGGCAAGGTCAGAAAGGGATGGGGCTGATAAAGTCTGTGACAAAAGACACAGAATCAAACACCCATGTTGGCTGAGCAGGCACTGTTCCGAGGCTGTGAGCATGGGTGGGAGTGCACGCCCTCCCCGACCCCTAACCCTCCAATCCAGCTGCCCCTGCAGAGCACACCCCTGGAGATGTCCTCAGGGCTCTGTGGAACAATCCAGGCTGTCCTCAATGCCCCACAGCTACAACTTTTGCCTCCTCTGTCTTTCTTTCCTACACCCACCAATGTAGAGGATGCCAGGAACTAACTGTGAAGGCATCTGTCATTTGCTGAATTCCTCCATATGCCAGGCCCTGCATTAGGTGCTTCACATAGCAGCCTCACA
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CCTCGGGACAAGGCAACACAGGGCAGGCTGGTCCCTGGCCCGGCTGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGAATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGCTCAGAGGGTTGGAGATGCTCTGAATCCCAGCCAGGAGGCAAGACGGCCATTTTCCTCTTCTTCCTCAGTTTCTAGAACTCAGATTTTGTTGGTATGGGGAGCACATTGCGCCATGATTAATCTAAGGTGGGCACAGCAATTCTATACTCCTCTTACTGATGATCGGTCTAGAGTTGGGCATTTCACCCAGTTCTGGCCAATGACAGGTGAAGGGAAGCCTGATTTTAGCAGGGGAGGAGCTTCAATGTCCCCCTAAATTTGTAAACACAGCTGTGTAAGGATGTGATGGCCAGCGCTGTGATAGCCACCCTGCAACCATGAAGAAACAAGGCTGGAGGTTAAAGCTGTTAGCATACTGCAAATGTAGGGAAGAGAGAGTAATGCCAGATCCACCCTCCACGTGCAGCTTATGGGAGCAGACGCAAACCACTTATGCCACAGTGAGTCAGGTGTTTGTCTTCCTGCAGCCCAAAGCATTCCTAATGGATACAGATCTTTAGTTAAGAACCATGTCTCTTAATGAGGCCCCACATGTAAAATTTAAACTGAGGCAAGGTCAGAAAGGGATGGGGCTGATAAAGTCTGTGACAAAAGACACAGAATCAAACACCCATGTTGGCTGAGCAGGCACTGTTCCGAGGCTGTGAGCATGGGTGGGAGTGCACGCCCTCCCCGACCCCTAACCCTCCAATCCAGCTGCCCCTGCAGAGCACACCCCTGGAGATGTCCTCAGGGCTCTGTGGAACAATCCAGGCTGTCCTCAATGCCCCACAGCTACAACTTTTGCCTCCTCTGTCTTTCTTTCCTACACCCACCAATGTAGAGGATGCCAGGAACTAACTGTGAAGGCATCTGTCATTTGCTGAATTCCTCCATATGCCAGGCCCTGCATTAGGTGCTTCACATAGCAGCCTCACA
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Task1_train_11163
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A variant has been detected on Chromosome 7 in GCK (glucokinase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Monogenic diabetes
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TGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGCTCAGAGGGTTGGAGATGCTCTGAATCCCAGCCAGGAGGCAAGACGGCCATTTTCCTCTTCTTCCTCAGTTTCTAGAACTCAGATTTTGTTGGTATGGGGAGCACATTGCGCCATGATTAATCTAAGGTGGGCACAGCAATTCTATACTCCTCTTACTGATGATCGGTCTAGAGTTGGGCATTTCACCCAGTTCTGGCCAATGACAGGTGAAGGGAAGCCTGATTTTAGCAGGGGAGGAGCTTCAATGTCCCCCTAAATTTGTAAACACAGCTGTGTAAGGATGTGATGGCCAGCGCTGTGATAGCCACCCTGCAACCATGAAGAAACAAGGCTGGAGGTTAAAGCTGTTAGCATACTGCAAATGTAGGGAAGAGAGAGTAATGCCAGATCCACCCTCCACGTGCAGCTTATGGGAGCAGACGCAAACCACTTATGCCACAGTGAGTCAGGTGTTTGTCTTCCTGCAGCCCAAAGCATTCCTAATGGATACAGATCTTTAGTTAAGAACCATGTCTCTTAATGAGGCCCCACATGTAAAATTTAAACTGAGGCAAGGTCAGAAAGGGATGGGGCTGATAAAGTCTGTGACAAAAGACACAGAATCAAACACCCATGTTGGCTGAGCAGGCACTGTTCCGAGGCTGTGAGCATGGGTGGGAGTGCACGCCCTCCCCGACCCCTAACCCTCCAATCCAGCTGCCCCTGCAGAGCACACCCCTGGAGATGTCCTCAGGGCTCTGTGGAACAATCCAGGCTGTCCTCAATGCCCCACAGCTACAACTTTTGCCTCCTCTGTCTTTCTTTCCTACACCCACCAATGTAGAGGATGCCAGGAACTAACTGTGAAGGCATCTGTCATTTGCTGAATTCCTCCATATGCCAGGCCCTGCATTAGGTGCTTCACATAGCAGCCTCACACACTATGCCCTGTCACCACAGCACCGGGGAGGAGGTGCCAGCAG
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TGTGCTCTGTCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCAGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGCTCAGAGGGTTGGAGATGCTCTGAATCCCAGCCAGGAGGCAAGACGGCCATTTTCCTCTTCTTCCTCAGTTTCTAGAACTCAGATTTTGTTGGTATGGGGAGCACATTGCGCCATGATTAATCTAAGGTGGGCACAGCAATTCTATACTCCTCTTACTGATGATCGGTCTAGAGTTGGGCATTTCACCCAGTTCTGGCCAATGACAGGTGAAGGGAAGCCTGATTTTAGCAGGGGAGGAGCTTCAATGTCCCCCTAAATTTGTAAACACAGCTGTGTAAGGATGTGATGGCCAGCGCTGTGATAGCCACCCTGCAACCATGAAGAAACAAGGCTGGAGGTTAAAGCTGTTAGCATACTGCAAATGTAGGGAAGAGAGAGTAATGCCAGATCCACCCTCCACGTGCAGCTTATGGGAGCAGACGCAAACCACTTATGCCACAGTGAGTCAGGTGTTTGTCTTCCTGCAGCCCAAAGCATTCCTAATGGATACAGATCTTTAGTTAAGAACCATGTCTCTTAATGAGGCCCCACATGTAAAATTTAAACTGAGGCAAGGTCAGAAAGGGATGGGGCTGATAAAGTCTGTGACAAAAGACACAGAATCAAACACCCATGTTGGCTGAGCAGGCACTGTTCCGAGGCTGTGAGCATGGGTGGGAGTGCACGCCCTCCCCGACCCCTAACCCTCCAATCCAGCTGCCCCTGCAGAGCACACCCCTGGAGATGTCCTCAGGGCTCTGTGGAACAATCCAGGCTGTCCTCAATGCCCCACAGCTACAACTTTTGCCTCCTCTGTCTTTCTTTCCTACACCCACCAATGTAGAGGATGCCAGGAACTAACTGTGAAGGCATCTGTCATTTGCTGAATTCCTCCATATGCCAGGCCCTGCATTAGGTGCTTCACATAGCAGCCTCACACACTATGCCCTGTCACCACAGCACCGGGGAGGAGGTGCCAGCAG
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Task1_train_11164
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Here’s a variant in GCK (glucokinase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Monogenic diabetes
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TCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTCCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGCTCAGAGGGTTGGAGATGCTCTGAATCCCAGCCAGGAGGCAAGACGGCCATTTTCCTCTTCTTCCTCAGTTTCTAGAACTCAGATTTTGTTGGTATGGGGAGCACATTGCGCCATGATTAATCTAAGGTGGGCACAGCAATTCTATACTCCTCTTACTGATGATCGGTCTAGAGTTGGGCATTTCACCCAGTTCTGGCCAATGACAGGTGAAGGGAAGCCTGATTTTAGCAGGGGAGGAGCTTCAATGTCCCCCTAAATTTGTAAACACAGCTGTGTAAGGATGTGATGGCCAGCGCTGTGATAGCCACCCTGCAACCATGAAGAAACAAGGCTGGAGGTTAAAGCTGTTAGCATACTGCAAATGTAGGGAAGAGAGAGTAATGCCAGATCCACCCTCCACGTGCAGCTTATGGGAGCAGACGCAAACCACTTATGCCACAGTGAGTCAGGTGTTTGTCTTCCTGCAGCCCAAAGCATTCCTAATGGATACAGATCTTTAGTTAAGAACCATGTCTCTTAATGAGGCCCCACATGTAAAATTTAAACTGAGGCAAGGTCAGAAAGGGATGGGGCTGATAAAGTCTGTGACAAAAGACACAGAATCAAACACCCATGTTGGCTGAGCAGGCACTGTTCCGAGGCTGTGAGCATGGGTGGGAGTGCACGCCCTCCCCGACCCCTAACCCTCCAATCCAGCTGCCCCTGCAGAGCACACCCCTGGAGATGTCCTCAGGGCTCTGTGGAACAATCCAGGCTGTCCTCAATGCCCCACAGCTACAACTTTTGCCTCCTCTGTCTTTCTTTCCTACACCCACCAATGTAGAGGATGCCAGGAACTAACTGTGAAGGCATCTGTCATTTGCTGAATTCCTCCATATGCCAGGCCCTGCATTAGGTGCTTCACATAGCAGCCTCACACACTATGCCCTGTCACCACAGCACCGGGGAGGAGGTGCCAGCAGCACCCATCT
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TCAGCCTAGCCCTCCCAGCTGAACCTTGTGAGGTTCAGCCTCAGGCCTGGCCAGCTATTCCTGAGGCTCCACATGGAGGCACATCCTTGATTTCTGTCTCCAGCACCCGGAGTCTCCTTTTCTACTTCTAGGGGCCCTGGCCACCCATCCTTACTGAAGACCAGCCCCGACTCCCCTCACACGGGCCTCTCCATGGAACTGGATACTGCTGAATGCTCTGCTGACTGACCAGGCTCCTCACTGGCTGCTGGGGCCAGGGAGGTCCCCACACCATCCCACTGCCTTGATTCACACCCAGCCCACAGACAGACTAGCAAGCTGCAGGGGTGTGAGGACGGGTAGCCACGGGCAGCCTCCTGCCTCCTGCCTCGGAGCCCTGCCCTTCCAGGAGCTGGCCTTGGCCATGTGCTTGGCTGCAGCTAGGGCTCTGGCCTTGCCCAACTCCCCCTAGGCCTCATTCTGCTTCTATGTTCCCTGCACCCCAGTCCTCCCCATGGTCAGGGGTCCTTGCTGCCTGGGTAGACATTGTGATTGCTGTCACCCCACTTTCTGTGCATGCTGGTGGAGGGTGAGGGGTGGCCTTTGGAGAGGGGGGCAGTGCACTGGCTGCCGGGTCACATTTCTGTTCTTACACATTGGTTTTTCCTCTGGTAAACTGGACAAGGTGTGACTGGCTGGGGTTCCTCTTGCCACTAACTCTTCCTCAGCCCGTTCCCCTCTCAATGCTGGCCAGATGGTGACTGTGGGACTTGGGGACATGTTGGCCAGTCCTGTTCACCCAGGCCTCCAGCTGCCTCTGAGGCTGGGTGGTCCTCCAGCCCCCGCTCTCCCCACCCCTGGTAGACAGGTGGCACCTCCCGTCAGGACTAGCTGGGCCCTGAGATCCTGCATGGCCTTGGCCCCCTGCCCCGGCCCCTGCGCTGCTCACCATCTCAGCAGTGCCGGTCATGGCGTCCTCGGGGATGGAGTACATCTGGTGTTTGGTCTTCACGCTCCACTGCCCCTCCTCACCTTCTCCCACCTTCACCAGCATCACCCTGAAGTTAGTGCCACCCAGGTCCAGGGAGAGGAAGTCCCCGACTTCTAAAGGCACAGAGAGAAGTGTGTCAGCCTCAGGGACACCCACAGGCTGGCCTTGGGCTGGGTGGGCCCCAGGTGACTGAGCCCGGATATTACAAAGAGGAGGAGGGAAGGCACAAGGGACTAAGGGAGCTGGACAAGGGGCCACCAGACACCTGGGGACACCAGTGTCAACTGTGGAAGGGGTCAAAGGTCAACCAGGGAAAAGTCAATGGGAAACTCCTGCCCTGGACAGTCACCGAGAGCCCAGGGACCAACTGAGGATCTAGTGCAATGGCCCAGCTGCAGAACTGGGCTGGGAGAGTTCCCTAAGTGCCCATGGGGAGCAGTGAGGTCTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTCACCCTGTCACCCCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCGGCCTCCCGGGTTCAAGCAATTCTTATGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGAATGTGCCACCATGCCTGGATAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTGGTCTCAAACTCCTGGCCTCAAGAGATCCGCCTGCTTTGGCCTCCCAAAGTGTTGAAGTTACAGGGGTGAGCCACTGCACCTGGCCAGGAGTGAGATTTAAAACGCCAGTTTTCCTGAGGTTTGCCAGCTCCAGGGTGAGCCCGAGTGCCCCAGGGCCGGACCAGAGGAGCCAAGGGTGAGAACTGGCCCAAGTCGAGGACTTCATTGCTCCCCAGGAGATTCTGTCTCGGGCTGGCTGTGAGTCTGGGAGTGCCTGGGGTGCTTCTCCCAGCTAGGGCTGAGCCCACAGCTGCTTCTGGATGAGGAGCCGGTTACCATGTGGTACCTGAGCCTTCTGGGGTGGAGCGCACGTAGGTGGGCAGCATCTTCACACTGGCCTCTTCATGGGTCTCCAGCCTCAGGCCGCGGTCCATCTTCTTCTGCATCCGTCTCATCACCTTCTTCAGGTCCTCCTCCTGCAGCTGGAACTCTGCCAGGATCTGCTCTACCTGCACAGGGAGGGGGATGGGAGCAGTCGGGCTGGGGAGGGGGTAGGCTGGGGACCTCAGGGTGGGGCTGTCACCAGGCATCTGCACACCGAGGGCCTCACGGGGCATCTCCCCCACACGCCATGGGCCTCCTTCTGTCTTCTGACCCCGGGGTCAGGATGACCCATCTTCTCAAACTTTACTACAGGTAAAACCAGCTGGAAAGTCAGAAGAGCAGAGTCTGGTACCAGCCACTCAACAAATGCAGCCCACAGCGTGTTGGAGGGGTGAGCAGCAGAGGGCAGAGTAGCTTCTGTCCCTGACGATATCCCTGTGGCACAGCGTCCTGTAGCACCCTGCTTCGTCCCTCAGGTCAGAGCCAGGGAAAGGAGGGGCTAACTGGGAGAGCTGGCGAGGTGGGGCTTGAGCCACCTGTCTGGAGGGTGCCAGGCAGCTGGCATTGCTGTCAGAGAGACCCAGTCCTCCTACTTGGGATTTACACAAGAAAATAAATGGGCCTGTCTGCACAGGTGTGCTAAGGGCCAGCCAGGAGTGAGTGTGAGTGTCTAGAAGGAGGTGTCTGCTGACTGAAGCCATCTGTGGCATGGGCACACTGGGCCACAGAACAAAGAGGGTCCCTATGCACTGATGTGAGAGACGCCTGGGCACACGAAGCTCAGATCTGATACTGCCACTCCCGTGAGCATGGACGGCCCATGGTGTGGCTGCTGGCTCTCCACATGGCAGTGTGAGGACAGGCCGTGAGTGCAGATGTGACTCTGCCTATGCATCCCCAGCAAGCTGGTGTGTGGACAGCTATGTGTCTGTCCACTGGGCACCCTAGTGCTATTCATGGAGAAAAGGCCATGTTAATGTGCTGGTTATCTCTGGGCAGTGGTGAGAAAAATAATCATAAGAATATTTTCATCTTGAATCAAAAAGAAAAAGGAAAGATGCTCTGATAAAAGCCGTGGATCCATTCCACAAAAACTCACACACTTTTGCCCACAGTCTTACACATAAGCTCAGAGGGTTGGAGATGCTCTGAATCCCAGCCAGGAGGCAAGACGGCCATTTTCCTCTTCTTCCTCAGTTTCTAGAACTCAGATTTTGTTGGTATGGGGAGCACATTGCGCCATGATTAATCTAAGGTGGGCACAGCAATTCTATACTCCTCTTACTGATGATCGGTCTAGAGTTGGGCATTTCACCCAGTTCTGGCCAATGACAGGTGAAGGGAAGCCTGATTTTAGCAGGGGAGGAGCTTCAATGTCCCCCTAAATTTGTAAACACAGCTGTGTAAGGATGTGATGGCCAGCGCTGTGATAGCCACCCTGCAACCATGAAGAAACAAGGCTGGAGGTTAAAGCTGTTAGCATACTGCAAATGTAGGGAAGAGAGAGTAATGCCAGATCCACCCTCCACGTGCAGCTTATGGGAGCAGACGCAAACCACTTATGCCACAGTGAGTCAGGTGTTTGTCTTCCTGCAGCCCAAAGCATTCCTAATGGATACAGATCTTTAGTTAAGAACCATGTCTCTTAATGAGGCCCCACATGTAAAATTTAAACTGAGGCAAGGTCAGAAAGGGATGGGGCTGATAAAGTCTGTGACAAAAGACACAGAATCAAACACCCATGTTGGCTGAGCAGGCACTGTTCCGAGGCTGTGAGCATGGGTGGGAGTGCACGCCCTCCCCGACCCCTAACCCTCCAATCCAGCTGCCCCTGCAGAGCACACCCCTGGAGATGTCCTCAGGGCTCTGTGGAACAATCCAGGCTGTCCTCAATGCCCCACAGCTACAACTTTTGCCTCCTCTGTCTTTCTTTCCTACACCCACCAATGTAGAGGATGCCAGGAACTAACTGTGAAGGCATCTGTCATTTGCTGAATTCCTCCATATGCCAGGCCCTGCATTAGGTGCTTCACATAGCAGCCTCACACACTATGCCCTGTCACCACAGCACCGGGGAGGAGGTGCCAGCAGCACCCATCT
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Task1_train_11165
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A mutation on Chromosome 7 affecting CAMK2B (calcium/calmodulin dependent protein kinase II beta) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Intellectual disability, autosomal dominant 54
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GGGCGGACACAGACGAGGGGTGGGCGAGGTAAGGGAAGAAAAGAGACAAAGGAAGCAGAAGAAGATTAGAGTTAAAGTTTAGGTGACAGATGGTTCCAGAATCCTTTGCTCAAGAGAGTGAAAACAAGATTGGACTGATTGACACGGAAAAGCATTTGCCTCCTTTCTCCTTAGAAAACCCCAGTGGGGGCTTCTCATGCCCAAAGGGTGTGGTGAGCACACAGCAGACAGGACAGTCCTATTAGTGTTGGTGTGACCGTGTGCACGCGTTCCCGGCATTACAGCATCACAGCAAAAGTAACAGGATGGCGGGTGGGGGGCACCAGATGCAAACGGACAACGAGAGAGACGGATCACAGACGCTCGCACACGGAGTGTCGGACGACGGAGAAGCCACAGGTACAGCTTGTCCAGACCTGGGCTGCCGGCTCCACTCCGGGGCTAACATCATGCCCGATGGGTCTGCCAGCGCCCTGGGCCTCAGGGGTCTATAACAGACCCCACCCCCCTGCCAAGAGAACTTGCTTCCCAACCACCCACCCTGAGCAGCCGGGACAGGAGGCTGCAGCTCATCCAGAACTTGGAAGGAGGCCCCCGAGCCTCCCGCATCACCCCGCATCCCTTCTGCCCACCTCCCGCACAAAACACAATGTTCAGAGCACTCAAAATGACAAGGAGGCCACATAGATGCCCGACAAACGCCTGGACAGACACACACGATGCTGTGAGCCCCAGTGGGGCAGCACAGACGCTCGTGTTCAGGGGGTGGAGGGACACAGACCCAGCACGAAGGTGATGGCCTCGGGGGGCTGGACCCTGTGGTATCACCCAAGGTGGGAGCCCAGCGGGGCCAGGTGGGCAGTGGGTCTCAGAGCTGAGGGCAGACGCCGAGGGCAGGCCTGCCGCAGAGGAGGAGTGGAGAGGCTGGTGAGGAAGGAGGCGCTCTCCTGCGTGGGCCAGCAGGGAGGGGGCAGCGCCTGTCTCCCTGGAGAAGAAAGGCTCACCTGAGAAATTCCGTGTGGCCAGCATGGTGGTGAGGATGGCTCCCTGGGGAGAGACACAGATAAAACCGGGGCTATCCCATCAGTGTTCCCTGCTGGCTTCTGGCCAGGATAAGACCCCTGTCCTCCTGCCCAGATGCTCAGCCTCATTGTCATGAGGCTGACATGACCTCAGCCTTCCAGAGAGGCAAGAGCTCCAGGAAGCCAGCAGCCGCACTGAGACAGATCACCTATTTCCAGAACTACACACACCCTGGGCCTAAACCTGTTGACCAACTACAGCTTCTAGCTGCTTCAAGACCCCTCAAGCCTCAGGGGTCACCAGAACAGCTGGTCACCACGGCAGCTCCTCTGGGGTCCAGCTCCCTGACAGCCCCTTCTTTTCCTGACAGGCTCAGACAGGGCAACAGTCCTGGGGCTTCCGGGGAGAACTGCTCAGAGACCAGCAGAGGGCAGTCAGGCAACAAGTCCCCATCCCGGAACCCACAAGTAGAGGGACTGCCAGTGTGCGGTCACCGGAGCCAGCCCTGACCAAAGCAGGCAGGTTGGATACCCTACTGGGACCCACCTCCCTCCCAGAACTCCCCCAGCCCACCCAAGACCAGTGTGTGTGGCTCTGCTCTCCTTACCAAACCTGTCTGAGCCGGAAGCTTCGGACTTGCTTGTACTAAACAGTGTGACTGCCAGAGGGTGAGTGCTGCCTGCAGAGCCCGGGTGAGGAGCCCACAGCGAGCGCTTCAGGACAGCTCCTCCAAGGGCTGCTAGGAGGTGGCACAGACAACTAGGAGGAGCCACACCTGGCCCAGGGCCCCTCTGGACTCATTCCCAAGCTGGCCTGAGTTCACCTGATGCATCCAGTCTGGGACTTGCTAACAGTCAGTCTTGGGGGCAGCAGTAACCCCTAGGTCTGCCCAGACCCCCCAAGGCCCCCCTGCTCCAGCCCAGAGGGACACAGAGAAGCATGGCCGTGCCTGGGACTAGGGGCCAGGGCCTCACCTTGAGCTTTCTCCTGGCATTGAACTTTTTCAGACACTCCACAGTCTCCTGTCTGTGCATCATGGATGCTACCGTGGAGCGTTGCTGTGGGGAAATGGGTGGTCATATGGCAGCCGAGCCCGAGGCACAGGGGAGAGGCCAGGGTGGCAAGGCTTGTGGCACCCTGGGGTCCCCACTTGCCAAGAGCCACCGGCCACCATTGCGGCAAGGGTTGTCTGTCCCCACCCGCCTGGGACTTCAAGACTCGTCTCTCCCTTGCCTCGTCCACTCTGCCCCTCACAGACAGGACTGCAGTTGGGAGGAAGGGATCACCTCTACCCTCTAATGCCTTCCAAGCCCCAGGCCTCACAAACGTGCTGGTATGTCCCAAGCCAGAGGCCACAAGGAGCACCCAGGGGACCCAAGGGAGCTCTTGGATGTCAGGAACAGGACCCTCTTGGGGTCCTTGCCAGGGGAGTGGTCTGAGGCCATCTCCACCAGGAGCCCCCTCCCCACCATGGGCACCAAGGGCGACTCACGCAGACCCACGGGTGCTTCAGGGCCTCATGGGCTGTGATGCGCTTGGCAGGGTTGATGGTCAGCATCTGGTTGATGAGGTTTTTGGCTTCAGGAGTGACGGTGTCCCACTCAGGGGACGGGAACTGCAGAAGGAAACAGCGCCCCGGCCGGGCCTGAAGCTCCCTCTCAGGCAGGGGCAAGAATTCTCCAAGGGGCTTCATCTCCAGCCACGAATCTGGGAGAGCAGGACCCAGGACCTGGCCACAGGTGGCTTCACCCCACTCCTAGCCTCTTCCCACGCTGCCCTCACCCGGCCACACCTGGAGGAAGGGAGCTCATCAGAGAGGGGCTGGTGCACTCACGTCATAGGCACCAGCCTTGATCTGCTGGTACAGCTTGTGCTGGTCCTCGTCCCAGAAGGGTGGGTAGCCCACGAGCAGGATGTACAGGATCACCCCTGCGGATGGGGCCTGTGAGCACCGCAGCCACTTGCAGGGTGCCACCGTCCATGAAGCCCATGCCCTGCACCCTCACTGCCTAGCTCCTGTGGCCCTGGGAGGGCATTGGGGTCCTCAGCATTCCTTTGCCCCCACCTGTGCAGCAGACACTGGGGTAGAAGGGCACAGCCGGCCCCCTGACCTCTGCCCCACACCCACACTATCACAGGGATGAGGGTGATGTCAAGCCCCTCTGCTGCTCCCCACCTCTGTGGGAGGAGACCCCTACCCAAGGAGGTGGCCCTGCCCATGGCCCAACAGCCCCTGACCTCTCTTCTCCACTCCCATCCACCCACCACACTTCTGGACCAGACCTCTGCTGAGCGCAGGCGAGCACTGGGGTGCGCCAGGTTCATGTGAGCAATTCTAATCTGGGTGGAAAGGGGGCTCTTGGCTGTGTGGGCAGACCCCTGCCAGGGCAGCTCAAGGGCAGGTCTGACACAGATAAACCCAGATGAGAGCAAGACGTGCTGGCCACTGCACACTCCAGGATGTAGGTGGGAAGTCCTGAAACACCCGAGGCCCTGCCCCGCACCAACTCAGGCCAGGCCTCACCACATGCCCAGATGTCCACAGGCTTGCCATACGCCTCTTTGCGAAGGACCTCAGGGGACAGGTAGCCTGGTGTGCCAGCGAAACCTAGAGAGAGGGGAAGAGGCCACAAGGGGCTGTCAGCATCACCTCCTGCCCTGCCAACTGCCAGCCAACACACCCTGCCCCTGGCACTCACCAAACCATGCCTGCTGGTCCCCCTGCACCTCGATAGCTAGGCCGAAGTCTGCCAGCTTCACTGCAGCCCCTTTGCACTTGCTGGCCAGAAGCAGGTTCTCCGGCTGCAGGGAGGTGACCGGCACAAGGGTGCATGTTGTTTAAACCCAGAGGTGTTATGTGGGGTTGGGTGGGGGGTTACAAAACAGAGAAAACAGTGGTTTGCAAGAGACAGGTGCACAGGTCTGAGCCCTGCCCCATGGTGTCTGCAGGGCATGGCTGAGCCTTCACCCCAGAGTCCCAGACGCTGAGCCTGCAACCCCACAGCCCCTCTGCCCCTGGGGACAGAGACACAGCAGCTCTGGCCTTTCAGAGGAAACTTGGCTCTCAGCCTGA
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GGGCGGACACAGACGAGGGGTGGGCGAGGTAAGGGAAGAAAAGAGACAAAGGAAGCAGAAGAAGATTAGAGTTAAAGTTTAGGTGACAGATGGTTCCAGAATCCTTTGCTCAAGAGAGTGAAAACAAGATTGGACTGATTGACACGGAAAAGCATTTGCCTCCTTTCTCCTTAGAAAACCCCAGTGGGGGCTTCTCATGCCCAAAGGGTGTGGTGAGCACACAGCAGACAGGACAGTCCTATTAGTGTTGGTGTGACCGTGTGCACGCGTTCCCGGCATTACAGCATCACAGCAAAAGTAACAGGATGGCGGGTGGGGGGCACCAGATGCAAACGGACAACGAGAGAGACGGATCACAGACGCTCGCACACGGAGTGTCGGACGACGGAGAAGCCACAGGTACAGCTTGTCCAGACCTGGGCTGCCGGCTCCACTCCGGGGCTAACATCATGCCCGATGGGTCTGCCAGCGCCCTGGGCCTCAGGGGTCTATAACAGACCCCACCCCCCTGCCAAGAGAACTTGCTTCCCAACCACCCACCCTGAGCAGCCGGGACAGGAGGCTGCAGCTCATCCAGAACTTGGAAGGAGGCCCCCGAGCCTCCCGCATCACCCCGCATCCCTTCTGCCCACCTCCCGCACAAAACACAATGTTCAGAGCACTCAAAATGACAAGGAGGCCACATAGATGCCCGACAAACGCCTGGACAGACACACACGATGCTGTGAGCCCCAGTGGGGCAGCACAGACGCTCGTGTTCAGGGGGTGGAGGGACACAGACCCAGCACGAAGGTGATGGCCTCGGGGGGCTGGACCCTGTGGTATCACCCAAGGTGGGAGCCCAGCGGGGCCAGGTGGGCAGTGGGTCTCAGAGCTGAGGGCAGACGCCGAGGGCAGGCCTGCCGCAGAGGAGGAGTGGAGAGGCTGGTGAGGAAGGAGGCGCTCTCCTGCGTGGGCCAGCAGGGAGGGGGCAGCGCCTGTCTCCCTGGAGAAGAAAGGCTCACCTGAGAAATTCCGTGTGGCCAGCATGGTGGTGAGGATGGCTCCCTGGGGAGAGACACAGATAAAACCGGGGCTATCCCATCAGTGTTCCCTGCTGGCTTCTGGCCAGGATAAGACCCCTGTCCTCCTGCCCAGATGCTCAGCCTCATTGTCATGAGGCTGACATGACCTCAGCCTTCCAGAGAGGCAAGAGCTCCAGGAAGCCAGCAGCCGCACTGAGACAGATCACCTATTTCCAGAACTACACACACCCTGGGCCTAAACCTGTTGACCAACTACAGCTTCTAGCTGCTTCAAGACCCCTCAAGCCTCAGGGGTCACCAGAACAGCTGGTCACCACGGCAGCTCCTCTGGGGTCCAGCTCCCTGACAGCCCCTTCTTTTCCTGACAGGCTCAGACAGGGCAACAGTCCTGGGGCTTCCGGGGAGAACTGCTCAGAGACCAGCAGAGGGCAGTCAGGCAACAAGTCCCCATCCCGGAACCCACAAGTAGAGGGACTGCCAGTGTGCGGTCACCGGAGCCAGCCCTGACCAAAGCAGGCAGGTTGGATACCCTACTGGGACCCACCTCCCTCCCAGAACTCCCCCAGCCCACCCAAGACCAGTGTGTGTGGCTCTGCTCTCCTTACCAAACCTGTCTGAGCCGGAAGCTTCGGACTTGCTTGTACTAAACAGTGTGACTGCCAGAGGGTGAGTGCTGCCTGCAGAGCCCGGGTGAGGAGCCCACAGCGAGCGCTTCAGGACAGCTCCTCCAAGGGCTGCTAGGAGGTGGCACAGACAACTAGGAGGAGCCACACCTGGCCCAGGGCCCCTCTGGACTCATTCCCAAGCTGGCCTGAGTTCACCTGATGCATCCAGTCTGGGACTTGCTAACAGTCAGTCTTGGGGGCAGCAGTAACCCCTAGGTCTGCCCAGACCCCCCAAGGCCCCCCTGCTCCAGCCCAGAGGGACACAGAGAAGCATGGCCGTGCCTGGGACTAGGGGCCAGGGCCTCACCTTGAGCTTTCTCCTGGCATTGAACTTTTTCAGACACTCCACAGTCTCCTGACTGTGCATCATGGATGCTACCGTGGAGCGTTGCTGTGGGGAAATGGGTGGTCATATGGCAGCCGAGCCCGAGGCACAGGGGAGAGGCCAGGGTGGCAAGGCTTGTGGCACCCTGGGGTCCCCACTTGCCAAGAGCCACCGGCCACCATTGCGGCAAGGGTTGTCTGTCCCCACCCGCCTGGGACTTCAAGACTCGTCTCTCCCTTGCCTCGTCCACTCTGCCCCTCACAGACAGGACTGCAGTTGGGAGGAAGGGATCACCTCTACCCTCTAATGCCTTCCAAGCCCCAGGCCTCACAAACGTGCTGGTATGTCCCAAGCCAGAGGCCACAAGGAGCACCCAGGGGACCCAAGGGAGCTCTTGGATGTCAGGAACAGGACCCTCTTGGGGTCCTTGCCAGGGGAGTGGTCTGAGGCCATCTCCACCAGGAGCCCCCTCCCCACCATGGGCACCAAGGGCGACTCACGCAGACCCACGGGTGCTTCAGGGCCTCATGGGCTGTGATGCGCTTGGCAGGGTTGATGGTCAGCATCTGGTTGATGAGGTTTTTGGCTTCAGGAGTGACGGTGTCCCACTCAGGGGACGGGAACTGCAGAAGGAAACAGCGCCCCGGCCGGGCCTGAAGCTCCCTCTCAGGCAGGGGCAAGAATTCTCCAAGGGGCTTCATCTCCAGCCACGAATCTGGGAGAGCAGGACCCAGGACCTGGCCACAGGTGGCTTCACCCCACTCCTAGCCTCTTCCCACGCTGCCCTCACCCGGCCACACCTGGAGGAAGGGAGCTCATCAGAGAGGGGCTGGTGCACTCACGTCATAGGCACCAGCCTTGATCTGCTGGTACAGCTTGTGCTGGTCCTCGTCCCAGAAGGGTGGGTAGCCCACGAGCAGGATGTACAGGATCACCCCTGCGGATGGGGCCTGTGAGCACCGCAGCCACTTGCAGGGTGCCACCGTCCATGAAGCCCATGCCCTGCACCCTCACTGCCTAGCTCCTGTGGCCCTGGGAGGGCATTGGGGTCCTCAGCATTCCTTTGCCCCCACCTGTGCAGCAGACACTGGGGTAGAAGGGCACAGCCGGCCCCCTGACCTCTGCCCCACACCCACACTATCACAGGGATGAGGGTGATGTCAAGCCCCTCTGCTGCTCCCCACCTCTGTGGGAGGAGACCCCTACCCAAGGAGGTGGCCCTGCCCATGGCCCAACAGCCCCTGACCTCTCTTCTCCACTCCCATCCACCCACCACACTTCTGGACCAGACCTCTGCTGAGCGCAGGCGAGCACTGGGGTGCGCCAGGTTCATGTGAGCAATTCTAATCTGGGTGGAAAGGGGGCTCTTGGCTGTGTGGGCAGACCCCTGCCAGGGCAGCTCAAGGGCAGGTCTGACACAGATAAACCCAGATGAGAGCAAGACGTGCTGGCCACTGCACACTCCAGGATGTAGGTGGGAAGTCCTGAAACACCCGAGGCCCTGCCCCGCACCAACTCAGGCCAGGCCTCACCACATGCCCAGATGTCCACAGGCTTGCCATACGCCTCTTTGCGAAGGACCTCAGGGGACAGGTAGCCTGGTGTGCCAGCGAAACCTAGAGAGAGGGGAAGAGGCCACAAGGGGCTGTCAGCATCACCTCCTGCCCTGCCAACTGCCAGCCAACACACCCTGCCCCTGGCACTCACCAAACCATGCCTGCTGGTCCCCCTGCACCTCGATAGCTAGGCCGAAGTCTGCCAGCTTCACTGCAGCCCCTTTGCACTTGCTGGCCAGAAGCAGGTTCTCCGGCTGCAGGGAGGTGACCGGCACAAGGGTGCATGTTGTTTAAACCCAGAGGTGTTATGTGGGGTTGGGTGGGGGGTTACAAAACAGAGAAAACAGTGGTTTGCAAGAGACAGGTGCACAGGTCTGAGCCCTGCCCCATGGTGTCTGCAGGGCATGGCTGAGCCTTCACCCCAGAGTCCCAGACGCTGAGCCTGCAACCCCACAGCCCCTCTGCCCCTGGGGACAGAGACACAGCAGCTCTGGCCTTTCAGAGGAAACTTGGCTCTCAGCCTGA
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Task1_train_11166
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A genomic change on Chromosome 7 affects CAMK2B (calcium/calmodulin dependent protein kinase II beta). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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AACTTGGAAGGAGGCCCCCGAGCCTCCCGCATCACCCCGCATCCCTTCTGCCCACCTCCCGCACAAAACACAATGTTCAGAGCACTCAAAATGACAAGGAGGCCACATAGATGCCCGACAAACGCCTGGACAGACACACACGATGCTGTGAGCCCCAGTGGGGCAGCACAGACGCTCGTGTTCAGGGGGTGGAGGGACACAGACCCAGCACGAAGGTGATGGCCTCGGGGGGCTGGACCCTGTGGTATCACCCAAGGTGGGAGCCCAGCGGGGCCAGGTGGGCAGTGGGTCTCAGAGCTGAGGGCAGACGCCGAGGGCAGGCCTGCCGCAGAGGAGGAGTGGAGAGGCTGGTGAGGAAGGAGGCGCTCTCCTGCGTGGGCCAGCAGGGAGGGGGCAGCGCCTGTCTCCCTGGAGAAGAAAGGCTCACCTGAGAAATTCCGTGTGGCCAGCATGGTGGTGAGGATGGCTCCCTGGGGAGAGACACAGATAAAACCGGGGCTATCCCATCAGTGTTCCCTGCTGGCTTCTGGCCAGGATAAGACCCCTGTCCTCCTGCCCAGATGCTCAGCCTCATTGTCATGAGGCTGACATGACCTCAGCCTTCCAGAGAGGCAAGAGCTCCAGGAAGCCAGCAGCCGCACTGAGACAGATCACCTATTTCCAGAACTACACACACCCTGGGCCTAAACCTGTTGACCAACTACAGCTTCTAGCTGCTTCAAGACCCCTCAAGCCTCAGGGGTCACCAGAACAGCTGGTCACCACGGCAGCTCCTCTGGGGTCCAGCTCCCTGACAGCCCCTTCTTTTCCTGACAGGCTCAGACAGGGCAACAGTCCTGGGGCTTCCGGGGAGAACTGCTCAGAGACCAGCAGAGGGCAGTCAGGCAACAAGTCCCCATCCCGGAACCCACAAGTAGAGGGACTGCCAGTGTGCGGTCACCGGAGCCAGCCCTGACCAAAGCAGGCAGGTTGGATACCCTACTGGGACCCACCTCCCTCCCAGAACTCCCCCAGCCCACCCAAGACCAGTGTGTGTGGCTCTGCTCTCCTTACCAAACCTGTCTGAGCCGGAAGCTTCGGACTTGCTTGTACTAAACAGTGTGACTGCCAGAGGGTGAGTGCTGCCTGCAGAGCCCGGGTGAGGAGCCCACAGCGAGCGCTTCAGGACAGCTCCTCCAAGGGCTGCTAGGAGGTGGCACAGACAACTAGGAGGAGCCACACCTGGCCCAGGGCCCCTCTGGACTCATTCCCAAGCTGGCCTGAGTTCACCTGATGCATCCAGTCTGGGACTTGCTAACAGTCAGTCTTGGGGGCAGCAGTAACCCCTAGGTCTGCCCAGACCCCCCAAGGCCCCCCTGCTCCAGCCCAGAGGGACACAGAGAAGCATGGCCGTGCCTGGGACTAGGGGCCAGGGCCTCACCTTGAGCTTTCTCCTGGCATTGAACTTTTTCAGACACTCCACAGTCTCCTGTCTGTGCATCATGGATGCTACCGTGGAGCGTTGCTGTGGGGAAATGGGTGGTCATATGGCAGCCGAGCCCGAGGCACAGGGGAGAGGCCAGGGTGGCAAGGCTTGTGGCACCCTGGGGTCCCCACTTGCCAAGAGCCACCGGCCACCATTGCGGCAAGGGTTGTCTGTCCCCACCCGCCTGGGACTTCAAGACTCGTCTCTCCCTTGCCTCGTCCACTCTGCCCCTCACAGACAGGACTGCAGTTGGGAGGAAGGGATCACCTCTACCCTCTAATGCCTTCCAAGCCCCAGGCCTCACAAACGTGCTGGTATGTCCCAAGCCAGAGGCCACAAGGAGCACCCAGGGGACCCAAGGGAGCTCTTGGATGTCAGGAACAGGACCCTCTTGGGGTCCTTGCCAGGGGAGTGGTCTGAGGCCATCTCCACCAGGAGCCCCCTCCCCACCATGGGCACCAAGGGCGACTCACGCAGACCCACGGGTGCTTCAGGGCCTCATGGGCTGTGATGCGCTTGGCAGGGTTGATGGTCAGCATCTGGTTGATGAGGTTTTTGGCTTCAGGAGTGACGGTGTCCCACTCAGGGGACGGGAACTGCAGAAGGAAACAGCGCCCCGGCCGGGCCTGAAGCTCCCTCTCAGGCAGGGGCAAGAATTCTCCAAGGGGCTTCATCTCCAGCCACGAATCTGGGAGAGCAGGACCCAGGACCTGGCCACAGGTGGCTTCACCCCACTCCTAGCCTCTTCCCACGCTGCCCTCACCCGGCCACACCTGGAGGAAGGGAGCTCATCAGAGAGGGGCTGGTGCACTCACGTCATAGGCACCAGCCTTGATCTGCTGGTACAGCTTGTGCTGGTCCTCGTCCCAGAAGGGTGGGTAGCCCACGAGCAGGATGTACAGGATCACCCCTGCGGATGGGGCCTGTGAGCACCGCAGCCACTTGCAGGGTGCCACCGTCCATGAAGCCCATGCCCTGCACCCTCACTGCCTAGCTCCTGTGGCCCTGGGAGGGCATTGGGGTCCTCAGCATTCCTTTGCCCCCACCTGTGCAGCAGACACTGGGGTAGAAGGGCACAGCCGGCCCCCTGACCTCTGCCCCACACCCACACTATCACAGGGATGAGGGTGATGTCAAGCCCCTCTGCTGCTCCCCACCTCTGTGGGAGGAGACCCCTACCCAAGGAGGTGGCCCTGCCCATGGCCCAACAGCCCCTGACCTCTCTTCTCCACTCCCATCCACCCACCACACTTCTGGACCAGACCTCTGCTGAGCGCAGGCGAGCACTGGGGTGCGCCAGGTTCATGTGAGCAATTCTAATCTGGGTGGAAAGGGGGCTCTTGGCTGTGTGGGCAGACCCCTGCCAGGGCAGCTCAAGGGCAGGTCTGACACAGATAAACCCAGATGAGAGCAAGACGTGCTGGCCACTGCACACTCCAGGATGTAGGTGGGAAGTCCTGAAACACCCGAGGCCCTGCCCCGCACCAACTCAGGCCAGGCCTCACCACATGCCCAGATGTCCACAGGCTTGCCATACGCCTCTTTGCGAAGGACCTCAGGGGACAGGTAGCCTGGTGTGCCAGCGAAACCTAGAGAGAGGGGAAGAGGCCACAAGGGGCTGTCAGCATCACCTCCTGCCCTGCCAACTGCCAGCCAACACACCCTGCCCCTGGCACTCACCAAACCATGCCTGCTGGTCCCCCTGCACCTCGATAGCTAGGCCGAAGTCTGCCAGCTTCACTGCAGCCCCTTTGCACTTGCTGGCCAGAAGCAGGTTCTCCGGCTGCAGGGAGGTGACCGGCACAAGGGTGCATGTTGTTTAAACCCAGAGGTGTTATGTGGGGTTGGGTGGGGGGTTACAAAACAGAGAAAACAGTGGTTTGCAAGAGACAGGTGCACAGGTCTGAGCCCTGCCCCATGGTGTCTGCAGGGCATGGCTGAGCCTTCACCCCAGAGTCCCAGACGCTGAGCCTGCAACCCCACAGCCCCTCTGCCCCTGGGGACAGAGACACAGCAGCTCTGGCCTTTCAGAGGAAACTTGGCTCTCAGCCTGAGCTTGGATCCCCATAACCTGGAAGGGCGACCTGGGGGCTAGTTGGACCAAAACCTCAAGCTCATCCTTACAAGCAAACTAAATGTTCCCCACAGCCCTGGGGCAGACTGTGCAGTGGCTGGGGGCTCCCATGGCCCTCGGACTCCCACTGGCTGAGAGGCTGCAATGGCCCTCCCTTCCCTCCCTGTTTCTCACTCCTCAGAGACCTGGGATGTTGGGGGCTGCTTGAGGGGAAGTTCAGGTATTTCCTGCTGAGATGGTGACCCCCAAAGGGCAAGGAGAAACGCCCAGGGCCCTCAGCACTAGGGGCAGCCCAGGACATCCACCCACCAAGTCCCCCTGGCTCTGGTCATCCCCACTACATGGGGCAGGAAGGAGGCCCCTGCAATGACCCCCTGCCCGCTGGGTATCCACAGGTTGGGGGGTTACTCAGGCCCTGACACAGAGAGCAGTGCCCTTGCTCAAGCCAGAAGGACATCTGCTCCCTATCTTGCAGCAGCGGCCAAGGAGGCCTGGGGGCACTTGGCACTGAGGGCCTGAGGGGGTCCCAGGGCCACTGCATCCCATGGGACCTTCCT
|
AACTTGGAAGGAGGCCCCCGAGCCTCCCGCATCACCCCGCATCCCTTCTGCCCACCTCCCGCACAAAACACAATGTTCAGAGCACTCAAAATGACAAGGAGGCCACATAGATGCCCGACAAACGCCTGGACAGACACACACGATGCTGTGAGCCCCAGTGGGGCAGCACAGACGCTCGTGTTCAGGGGGTGGAGGGACACAGACCCAGCACGAAGGTGATGGCCTCGGGGGGCTGGACCCTGTGGTATCACCCAAGGTGGGAGCCCAGCGGGGCCAGGTGGGCAGTGGGTCTCAGAGCTGAGGGCAGACGCCGAGGGCAGGCCTGCCGCAGAGGAGGAGTGGAGAGGCTGGTGAGGAAGGAGGCGCTCTCCTGCGTGGGCCAGCAGGGAGGGGGCAGCGCCTGTCTCCCTGGAGAAGAAAGGCTCACCTGAGAAATTCCGTGTGGCCAGCATGGTGGTGAGGATGGCTCCCTGGGGAGAGACACAGATAAAACCGGGGCTATCCCATCAGTGTTCCCTGCTGGCTTCTGGCCAGGATAAGACCCCTGTCCTCCTGCCCAGATGCTCAGCCTCATTGTCATGAGGCTGACATGACCTCAGCCTTCCAGAGAGGCAAGAGCTCCAGGAAGCCAGCAGCCGCACTGAGACAGATCACCTATTTCCAGAACTACACACACCCTGGGCCTAAACCTGTTGACCAACTACAGCTTCTAGCTGCTTCAAGACCCCTCAAGCCTCAGGGGTCACCAGAACAGCTGGTCACCACGGCAGCTCCTCTGGGGTCCAGCTCCCTGACAGCCCCTTCTTTTCCTGACAGGCTCAGACAGGGCAACAGTCCTGGGGCTTCCGGGGAGAACTGCTCAGAGACCAGCAGAGGGCAGTCAGGCAACAAGTCCCCATCCCGGAACCCACAAGTAGAGGGACTGCCAGTGTGCGGTCACCGGAGCCAGCCCTGACCAAAGCAGGCAGGTTGGATACCCTACTGGGACCCACCTCCCTCCCAGAACTCCCCCAGCCCACCCAAGACCAGTGTGTGTGGCTCTGCTCTCCTTACCAAACCTGTCTGAGCCGGAAGCTTCGGACTTGCTTGTACTAAACAGTGTGACTGCCAGAGGGTGAGTGCTGCCTGCAGAGCCCGGGTGAGGAGCCCACAGCGAGCGCTTCAGGACAGCTCCTCCAAGGGCTGCTAGGAGGTGGCACAGACAACTAGGAGGAGCCACACCTGGCCCAGGGCCCCTCTGGACTCATTCCCAAGCTGGCCTGAGTTCACCTGATGCATCCAGTCTGGGACTTGCTAACAGTCAGTCTTGGGGGCAGCAGTAACCCCTAGGTCTGCCCAGACCCCCCAAGGCCCCCCTGCTCCAGCCCAGAGGGACACAGAGAAGCATGGCCGTGCCTGGGACTAGGGGCCAGGGCCTCACCTTGAGCTTTCTCCTGGCATTGAACTTTTTCAGACACTCCACAGTCTCCTGTCTGTGCATCATGGATGCTACCGTGGAGCGTTGCTGTGGGGAAATGGGTGGTCATATGGCAGCCGAGCCCGAGGCACAGGGGAGAGGCCAGGGTGGCAAGGCTTGTGGCACCCTGGGGTCCCCACTTGCCAAGAGCCACCGGCCACCATTGCGGCAAGGGTTGTCTGTCCCCACCCGCCTGGGACTTCAAGACTCGTCTCTCCCTTGCCTCGTCCACTCTGCCCCTCACAGACAGGACTGCAGTTGGGAGGAAGGGATCACCTCTACCCTCTAATGCCTTCCAAGCCCCAGGCCTCACAAACGTGCTGGTATGTCCCAAGCCAGAGGCCACAAGGAGCACCCAGGGGACCCAAGGGAGCTCTTGGATGTCAGGAACAGGACCCTCTTGGGGTCCTTGCCAGGGGAGTGGTCTGAGGCCATCTCCACCAGGAGCCCCCTCCCCACCATGGGCACCAAGGGCGACTCACGCAGACCCACGGGTGCTTCAGGGCCTCATGGGCTGTGATGCGCTTGGCAGGGTTGATGGTCAGCATCTGGTTGATGAGGTTTTTGGCTTCAGGAGTGACGGTGTCCCACTTAGGGGACGGGAACTGCAGAAGGAAACAGCGCCCCGGCCGGGCCTGAAGCTCCCTCTCAGGCAGGGGCAAGAATTCTCCAAGGGGCTTCATCTCCAGCCACGAATCTGGGAGAGCAGGACCCAGGACCTGGCCACAGGTGGCTTCACCCCACTCCTAGCCTCTTCCCACGCTGCCCTCACCCGGCCACACCTGGAGGAAGGGAGCTCATCAGAGAGGGGCTGGTGCACTCACGTCATAGGCACCAGCCTTGATCTGCTGGTACAGCTTGTGCTGGTCCTCGTCCCAGAAGGGTGGGTAGCCCACGAGCAGGATGTACAGGATCACCCCTGCGGATGGGGCCTGTGAGCACCGCAGCCACTTGCAGGGTGCCACCGTCCATGAAGCCCATGCCCTGCACCCTCACTGCCTAGCTCCTGTGGCCCTGGGAGGGCATTGGGGTCCTCAGCATTCCTTTGCCCCCACCTGTGCAGCAGACACTGGGGTAGAAGGGCACAGCCGGCCCCCTGACCTCTGCCCCACACCCACACTATCACAGGGATGAGGGTGATGTCAAGCCCCTCTGCTGCTCCCCACCTCTGTGGGAGGAGACCCCTACCCAAGGAGGTGGCCCTGCCCATGGCCCAACAGCCCCTGACCTCTCTTCTCCACTCCCATCCACCCACCACACTTCTGGACCAGACCTCTGCTGAGCGCAGGCGAGCACTGGGGTGCGCCAGGTTCATGTGAGCAATTCTAATCTGGGTGGAAAGGGGGCTCTTGGCTGTGTGGGCAGACCCCTGCCAGGGCAGCTCAAGGGCAGGTCTGACACAGATAAACCCAGATGAGAGCAAGACGTGCTGGCCACTGCACACTCCAGGATGTAGGTGGGAAGTCCTGAAACACCCGAGGCCCTGCCCCGCACCAACTCAGGCCAGGCCTCACCACATGCCCAGATGTCCACAGGCTTGCCATACGCCTCTTTGCGAAGGACCTCAGGGGACAGGTAGCCTGGTGTGCCAGCGAAACCTAGAGAGAGGGGAAGAGGCCACAAGGGGCTGTCAGCATCACCTCCTGCCCTGCCAACTGCCAGCCAACACACCCTGCCCCTGGCACTCACCAAACCATGCCTGCTGGTCCCCCTGCACCTCGATAGCTAGGCCGAAGTCTGCCAGCTTCACTGCAGCCCCTTTGCACTTGCTGGCCAGAAGCAGGTTCTCCGGCTGCAGGGAGGTGACCGGCACAAGGGTGCATGTTGTTTAAACCCAGAGGTGTTATGTGGGGTTGGGTGGGGGGTTACAAAACAGAGAAAACAGTGGTTTGCAAGAGACAGGTGCACAGGTCTGAGCCCTGCCCCATGGTGTCTGCAGGGCATGGCTGAGCCTTCACCCCAGAGTCCCAGACGCTGAGCCTGCAACCCCACAGCCCCTCTGCCCCTGGGGACAGAGACACAGCAGCTCTGGCCTTTCAGAGGAAACTTGGCTCTCAGCCTGAGCTTGGATCCCCATAACCTGGAAGGGCGACCTGGGGGCTAGTTGGACCAAAACCTCAAGCTCATCCTTACAAGCAAACTAAATGTTCCCCACAGCCCTGGGGCAGACTGTGCAGTGGCTGGGGGCTCCCATGGCCCTCGGACTCCCACTGGCTGAGAGGCTGCAATGGCCCTCCCTTCCCTCCCTGTTTCTCACTCCTCAGAGACCTGGGATGTTGGGGGCTGCTTGAGGGGAAGTTCAGGTATTTCCTGCTGAGATGGTGACCCCCAAAGGGCAAGGAGAAACGCCCAGGGCCCTCAGCACTAGGGGCAGCCCAGGACATCCACCCACCAAGTCCCCCTGGCTCTGGTCATCCCCACTACATGGGGCAGGAAGGAGGCCCCTGCAATGACCCCCTGCCCGCTGGGTATCCACAGGTTGGGGGGTTACTCAGGCCCTGACACAGAGAGCAGTGCCCTTGCTCAAGCCAGAAGGACATCTGCTCCCTATCTTGCAGCAGCGGCCAAGGAGGCCTGGGGGCACTTGGCACTGAGGGCCTGAGGGGGTCCCAGGGCCACTGCATCCCATGGGACCTTCCT
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Task1_train_11167
|
An alteration has been detected in CAMK2B (calcium/calmodulin dependent protein kinase II beta) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; not provided
|
CTCAGAGCTGAGGGCAGACGCCGAGGGCAGGCCTGCCGCAGAGGAGGAGTGGAGAGGCTGGTGAGGAAGGAGGCGCTCTCCTGCGTGGGCCAGCAGGGAGGGGGCAGCGCCTGTCTCCCTGGAGAAGAAAGGCTCACCTGAGAAATTCCGTGTGGCCAGCATGGTGGTGAGGATGGCTCCCTGGGGAGAGACACAGATAAAACCGGGGCTATCCCATCAGTGTTCCCTGCTGGCTTCTGGCCAGGATAAGACCCCTGTCCTCCTGCCCAGATGCTCAGCCTCATTGTCATGAGGCTGACATGACCTCAGCCTTCCAGAGAGGCAAGAGCTCCAGGAAGCCAGCAGCCGCACTGAGACAGATCACCTATTTCCAGAACTACACACACCCTGGGCCTAAACCTGTTGACCAACTACAGCTTCTAGCTGCTTCAAGACCCCTCAAGCCTCAGGGGTCACCAGAACAGCTGGTCACCACGGCAGCTCCTCTGGGGTCCAGCTCCCTGACAGCCCCTTCTTTTCCTGACAGGCTCAGACAGGGCAACAGTCCTGGGGCTTCCGGGGAGAACTGCTCAGAGACCAGCAGAGGGCAGTCAGGCAACAAGTCCCCATCCCGGAACCCACAAGTAGAGGGACTGCCAGTGTGCGGTCACCGGAGCCAGCCCTGACCAAAGCAGGCAGGTTGGATACCCTACTGGGACCCACCTCCCTCCCAGAACTCCCCCAGCCCACCCAAGACCAGTGTGTGTGGCTCTGCTCTCCTTACCAAACCTGTCTGAGCCGGAAGCTTCGGACTTGCTTGTACTAAACAGTGTGACTGCCAGAGGGTGAGTGCTGCCTGCAGAGCCCGGGTGAGGAGCCCACAGCGAGCGCTTCAGGACAGCTCCTCCAAGGGCTGCTAGGAGGTGGCACAGACAACTAGGAGGAGCCACACCTGGCCCAGGGCCCCTCTGGACTCATTCCCAAGCTGGCCTGAGTTCACCTGATGCATCCAGTCTGGGACTTGCTAACAGTCAGTCTTGGGGGCAGCAGTAACCCCTAGGTCTGCCCAGACCCCCCAAGGCCCCCCTGCTCCAGCCCAGAGGGACACAGAGAAGCATGGCCGTGCCTGGGACTAGGGGCCAGGGCCTCACCTTGAGCTTTCTCCTGGCATTGAACTTTTTCAGACACTCCACAGTCTCCTGTCTGTGCATCATGGATGCTACCGTGGAGCGTTGCTGTGGGGAAATGGGTGGTCATATGGCAGCCGAGCCCGAGGCACAGGGGAGAGGCCAGGGTGGCAAGGCTTGTGGCACCCTGGGGTCCCCACTTGCCAAGAGCCACCGGCCACCATTGCGGCAAGGGTTGTCTGTCCCCACCCGCCTGGGACTTCAAGACTCGTCTCTCCCTTGCCTCGTCCACTCTGCCCCTCACAGACAGGACTGCAGTTGGGAGGAAGGGATCACCTCTACCCTCTAATGCCTTCCAAGCCCCAGGCCTCACAAACGTGCTGGTATGTCCCAAGCCAGAGGCCACAAGGAGCACCCAGGGGACCCAAGGGAGCTCTTGGATGTCAGGAACAGGACCCTCTTGGGGTCCTTGCCAGGGGAGTGGTCTGAGGCCATCTCCACCAGGAGCCCCCTCCCCACCATGGGCACCAAGGGCGACTCACGCAGACCCACGGGTGCTTCAGGGCCTCATGGGCTGTGATGCGCTTGGCAGGGTTGATGGTCAGCATCTGGTTGATGAGGTTTTTGGCTTCAGGAGTGACGGTGTCCCACTCAGGGGACGGGAACTGCAGAAGGAAACAGCGCCCCGGCCGGGCCTGAAGCTCCCTCTCAGGCAGGGGCAAGAATTCTCCAAGGGGCTTCATCTCCAGCCACGAATCTGGGAGAGCAGGACCCAGGACCTGGCCACAGGTGGCTTCACCCCACTCCTAGCCTCTTCCCACGCTGCCCTCACCCGGCCACACCTGGAGGAAGGGAGCTCATCAGAGAGGGGCTGGTGCACTCACGTCATAGGCACCAGCCTTGATCTGCTGGTACAGCTTGTGCTGGTCCTCGTCCCAGAAGGGTGGGTAGCCCACGAGCAGGATGTACAGGATCACCCCTGCGGATGGGGCCTGTGAGCACCGCAGCCACTTGCAGGGTGCCACCGTCCATGAAGCCCATGCCCTGCACCCTCACTGCCTAGCTCCTGTGGCCCTGGGAGGGCATTGGGGTCCTCAGCATTCCTTTGCCCCCACCTGTGCAGCAGACACTGGGGTAGAAGGGCACAGCCGGCCCCCTGACCTCTGCCCCACACCCACACTATCACAGGGATGAGGGTGATGTCAAGCCCCTCTGCTGCTCCCCACCTCTGTGGGAGGAGACCCCTACCCAAGGAGGTGGCCCTGCCCATGGCCCAACAGCCCCTGACCTCTCTTCTCCACTCCCATCCACCCACCACACTTCTGGACCAGACCTCTGCTGAGCGCAGGCGAGCACTGGGGTGCGCCAGGTTCATGTGAGCAATTCTAATCTGGGTGGAAAGGGGGCTCTTGGCTGTGTGGGCAGACCCCTGCCAGGGCAGCTCAAGGGCAGGTCTGACACAGATAAACCCAGATGAGAGCAAGACGTGCTGGCCACTGCACACTCCAGGATGTAGGTGGGAAGTCCTGAAACACCCGAGGCCCTGCCCCGCACCAACTCAGGCCAGGCCTCACCACATGCCCAGATGTCCACAGGCTTGCCATACGCCTCTTTGCGAAGGACCTCAGGGGACAGGTAGCCTGGTGTGCCAGCGAAACCTAGAGAGAGGGGAAGAGGCCACAAGGGGCTGTCAGCATCACCTCCTGCCCTGCCAACTGCCAGCCAACACACCCTGCCCCTGGCACTCACCAAACCATGCCTGCTGGTCCCCCTGCACCTCGATAGCTAGGCCGAAGTCTGCCAGCTTCACTGCAGCCCCTTTGCACTTGCTGGCCAGAAGCAGGTTCTCCGGCTGCAGGGAGGTGACCGGCACAAGGGTGCATGTTGTTTAAACCCAGAGGTGTTATGTGGGGTTGGGTGGGGGGTTACAAAACAGAGAAAACAGTGGTTTGCAAGAGACAGGTGCACAGGTCTGAGCCCTGCCCCATGGTGTCTGCAGGGCATGGCTGAGCCTTCACCCCAGAGTCCCAGACGCTGAGCCTGCAACCCCACAGCCCCTCTGCCCCTGGGGACAGAGACACAGCAGCTCTGGCCTTTCAGAGGAAACTTGGCTCTCAGCCTGAGCTTGGATCCCCATAACCTGGAAGGGCGACCTGGGGGCTAGTTGGACCAAAACCTCAAGCTCATCCTTACAAGCAAACTAAATGTTCCCCACAGCCCTGGGGCAGACTGTGCAGTGGCTGGGGGCTCCCATGGCCCTCGGACTCCCACTGGCTGAGAGGCTGCAATGGCCCTCCCTTCCCTCCCTGTTTCTCACTCCTCAGAGACCTGGGATGTTGGGGGCTGCTTGAGGGGAAGTTCAGGTATTTCCTGCTGAGATGGTGACCCCCAAAGGGCAAGGAGAAACGCCCAGGGCCCTCAGCACTAGGGGCAGCCCAGGACATCCACCCACCAAGTCCCCCTGGCTCTGGTCATCCCCACTACATGGGGCAGGAAGGAGGCCCCTGCAATGACCCCCTGCCCGCTGGGTATCCACAGGTTGGGGGGTTACTCAGGCCCTGACACAGAGAGCAGTGCCCTTGCTCAAGCCAGAAGGACATCTGCTCCCTATCTTGCAGCAGCGGCCAAGGAGGCCTGGGGGCACTTGGCACTGAGGGCCTGAGGGGGTCCCAGGGCCACTGCATCCCATGGGACCTTCCTGTCCCAGCTTTCAAACCCCATCGGGCTCTGGCCTACCCATCAGCCTCACCATCTCCCAGCGGTGGGGTCTCTTGGCTGCAGGCCTTCCTTGTCCCTGACCAGCAGGGGGCTCCCTGGGGCCCTCGGGTCCCTTGGCCAGCCTCCCAGGCCACCCCTTTGCCCTGGTGAGTACCCCGCTGTCCTGGCACTGCTTCCATCTGATGCACTACCCTCGGGATCACACTGCCGCTTGATGAGCCGCCCAAAGAGACAAAACAGACCACTCCACCCACTTTTAACACTGGTTGTAA
|
CTCAGAGCTGAGGGCAGACGCCGAGGGCAGGCCTGCCGCAGAGGAGGAGTGGAGAGGCTGGTGAGGAAGGAGGCGCTCTCCTGCGTGGGCCAGCAGGGAGGGGGCAGCGCCTGTCTCCCTGGAGAAGAAAGGCTCACCTGAGAAATTCCGTGTGGCCAGCATGGTGGTGAGGATGGCTCCCTGGGGAGAGACACAGATAAAACCGGGGCTATCCCATCAGTGTTCCCTGCTGGCTTCTGGCCAGGATAAGACCCCTGTCCTCCTGCCCAGATGCTCAGCCTCATTGTCATGAGGCTGACATGACCTCAGCCTTCCAGAGAGGCAAGAGCTCCAGGAAGCCAGCAGCCGCACTGAGACAGATCACCTATTTCCAGAACTACACACACCCTGGGCCTAAACCTGTTGACCAACTACAGCTTCTAGCTGCTTCAAGACCCCTCAAGCCTCAGGGGTCACCAGAACAGCTGGTCACCACGGCAGCTCCTCTGGGGTCCAGCTCCCTGACAGCCCCTTCTTTTCCTGACAGGCTCAGACAGGGCAACAGTCCTGGGGCTTCCGGGGAGAACTGCTCAGAGACCAGCAGAGGGCAGTCAGGCAACAAGTCCCCATCCCGGAACCCACAAGTAGAGGGACTGCCAGTGTGCGGTCACCGGAGCCAGCCCTGACCAAAGCAGGCAGGTTGGATACCCTACTGGGACCCACCTCCCTCCCAGAACTCCCCCAGCCCACCCAAGACCAGTGTGTGTGGCTCTGCTCTCCTTACCAAACCTGTCTGAGCCGGAAGCTTCGGACTTGCTTGTACTAAACAGTGTGACTGCCAGAGGGTGAGTGCTGCCTGCAGAGCCCGGGTGAGGAGCCCACAGCGAGCGCTTCAGGACAGCTCCTCCAAGGGCTGCTAGGAGGTGGCACAGACAACTAGGAGGAGCCACACCTGGCCCAGGGCCCCTCTGGACTCATTCCCAAGCTGGCCTGAGTTCACCTGATGCATCCAGTCTGGGACTTGCTAACAGTCAGTCTTGGGGGCAGCAGTAACCCCTAGGTCTGCCCAGACCCCCCAAGGCCCCCCTGCTCCAGCCCAGAGGGACACAGAGAAGCATGGCCGTGCCTGGGACTAGGGGCCAGGGCCTCACCTTGAGCTTTCTCCTGGCATTGAACTTTTTCAGACACTCCACAGTCTCCTGTCTGTGCATCATGGATGCTACCGTGGAGCGTTGCTGTGGGGAAATGGGTGGTCATATGGCAGCCGAGCCCGAGGCACAGGGGAGAGGCCAGGGTGGCAAGGCTTGTGGCACCCTGGGGTCCCCACTTGCCAAGAGCCACCGGCCACCATTGCGGCAAGGGTTGTCTGTCCCCACCCGCCTGGGACTTCAAGACTCGTCTCTCCCTTGCCTCGTCCACTCTGCCCCTCACAGACAGGACTGCAGTTGGGAGGAAGGGATCACCTCTACCCTCTAATGCCTTCCAAGCCCCAGGCCTCACAAACGTGCTGGTATGTCCCAAGCCAGAGGCCACAAGGAGCACCCAGGGGACCCAAGGGAGCTCTTGGATGTCAGGAACAGGACCCTCTTGGGGTCCTTGCCAGGGGAGTGGTCTGAGGCCATCTCCACCAGGAGCCCCCTCCCCACCATGGGCACCAAGGGCGACTCACGCAGACCCACGGGTGCTTCAGGGCCTCATGGGCTGTGATGCGCTTGGCAGGGTTGATGGTCAGCATCTGGTTGATGAGGTTTTTGGCTTCAGGAGTGACGGTGTCCCACTCAGGGGACGGGAACTGCAGAAGGAAACAGCGCCCCGGCCGGGCCTGAAGCTCCCTCTCAGGCAGGGGCAAGAATTCTCCAAGGGGCTTCATCTCCAGCCACGAATCTGGGAGAGCAGGACCCAGGACCTGGCCACAGGTGGCTTCACCCCACTCCTAGCCTCTTCCCACGCTGCCCTCACCCGGCCACACCTGGAGGAAGGGAGCTCATCAGAGAGGGGCTGGTGCACTCACGTCATAGGCACCAGCCTTGATCTGCTGGTACAGCTTGTGCTGGTCCTCGTCCCAGAAGAGTGGGTAGCCCACGAGCAGGATGTACAGGATCACCCCTGCGGATGGGGCCTGTGAGCACCGCAGCCACTTGCAGGGTGCCACCGTCCATGAAGCCCATGCCCTGCACCCTCACTGCCTAGCTCCTGTGGCCCTGGGAGGGCATTGGGGTCCTCAGCATTCCTTTGCCCCCACCTGTGCAGCAGACACTGGGGTAGAAGGGCACAGCCGGCCCCCTGACCTCTGCCCCACACCCACACTATCACAGGGATGAGGGTGATGTCAAGCCCCTCTGCTGCTCCCCACCTCTGTGGGAGGAGACCCCTACCCAAGGAGGTGGCCCTGCCCATGGCCCAACAGCCCCTGACCTCTCTTCTCCACTCCCATCCACCCACCACACTTCTGGACCAGACCTCTGCTGAGCGCAGGCGAGCACTGGGGTGCGCCAGGTTCATGTGAGCAATTCTAATCTGGGTGGAAAGGGGGCTCTTGGCTGTGTGGGCAGACCCCTGCCAGGGCAGCTCAAGGGCAGGTCTGACACAGATAAACCCAGATGAGAGCAAGACGTGCTGGCCACTGCACACTCCAGGATGTAGGTGGGAAGTCCTGAAACACCCGAGGCCCTGCCCCGCACCAACTCAGGCCAGGCCTCACCACATGCCCAGATGTCCACAGGCTTGCCATACGCCTCTTTGCGAAGGACCTCAGGGGACAGGTAGCCTGGTGTGCCAGCGAAACCTAGAGAGAGGGGAAGAGGCCACAAGGGGCTGTCAGCATCACCTCCTGCCCTGCCAACTGCCAGCCAACACACCCTGCCCCTGGCACTCACCAAACCATGCCTGCTGGTCCCCCTGCACCTCGATAGCTAGGCCGAAGTCTGCCAGCTTCACTGCAGCCCCTTTGCACTTGCTGGCCAGAAGCAGGTTCTCCGGCTGCAGGGAGGTGACCGGCACAAGGGTGCATGTTGTTTAAACCCAGAGGTGTTATGTGGGGTTGGGTGGGGGGTTACAAAACAGAGAAAACAGTGGTTTGCAAGAGACAGGTGCACAGGTCTGAGCCCTGCCCCATGGTGTCTGCAGGGCATGGCTGAGCCTTCACCCCAGAGTCCCAGACGCTGAGCCTGCAACCCCACAGCCCCTCTGCCCCTGGGGACAGAGACACAGCAGCTCTGGCCTTTCAGAGGAAACTTGGCTCTCAGCCTGAGCTTGGATCCCCATAACCTGGAAGGGCGACCTGGGGGCTAGTTGGACCAAAACCTCAAGCTCATCCTTACAAGCAAACTAAATGTTCCCCACAGCCCTGGGGCAGACTGTGCAGTGGCTGGGGGCTCCCATGGCCCTCGGACTCCCACTGGCTGAGAGGCTGCAATGGCCCTCCCTTCCCTCCCTGTTTCTCACTCCTCAGAGACCTGGGATGTTGGGGGCTGCTTGAGGGGAAGTTCAGGTATTTCCTGCTGAGATGGTGACCCCCAAAGGGCAAGGAGAAACGCCCAGGGCCCTCAGCACTAGGGGCAGCCCAGGACATCCACCCACCAAGTCCCCCTGGCTCTGGTCATCCCCACTACATGGGGCAGGAAGGAGGCCCCTGCAATGACCCCCTGCCCGCTGGGTATCCACAGGTTGGGGGGTTACTCAGGCCCTGACACAGAGAGCAGTGCCCTTGCTCAAGCCAGAAGGACATCTGCTCCCTATCTTGCAGCAGCGGCCAAGGAGGCCTGGGGGCACTTGGCACTGAGGGCCTGAGGGGGTCCCAGGGCCACTGCATCCCATGGGACCTTCCTGTCCCAGCTTTCAAACCCCATCGGGCTCTGGCCTACCCATCAGCCTCACCATCTCCCAGCGGTGGGGTCTCTTGGCTGCAGGCCTTCCTTGTCCCTGACCAGCAGGGGGCTCCCTGGGGCCCTCGGGTCCCTTGGCCAGCCTCCCAGGCCACCCCTTTGCCCTGGTGAGTACCCCGCTGTCCTGGCACTGCTTCCATCTGATGCACTACCCTCGGGATCACACTGCCGCTTGATGAGCCGCCCAAAGAGACAAAACAGACCACTCCACCCACTTTTAACACTGGTTGTAA
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Task1_train_11168
|
Given this variant in gene CAMK2B (calcium/calmodulin dependent protein kinase II beta) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Intellectual disability, autosomal dominant 54
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GTGAGGGGCCTGTGATGGGGCACGGGCAGGGGGTGGGGGTGGGGGAGGGTGGGGCTGTGGTCTAAGGCACTCCTGAACCCTAGCTGTGGGATCCGATCTGCTGATGGGAGGCTCTAGGAGGCCACATGCCCCCACCCTTGCCCAGCATCTGTCCACCCCTCAGGGCACTCCACCCATCCCAGGATCCCACCTGCCCCAGCAGGTGTCTGGATGGGCCACCAGGGACCCTCGAGTCCACCTGGCCAGCAGGCAGGCAGCAGCAGGCTCTGTGACATATCTCACCCCAGAAGCTCAGAGCAGGGGGACAGGGCTCCGTTCCACTTTCTACTTGTCTTCTAAGTAGAATATAAAGGAAAACCTCGTCTTCCTCCACTCCAAGGGCACAGGCCTCTCCAGGCTGTTCTGCAAACTACAAATTCCCTCCTCAAGGATCCTTAGAAAAGAAGCCAGTGTCCCGAACCCCACAGAAGTCTGGGGCCAAGAGACTCACCAGCTTTGTCCCTCTCCCTGCCCAGCTCTAGGGGAGGCCCAGTGGCACCAGAGCTGCTCACACTGCCCATCAGGGATGCGGGCCATGTCACGATGGGCAGTTTCCTACTGGTGCAGAGGCAAGTCACATCAAACTACTTCTGCTACTTAAAAAAAAATTCATTTTTCTGGATCAGAAAAGTAATACATACTCATTTTAAAAAGAGTTTTTTTTTTTTGGTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAAACTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGTTGGCCTGGAACTCCCGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGAATTACACGTGTGAGCCACCACGCACGGCCTAAAAAGAGTTTTTAAATAGACAAAGATACAAATTTAAAATCATCCACAATTTCACCACCTAGCGAGGTCCTCCGTTAGCCTTATTTATGTATTTATTTTTTGGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACTTTGAACTCCTGGGCTCAAACCATCCTCCCATCTCAGCTTCCCAAGTGGCTGATGTGCATGTGTGCCACCATGCCTGGCTACTTTTTTTTAAGTTTTTGGTAGAGAGGGGGTCTCATTATATTGCCCAGGCTAGTCTCAAACTCCTAGCCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAATGTTAGGATTACAGGTGTGAGCTACCATGCCTGGCCTCAGTTTTTTTTTTTTTTTTTTTTAAATACACATCTCTGTGGCAGAGCAGGGTGGGCAGAGCCCAGTGGGCAGGGAGTAATGCTGTCAGCTGTCCCTGAGGTGAGATGTACTGTTACGAGAGACATCCTTGTCAGGTGTCAGGGTGGCATCTGGCCTGGGCCACAGCAGGCTACCAGTGGCCTATGCTTCCAGGGACAGGGCCCTGTCACCTCCCCAGCTGACATCTGCCATCCCTCAATCTGGTCTCCAGCAGCCGGGCCACAAACAGTCATCTCTGAGACCATCTGTCCCTCTTCATCCCCCCGGGGAGGGTCAGCCTTGTGGGAAGGGCTGCCTGAGGGTCCACGGGAAGCCCCACCTGGATAGAGCCCAAGTTCCTCCATTCCATCCTCACACTGGGAGGCCCACAGACCCAGGGCCAAGCCCTCTGAACCTGGCCTTGGGCGTGGAGGGGAGGTGGCCTCTTGGCTCTGCGCTGAGGTTACAAGTTTCCTTTGGCTTCATGCCCATCGCTCTGGGGTGTGGGTGAGCAGGGATGCTCAGCACCAGACGTGGGTTAGAAAGAGCAGCAGGAGTGGGTGAAGGAGGGATGGTGAGGGTATAAAGGAAGAGGGACAGGACAGCGTGAGGGCTCTGCACCCACCTGGCATCAGCCTCGCTGTAGTACTCTCTCGCCACAATGTCTTCAAAGAGCTCCCCACCAGTGACCCTATGGGAGAAGCATGAAGGGGTCACAGATTCTGGAGACCCCTGTCACACTGCACTGTCACCTCCATTACTACCACCACCACCATCACCACTATCATCACCATCACTCCCATCATCACTAATGTCACCATCCATCACCAGCATCATCACAATCATCACCACCACCAACTACCACCATCACCAGCACCACCACCTCCACCGTATTACCATCACTTGGGACTGACAGCTTACTAGTGCTTACTTATCTATAATGACATTTAACATTTCAGTCCTCACAACCACTCTGTGACTTTGGCCACGATTATACTCCATTTTTATGGATGAGAAAACAAATTTCAAAGATTTGGTGACTTGCCCAGAGTGGGCAGCACAGGAGCTTTGTCTCAGGGTCTGCATTGTTACACCCAGGCCTTGTGACTCAAATTCCAAGTCTGAGAAGATCTGGTTTCCCCTCCTCAATACTCTCCCACCCCCACTTAGGGCCAGAGTGGTGGCCCTCGCACAGGATCAGAGCCTAAAGACACGGTGCCTAAATCTGGTCTCCTTGGTGGCGCAGGGTCTTGAGGTGTTCGAGGTCCCATCTCTAGGAAGAGAACAGAGATGACAGGCAGAAGGGAGGTCTCTGCCCACTCTCCTGCCCTGTGTCTCCACCCAGTGAGTAGTCATTGGGCCCTATGGTCAGGATAGACCCTGTGAGCAGAAGCCACAATCTGAAGGGCCTCTGGGAGCCGGGTAATGTGGGCATGGAACAAAAAGGTGGAGGGGCTGGATGCACGGCAGGGGAGTAGGACGGAGCCCTCTGCAGGTCTGCCCAAGCCCCTCACACACTTAGCCTGCTTGAGTCTGCTGGTAGACTCCCCTAGAAGCTGTCACCCCTGAGAAGGTTAGGGTCACTGCTCCCACACCACTTCCTGTGACCCTATGTGTGGGGCAGGCCTGTGGGGTCCAAGCCCCTCCTCTGCCTCCGCACCCTCTTCCCCATCCCCCCGCCTGCTCCACTGCACTGCCCAGGTGCTGTGGCTTCTCTATCTGCCTGGCAGTTTTCCCCATTGGTTCTGGAATGTAGGGCTTAGGTCTTCCTCATTTTTGGGCCCAGCACTTGGGGCTGGGCTGGTCCATGGCAGGGAAGACCCAGGGAGTGGATCTGTTGAACATGTGACCTTGGCACATGTGGGTGCTCTCTCAGCACTGGAGAAAAAGAAAAGTGAGCATGTGTTGAATGTCGGCTCACCCCTGCTCCAGCTAAACGCATGCCCTGATGATCCCATTGAATCCCCTCAAAATCCTTCGAGCAATGTGAGGGTGAAATGCACTGGGAAGACACCCAAGTCCCTGGCACCTAGCAGGGCATTAAAGGACTGGGTGTTCCCTTTCCTTTCCCCATTTTTCTGTCCAGGCTGGGGCTGGGGGCAGGGGCTCTGCCTCTGTTGCCTGACTGGTTCTGCTGTTCTGTGTCCCCGACCAGCACCTGGCATGTGACCTGGAGCTCTGCTCACCCTCGCTCACTCCTCTGCCTGCCTCTCCTCTCACTCCTCATGGGCCAGCACATTTCTACAGCCAATCAACCACCACACCGACCACAAGGAAACAAAACAGTGTTGACGGGGCCCTTCCCAGGGTCATCTGGCCGGGCTCCTGAGCTTGGCCTGTCCGTGTGAGGGTGTGTGTGTGCACGTGTTCACATGTGTGGATGCCTGTGTGTGCCCTTGTGTACATGTATACTGGCTTGTGCATGTGAGCACATGTGCATGTGTGTCTGTGTGTCTGTACCTATGTGTGCCCATGCGTGCACTCATGTTCATGTATATTGTTTTGCATGTGTGCCTGTGTGCATGTGTGTACAACTGTGTGCCTGTGTGTGCCCTTGTGCACTTGTAGAGCAGTTTGTTCATGCGCACACATGTGTGCATGTTTGTACATATGTGTGCTTGTGTATACATGTGCATTGGGCAGGAGGATCAAAACCCACATCTAGCCCAGGCAAGGGCCTGGCATG
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GTGAGGGGCCTGTGATGGGGCACGGGCAGGGGGTGGGGGTGGGGGAGGGTGGGGCTGTGGTCTAAGGCACTCCTGAACCCTAGCTGTGGGATCCGATCTGCTGATGGGAGGCTCTAGGAGGCCACATGCCCCCACCCTTGCCCAGCATCTGTCCACCCCTCAGGGCACTCCACCCATCCCAGGATCCCACCTGCCCCAGCAGGTGTCTGGATGGGCCACCAGGGACCCTCGAGTCCACCTGGCCAGCAGGCAGGCAGCAGCAGGCTCTGTGACATATCTCACCCCAGAAGCTCAGAGCAGGGGGACAGGGCTCCGTTCCACTTTCTACTTGTCTTCTAAGTAGAATATAAAGGAAAACCTCGTCTTCCTCCACTCCAAGGGCACAGGCCTCTCCAGGCTGTTCTGCAAACTACAAATTCCCTCCTCAAGGATCCTTAGAAAAGAAGCCAGTGTCCCGAACCCCACAGAAGTCTGGGGCCAAGAGACTCACCAGCTTTGTCCCTCTCCCTGCCCAGCTCTAGGGGAGGCCCAGTGGCACCAGAGCTGCTCACACTGCCCATCAGGGATGCGGGCCATGTCACGATGGGCAGTTTCCTACTGGTGCAGAGGCAAGTCACATCAAACTACTTCTGCTACTTAAAAAAAAATTCATTTTTCTGGATCAGAAAAGTAATACATACTCATTTTAAAAAGAGTTTTTTTTTTTTGGTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCACCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCAAACTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGTTGGCCTGGAACTCCCGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGAATTACACGTGTGAGCCACCACGCACGGCCTAAAAAGAGTTTTTAAATAGACAAAGATACAAATTTAAAATCATCCACAATTTCACCACCTAGCGAGGTCCTCCGTTAGCCTTATTTATGTATTTATTTTTTGGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACTTTGAACTCCTGGGCTCAAACCATCCTCCCATCTCAGCTTCCCAAGTGGCTGATGTGCATGTGTGCCACCATGCCTGGCTACTTTTTTTTAAGTTTTTGGTAGAGAGGGGGTCTCATTATATTGCCCAGGCTAGTCTCAAACTCCTAGCCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAATGTTAGGATTACAGGTGTGAGCTACCATGCCTGGCCTCAGTTTTTTTTTTTTTTTTTTTTAAATACACATCTCTGTGGCAGAGCAGGGTGGGCAGAGCCCAGTGGGCAGGGAGTAATGCTGTCAGCTGTCCCTGAGGTGAGATGTACTGTTACGAGAGACATCCTTGTCAGGTGTCAGGGTGGCATCTGGCCTGGGCCACAGCAGGCTACCAGTGGCCTATGCTTCCAGGGACAGGGCCCTGTCACCTCCCCAGCTGACATCTGCCATCCCTCAATCTGGTCTCCAGCAGCCGGGCCACAAACAGTCATCTCTGAGACCATCTGTCCCTCTTCATCCCCCCGGGGAGGGTCAGCCTTGTGGGAAGGGCTGCCTGAGGGTCCACGGGAAGCCCCACCTGGATAGAGCCCAAGTTCCTCCATTCCATCCTCACACTGGGAGGCCCACAGACCCAGGGCCAAGCCCTCTGAACCTGGCCTTGGGCGTGGAGGGGAGGTGGCCTCTTGGCTCTGCGCTGAGGTTACAAGTTTCCTTTGGCTTCATGCCCATCGCTCTGGGGTGTGGGTGAGCAGGGATGCTCAGCACCAGACGTGGGTTAGAAAGAGCAGCAGGAGTGGGTGAAGGAGGGATGGTGAGGGTATAAAGGAAGAGGGACAGGACAGCGTGAGGGCTCTGCACCCACCTGGCATCAGCCTTGCTGTAGTACTCTCTCGCCACAATGTCTTCAAAGAGCTCCCCACCAGTGACCCTATGGGAGAAGCATGAAGGGGTCACAGATTCTGGAGACCCCTGTCACACTGCACTGTCACCTCCATTACTACCACCACCACCATCACCACTATCATCACCATCACTCCCATCATCACTAATGTCACCATCCATCACCAGCATCATCACAATCATCACCACCACCAACTACCACCATCACCAGCACCACCACCTCCACCGTATTACCATCACTTGGGACTGACAGCTTACTAGTGCTTACTTATCTATAATGACATTTAACATTTCAGTCCTCACAACCACTCTGTGACTTTGGCCACGATTATACTCCATTTTTATGGATGAGAAAACAAATTTCAAAGATTTGGTGACTTGCCCAGAGTGGGCAGCACAGGAGCTTTGTCTCAGGGTCTGCATTGTTACACCCAGGCCTTGTGACTCAAATTCCAAGTCTGAGAAGATCTGGTTTCCCCTCCTCAATACTCTCCCACCCCCACTTAGGGCCAGAGTGGTGGCCCTCGCACAGGATCAGAGCCTAAAGACACGGTGCCTAAATCTGGTCTCCTTGGTGGCGCAGGGTCTTGAGGTGTTCGAGGTCCCATCTCTAGGAAGAGAACAGAGATGACAGGCAGAAGGGAGGTCTCTGCCCACTCTCCTGCCCTGTGTCTCCACCCAGTGAGTAGTCATTGGGCCCTATGGTCAGGATAGACCCTGTGAGCAGAAGCCACAATCTGAAGGGCCTCTGGGAGCCGGGTAATGTGGGCATGGAACAAAAAGGTGGAGGGGCTGGATGCACGGCAGGGGAGTAGGACGGAGCCCTCTGCAGGTCTGCCCAAGCCCCTCACACACTTAGCCTGCTTGAGTCTGCTGGTAGACTCCCCTAGAAGCTGTCACCCCTGAGAAGGTTAGGGTCACTGCTCCCACACCACTTCCTGTGACCCTATGTGTGGGGCAGGCCTGTGGGGTCCAAGCCCCTCCTCTGCCTCCGCACCCTCTTCCCCATCCCCCCGCCTGCTCCACTGCACTGCCCAGGTGCTGTGGCTTCTCTATCTGCCTGGCAGTTTTCCCCATTGGTTCTGGAATGTAGGGCTTAGGTCTTCCTCATTTTTGGGCCCAGCACTTGGGGCTGGGCTGGTCCATGGCAGGGAAGACCCAGGGAGTGGATCTGTTGAACATGTGACCTTGGCACATGTGGGTGCTCTCTCAGCACTGGAGAAAAAGAAAAGTGAGCATGTGTTGAATGTCGGCTCACCCCTGCTCCAGCTAAACGCATGCCCTGATGATCCCATTGAATCCCCTCAAAATCCTTCGAGCAATGTGAGGGTGAAATGCACTGGGAAGACACCCAAGTCCCTGGCACCTAGCAGGGCATTAAAGGACTGGGTGTTCCCTTTCCTTTCCCCATTTTTCTGTCCAGGCTGGGGCTGGGGGCAGGGGCTCTGCCTCTGTTGCCTGACTGGTTCTGCTGTTCTGTGTCCCCGACCAGCACCTGGCATGTGACCTGGAGCTCTGCTCACCCTCGCTCACTCCTCTGCCTGCCTCTCCTCTCACTCCTCATGGGCCAGCACATTTCTACAGCCAATCAACCACCACACCGACCACAAGGAAACAAAACAGTGTTGACGGGGCCCTTCCCAGGGTCATCTGGCCGGGCTCCTGAGCTTGGCCTGTCCGTGTGAGGGTGTGTGTGTGCACGTGTTCACATGTGTGGATGCCTGTGTGTGCCCTTGTGTACATGTATACTGGCTTGTGCATGTGAGCACATGTGCATGTGTGTCTGTGTGTCTGTACCTATGTGTGCCCATGCGTGCACTCATGTTCATGTATATTGTTTTGCATGTGTGCCTGTGTGCATGTGTGTACAACTGTGTGCCTGTGTGTGCCCTTGTGCACTTGTAGAGCAGTTTGTTCATGCGCACACATGTGTGCATGTTTGTACATATGTGTGCTTGTGTATACATGTGCATTGGGCAGGAGGATCAAAACCCACATCTAGCCCAGGCAAGGGCCTGGCATG
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Task1_train_11169
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With a mutation on Chromosome 7 in gene OGDH (oxoglutarate dehydrogenase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Oxoglutaricaciduria
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GGAAGAATATGTGTACTCCGCTTTCACAAAGCACTCATATATAGATCTAGTTTCTCAAATAGCTAAAGAACTAAAAGTGTACCAGCAGTTCTGAGGCTCAGCAGTATAGCCCAAGAACTATGAACTCAGGATGATAGAAGTGAAAGACCATCACATGGTGAGGTCAAGGGATATCTGTAGGCACCTACTTCACAGGGTCCATGCTGAAAGACTGCAACCAATACACAGCGCTTATCTGGGGGCATACACTGGACCGATATAGTTTCACAATCAAAATATTTCCCAACAAAATGTGCACTGTTATTCTGGTCCCCAGTCAGCTGCACCTGGCCTGAGTTTTTTAGTCAGGAAAAATTTCTCAAAGATGATTCTGTTTTTCCTCCATAAATACTATAGGGCAATTGCCCAAAAGCCAGGCCATAAATGGCAAGAGCCACGTGCTTCACCTAGGCCCAAGTGGTTGCTGTGCCCTCAGTGTTGACAGACTAACAGGAGGGAATGGGTGTTCAGGCTTAACTAAGCCACTACTACCATCACCACCCTCCAGGTTAAAAAAAAAAAAAAAAAAAAGCCAGATTTGCTTTGTTTTAATAAAACAAACAGGGCTTGGAAAATGTAGAGTTTGCTTTTAAGACTTAAAAAACAAAACAAAACAAACAAAAAAAACCTCTCCGAAAGCATTAGATAAATAAAGGCTGTAGTTCCCAAACCATGCTTGAATCAGAATCACCTTGGGAGATTTGTGGGCCCACCCTGAGACTCACTGATTCAGTACCAGGGTTGGAGCCTAGAAACAAGCCTTTTTATAAATCTCCAAGGAGATCAAAATACACAATTGTGTTTGCAAACTACCACCGTTAATCCCGTGCTGGACACTTATGGCTCCTTTTAGTCTTAATTTGGCCAGGAAACAATAAGAACATTTCATCAGGTCTAGTCAGATGTTGGAGACTTCGCAAAATACCAGTTCACTGTGCATTCCTGGAGCCTGAGAAAATGCTGATGTAAGGTATTCAAGCGCTAGTGATTCTTGAACTGTGCTTTTTGCTGTACTCTAGCTGATATATTATGTCAGGAGAGATGCCAAACTGGATAAAAGAATGTATGGTGTCATTTGACAGTCTTCCTCTTTGATACAGCAAGATGAAACAAGCATATAATGCCACAGAAAGAGCTCTTCCAGCATTATTCTTTCTCAGACTGAGATGCACTTTCAGGTGAGGTGTTGTCTTCCCCCACAGTGCTGCAGCGAATATTAGTGCTTACTCAGTTGGTTCCCGCTGAGTGATTGGAGTCAGGAGATGGGAGGGTTGTACCTGTGACTGCTGAGTATTGCCTGCAGAATGGGCTCAGAACGCATAGTTCAGGAATTTCAGGAGAAGACGATGGTCCTTAATCCAAGGCTGGGGGTTGTTTGCACGCTGCTGTGCTGCCCTGTGGTGCACCCCTGCCTGGAGCTCCAACAGACAAGTTGACTTCTGGTGACTGTTTCTCCTTCACTTCTTAGTCCCCCTCCTCCAGCTTTTTGACATTCACCACATACATATATTATTGTCATATGATCTGTTCTTCTATATCAGTTCTTCATTTTCTACTTTAATTCCTCCTTAACTATTGTACTGATTTTTGATTGACTTACCCAGTGCCTTTTCATGGACCTCTCTTCCCACCCCCAAAATTGGTTATCTTTGGGACCTTGAAATAAATTTGTCTCTAAATTATGAATAATTGGTGTACTTAACTAACTTATGCATAATATGAATTTTATTGTGACTTACCTGTCATACTCTAATAGCCTCAGCTTCTATTTATTGCTAAAGTTTGTGTTTCTGGCTGTAAAATATTACTTATTTCACATATATCAGGGGCTTTTTATATGATTTTTTTCTTCTCTTTTTGCTCACCTGGGGAGTTCCTTCCCCTTTCCATAAACTGTGGTCCCTGCATGGCTGTGCCCCATCCCTCCTCATCTGGCTTGTCCTGCCCACATCGCCCTGCAGGGTTCTATGGCCTGGATGAGTCTGACCTCGACAAGGTCTTCCACTTGCCCACCACCACTTTCATCGGGGGACAGGAATCAGCACTTCCTCTGCGGGAGATCATCCGTCGGCTGGAGGTAAGAGCAGTTTCTGGAAAAATCTAATGGACTTCTTAAGAACTTGTATTGGCAGGATGGCTTTGAGACTAGTTTTATTTTTTTTCTTTGTCCTATCTTTCTATTTTATTTTTTCTCTGAGACAGAGTTACTGTCACCCAGGCTAGAATGCAGTGACACAGTTTGGCTCACTGCAGCCTTGACCTCCCAGTCTCAAACCATCCTCCCACCCCAACCTCTTGTATCTGGGACTACTGGTACACACCACCATGCCCAGCTAATTTTTTTTTAATTTTTTATTGTAGAGATGAGGTGTTGCTGTGTTCCTCAGGCTGGTCTCAAATGCCTGGGCTCAAGTCATCCTCCTACCTCGGCCTCTCGAAGTGCTGGGATTACAAACATGAACCTGTCTGTCTTTTTAAAAATTGTAAGGGAAGGAGGACTTTTGTGGCTATTGTTGCCATTTTATAGATAGAAACCAGTGGTTTTGTGATCAGCCATAGAGAGGGGAAGTAAATTCTGCTTTCAGATCCCACTAGGAGTTTATTACAGATGGAAGGAGAGTCACTTCAACCCTGAGGGACAGGCCTCAAGTCAGGGGTGGCTTCGTGCACAGCTCAGTGTCAGGGCTGCTGAGTGGTGGCCACTCTTCTTTCCTCTCTCCCTCTGTTCCTCTCATCCTTGTGTTTTGTTTCATTTTTTTCCTTCTCTCTGGACTCTGTTAGTACTAAGCCTGCCAGGAAATTCTTTCATTCACACACATTATAGACAGTGGCTAAGAGTTGTGGCTCTGCTGTTAGGCTACCTGTGTCTAGTTCTTCCATCCTGGGCAAGTCATAGCCTCCCTCAGTATAAGGGTGACTTCTATGCCCATTGCAGAGGGGAGAATGGATTTGATGAGAGGTGCATGCCAAGAGTTGGCTATTACTGTTACTTAATGCTGTTCCTGGTATTCAGAGCTAAAGGATCGAGGTTAAAATAAACTGAGGAAATACCCTGGAATGGGGACCCTCAGAATTGAGTATATATATCAGCTGGGGTCCTGCCTATCATGCAGAGTCTGAATCCTGACGTCCCTAACTAACCCAGGTTGAACCACACTGGCCATCAGGGCTCTCTGAGGCTGTTCCTCTCATGGCTGGACATTAGAACCACCTGGAGAGCTTACAGAACTGATATCCAGGCCACAGCCCAGGTCCCCTAAATCAGAAGCCCTCTAGCACCCCAGGGATTAATGCTTGCTGCCGCAAGTGAATTTTAATTTAAAACTCTCTTGTCAGTGTTTCCAGTTGGCTGCACAGTGGCTTAAAAAGATCTGAGTGTCCAGGCCAGGCACAGTGTCTCACGCCTATAGTCCCAGCACTTTGGGAGGCCGAGACAGGTGGATCATAAGGTCGGGAGTTCAAGACCAGCCTGGCCAAGATCGTGAAACGCCATCTCTATTAAAAATACAAAAATTAGCGGGGTGTGATGGTGGGCTCCTGTAATCCCAGCTACATGGGAGGCTGACGCAGATAATTGCTTGAACCTGGGAGCGGGAGGTTGCAGTGAGCGAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAACAAACAAAAAAAAACTGAGTGTCCAGTGCTGGCATTTTCTGTAGTTTGTGATGAGCATCCTGAAGTATTGTCAGCATCTCAGCTTGGAGCTGCTTCACCGCCTGCCTTCCTCACTTGTTGAGGAGAAAGGGGTAGAAACCAGAACTATGTGCCAGCATCAGAAGCTTGTGGCCAGTGGGATGTATTGGGCACCAGGGGGGAGTGATAAGGATTAATCCAAGAAGAATGAACCTTTGGGTCCTTCCTGTCACCTTTATCTGCACCCACATCACCACACTGACTATAGTTTCTAGTTCTGCCTACTAGCCACATGTTACTATTGAGCACTTGAAATGTACAAAATATTTGAATGACTTTTTAAATGTTGAAAAGATAATGTTTGATACATCGG
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GGAAGAATATGTGTACTCCGCTTTCACAAAGCACTCATATATAGATCTAGTTTCTCAAATAGCTAAAGAACTAAAAGTGTACCAGCAGTTCTGAGGCTCAGCAGTATAGCCCAAGAACTATGAACTCAGGATGATAGAAGTGAAAGACCATCACATGGTGAGGTCAAGGGATATCTGTAGGCACCTACTTCACAGGGTCCATGCTGAAAGACTGCAACCAATACACAGCGCTTATCTGGGGGCATACACTGGACCGATATAGTTTCACAATCAAAATATTTCCCAACAAAATGTGCACTGTTATTCTGGTCCCCAGTCAGCTGCACCTGGCCTGAGTTTTTTAGTCAGGAAAAATTTCTCAAAGATGATTCTGTTTTTCCTCCATAAATACTATAGGGCAATTGCCCAAAAGCCAGGCCATAAATGGCAAGAGCCACGTGCTTCACCTAGGCCCAAGTGGTTGCTGTGCCCTCAGTGTTGACAGACTAACAGGAGGGAATGGGTGTTCAGGCTTAACTAAGCCACTACTACCATCACCACCCTCCAGGTTAAAAAAAAAAAAAAAAAAAAGCCAGATTTGCTTTGTTTTAATAAAACAAACAGGGCTTGGAAAATGTAGAGTTTGCTTTTAAGACTTAAAAAACAAAACAAAACAAACAAAAAAAACCTCTCCGAAAGCATTAGATAAATAAAGGCTGTAGTTCCCAAACCATGCTTGAATCAGAATCACCTTGGGAGATTTGTGGGCCCACCCTGAGACTCACTGATTCAGTACCAGGGTTGGAGCCTAGAAACAAGCCTTTTTATAAATCTCCAAGGAGATCAAAATACACAATTGTGTTTGCAAACTACCACCGTTAATCCCGTGCTGGACACTTATGGCTCCTTTTAGTCTTAATTTGGCCAGGAAACAATAAGAACATTTCATCAGGTCTAGTCAGATGTTGGAGACTTCGCAAAATACCAGTTCACTGTGCATTCCTGGAGCCTGAGAAAATGCTGATGTAAGGTATTCAAGCGCTAGTGATTCTTGAACTGTGCTTTTTGCTGTACTCTAGCTGATATATTATGTCAGGAGAGATGCCAAACTGGATAAAAGAATGTATGGTGTCATTTGACAGTCTTCCTCTTTGATACAGCAAGATGAAACAAGCATATAATGCCACAGAAAGAGCTCTTCCAGCATTATTCTTTCTCAGACTGAGATGCACTTTCAGGTGAGGTGTTGTCTTCCCCCACAGTGCTGCAGCGAATATTAGTGCTTACTCAGTTGGTTCCCGCTGAGTGATTGGAGTCAGGAGATGGGAGGGTTGTACCTGTGACTGCTGAGTATTGCCTGCAGAATGGGCTCAGAACGCATAGTTCAGGAATTTCAGGAGAAGACGATGGTCCTTAATCCAAGGCTGGGGGTTGTTTGCACGCTGCTGTGCTGCCCTGTGGTGCACCCCTGCCTGGAGCTCCAACAGACAAGTTGACTTCTGGTGACTGTTTCTCCTTCACTTCTTAGTCCCCCTCCTCCAGCTTTTTGACATTCACCACATACATATATTATTGTCATATGATCTGTTCTTCTATATCAGTTCTTCATTTTCTACTTTAATTCCTCCTTAACTATTGTACTGATTTTTGATTGACTTACCCAGTGCCTTTTCATGGACCTCTCTTCCCACCCCCAAAATTGGTTATCTTTGGGACCTTGAAATAAATTTGTCTCTAAATTATGAATAATTGGTGTACTTAACTAACTTATGCATAATATGAATTTTATTGTGACTTACCTGTCATACTCTAATAGCCTCAGCTTCTATTTATTGCTAAAGTTTGTGTTTCTGGCTGTAAAATATTACTTATTTCACATATATCAGGGGCTTTTTATATGATTTTTTTCTTCTCTTTTTGCTCACCTGGGGAGTTCCTTCCCCTTTCCATAAACTGTGGTCCCTGCATGGCTGTGCCCCATCCCTCCTCATCTGGCTTGTCCTGCCCACATCGCCCTGCAGGGTTCTATGGCCTGGATGAGTCTGACCTCGACAAGGTCTTCCACTTGCTCACCACCACTTTCATCGGGGGACAGGAATCAGCACTTCCTCTGCGGGAGATCATCCGTCGGCTGGAGGTAAGAGCAGTTTCTGGAAAAATCTAATGGACTTCTTAAGAACTTGTATTGGCAGGATGGCTTTGAGACTAGTTTTATTTTTTTTCTTTGTCCTATCTTTCTATTTTATTTTTTCTCTGAGACAGAGTTACTGTCACCCAGGCTAGAATGCAGTGACACAGTTTGGCTCACTGCAGCCTTGACCTCCCAGTCTCAAACCATCCTCCCACCCCAACCTCTTGTATCTGGGACTACTGGTACACACCACCATGCCCAGCTAATTTTTTTTTAATTTTTTATTGTAGAGATGAGGTGTTGCTGTGTTCCTCAGGCTGGTCTCAAATGCCTGGGCTCAAGTCATCCTCCTACCTCGGCCTCTCGAAGTGCTGGGATTACAAACATGAACCTGTCTGTCTTTTTAAAAATTGTAAGGGAAGGAGGACTTTTGTGGCTATTGTTGCCATTTTATAGATAGAAACCAGTGGTTTTGTGATCAGCCATAGAGAGGGGAAGTAAATTCTGCTTTCAGATCCCACTAGGAGTTTATTACAGATGGAAGGAGAGTCACTTCAACCCTGAGGGACAGGCCTCAAGTCAGGGGTGGCTTCGTGCACAGCTCAGTGTCAGGGCTGCTGAGTGGTGGCCACTCTTCTTTCCTCTCTCCCTCTGTTCCTCTCATCCTTGTGTTTTGTTTCATTTTTTTCCTTCTCTCTGGACTCTGTTAGTACTAAGCCTGCCAGGAAATTCTTTCATTCACACACATTATAGACAGTGGCTAAGAGTTGTGGCTCTGCTGTTAGGCTACCTGTGTCTAGTTCTTCCATCCTGGGCAAGTCATAGCCTCCCTCAGTATAAGGGTGACTTCTATGCCCATTGCAGAGGGGAGAATGGATTTGATGAGAGGTGCATGCCAAGAGTTGGCTATTACTGTTACTTAATGCTGTTCCTGGTATTCAGAGCTAAAGGATCGAGGTTAAAATAAACTGAGGAAATACCCTGGAATGGGGACCCTCAGAATTGAGTATATATATCAGCTGGGGTCCTGCCTATCATGCAGAGTCTGAATCCTGACGTCCCTAACTAACCCAGGTTGAACCACACTGGCCATCAGGGCTCTCTGAGGCTGTTCCTCTCATGGCTGGACATTAGAACCACCTGGAGAGCTTACAGAACTGATATCCAGGCCACAGCCCAGGTCCCCTAAATCAGAAGCCCTCTAGCACCCCAGGGATTAATGCTTGCTGCCGCAAGTGAATTTTAATTTAAAACTCTCTTGTCAGTGTTTCCAGTTGGCTGCACAGTGGCTTAAAAAGATCTGAGTGTCCAGGCCAGGCACAGTGTCTCACGCCTATAGTCCCAGCACTTTGGGAGGCCGAGACAGGTGGATCATAAGGTCGGGAGTTCAAGACCAGCCTGGCCAAGATCGTGAAACGCCATCTCTATTAAAAATACAAAAATTAGCGGGGTGTGATGGTGGGCTCCTGTAATCCCAGCTACATGGGAGGCTGACGCAGATAATTGCTTGAACCTGGGAGCGGGAGGTTGCAGTGAGCGAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAACAAACAAAAAAAAACTGAGTGTCCAGTGCTGGCATTTTCTGTAGTTTGTGATGAGCATCCTGAAGTATTGTCAGCATCTCAGCTTGGAGCTGCTTCACCGCCTGCCTTCCTCACTTGTTGAGGAGAAAGGGGTAGAAACCAGAACTATGTGCCAGCATCAGAAGCTTGTGGCCAGTGGGATGTATTGGGCACCAGGGGGGAGTGATAAGGATTAATCCAAGAAGAATGAACCTTTGGGTCCTTCCTGTCACCTTTATCTGCACCCACATCACCACACTGACTATAGTTTCTAGTTCTGCCTACTAGCCACATGTTACTATTGAGCACTTGAAATGTACAAAATATTTGAATGACTTTTTAAATGTTGAAAAGATAATGTTTGATACATCGG
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Task1_train_11170
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A mutation found in OGDH (oxoglutarate dehydrogenase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Oxoglutaricaciduria
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GGTCTGTAAAGTGTCTGTTGGCCCACATTAGGGCCTATCTTCTTTTTATTCCATGCTGACTTGCAGTTTGCTCTCAGACTCTCATTCTGGTCCTCCAGGGCAGCTGTGCAGGTCGAGTTTTGGGCCTCTGCAGGAGTACCAGGATGAGGGCAGCCCGAGAGGGATTTCTTTTTGTTTTTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCGTCAGCCTCCTGAGTGGCTGGGATAACAGGCACATGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCGAGATGGACTTCTAAGAGCCTGGTGCCTCCTCTCGCTCCTGGCACCTCTCCTCTTCCTGAATTCCTCCCTGCCGAGCTCTGCAGATCTGGATGCTGCTTCCTCACCCAGCTGTGCAGTGTGAACGTGGTACAGGACATCTTGATCTGCTCAGGATCCTGACTTTTGTCTTATGGGCAATCTTGCTTCCTGAGGCAGAAGGATCATTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATAGTGAGACCTCATCTCTCCAAAAAATTCAAAACATGAGGCAAGAAGATCACTTGAGCTCAAGAGGTTGAGGCTGCAACGGGCTCTGATAGCGCTACTGCACTCCCGCCTCGATGACAGAGACCCTGCCTCAAAAAAATAAATAAATAAATAAATAATTTTTAAAACCTGCAAATCTTTAACAGCCATTGAGCCTATGACACCCTATGGGCATTTCCTGTCATGGGTGCTGGTACAGGTCTGACCTTGATGACAGCCTGTCTTCCCTGGGGAAGGACCCAGTTCCACAACTGTTGCGGTCTGTGCTTCTTGCCACAAAGGTAACAGAGTAGAACTGGGGTTGTCCCTTGGCCTGCCCTTGGAAGGCTAGGAGGTTCTCTGTGTACAAGTGACCCAGGTCCCTGAAGGAAGCACTTCATGACCCTATGAAGAGGGCTTCTGCCTGGCACCCACTCCATCCCATCCTCAGTCACACTTGATTGGAGTACATTTCAGAACAAGCCTCCTGCTTATCCCCTCCTTCTGGCTGAATGGGCAGTCGGCAGTCTTCATTCAGCCAGGCCTGGTTAGAAATCCCCTTGACTGTGTGTTTCTGTATGGAATAGATGGCCTACTGCCAGCATATTGGGGTGGAGTTCATGTTCATCAATGACCTGGAGCAGTGCCAGTGGATCCGGCAGAAGTTTGAGACCCCTGGGATCATGCAGTTCACAAATGAGGAGAAACGGACCCTGCTGGCCAGGCTTGTGCGGTCCACCAGGTATGGGTCTGGCCCTGGGCCATGGGGCAGACATTCCCAGGGAAGCAGTGACCCTGTCTGTGTTGATCGGGCCTGTGTGCAGCCTGTTGGCCGAGGTGAGAGGGGGTTTGGGGTGGTACAGGCAAAGCTCCATCTGCACATGTGTGAAGAGACACCAGACAAGTAGAGTCAGCCTTCAGAGCAACCTCCGCCTCCTGAATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGAGGCACACCACCACGGCTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGCTGATCTGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCTCCATGCCTGGCCAGAATCCCCTCTTTTTGGTCAGGAAGAGTGACATTGCCCTTCAAGGTGGCTTGGTTCCCTGTCCAGGTTTGAGGAGTTCCTACAGCGGAAGTGGTCCTCTGAGAAGCGCTTTGGTCTAGAAGGCTGCGAGGTACTGATCCCTGCCCTCAAGACCATCATTGACAAGTCTAGTGAGAATGGCGTGGACTACGTGATCATGGGCATGCCACACAGGTACAGCCAAGGGCGCGCCCAACCTGGTTTCTCACCATCCCTGTGGGCTGTGTAGGAGGCACCAGGTAAAGGCACTGAGAGAGCAGCTGTTTCCTCCTTGAGTGCCAGTTGTGAGTCTGGGCTCATCTGGTACCTGAGGGTGTATTGCTTTGCAGGGGATTCTCACATTGCCTGCCTCTGGAGGACTGCAAAGTCATGGTCACCTCCAAAGCCACATGTAGTTTCAGACTGGCATTTGGCCTTACAGTGCATCTTTATGAAAATTAAACCCAAGTTCCCTTGTTGGGGTCTAACCTGGAGGGAAGGCTGCTTCCTGACATTGAAGGGGAGGCCAAGACTGTGAAAATAGGGAAGGTGTGGGGAGGGAGAAGGGTAAGGAAGCCTCAGGCCCATGGCATTGCTGCATCTTCTATCTTTCTGCTGCCCACTGTGGCCTTGATTGCCCAGCACGGAGAGGCTCGGTTCCCACATTAGCTCCAGTTTACAGCTATCCTTGGGCTGCAAACCGAGGAGGTGCCGTGTCCTGGGGGGAGGGGGAGGGGGGGATTGTAACACCCTCATCTGCCATCTGGAAACCATGACCTCAGGCTCTGCTCACCCTACTCGCCCATACGTTCCAGAGGGCGGCTGAACGTGCTTGCAAATGTCATCAGGAAGGAGCTGGAACAGATCTTCTGTCAATTCGATTCAAAGCTGGAGGCAGCTGATGAGGTGAGGCACCTGCATAGAGACACATCCAGCATAGCCCCAACTTACACAAGACCCCTGGCTCCACTTCTTTCTTAGAATGACTTACGGGGGGTTGGTTCTTCTGTACCATTTGTGATTTGCCTTCCTTGTTGGGAGAATTTTAGTGTTGGGACAAAGGTGGCCAGTGGCCCACCTCCTGGTCAGAGGTCCAGCAGCCCCACTCTGAGTGCAGGGGTGTGTCCCCTCTGGCTGAGGGACGTTCTCCTTATGCCCTGGATGGGAATGATCCTGGGAAAAGGCCTCCATATCCTTCTGCGTTGGGTTCCTGGGAGTAGAAATCCCATATAAGGCTGGGCATGGTGGCTCACATCCGTAACCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACGTGAGGTCGAGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAAGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAATTCCCGTATAAAAGGGCTCTTTTGGAGACTGAGCATCTCCTTGGCCAGGGTGCAAATTCACTGTTTACCCCATCAGGGCTCCGGAGATGTGAAGTACCACCTGGGCATGTATCACCGCAGGATCAATCGTGTCACCGACAGGAACATTACCTTGTCCTTGGTGGCCAACCCTTCCCACCTTGAGGCCGCTGACCCCGTGGTGATGGGCAAGACCAAAGCCGAACAGTTTTACTGTGGCGACACTGAAGGGAAAAAGGTAAGGCCCAGAGAGAGGCGTGCAAGGCAGATCGTCAAGGCCCCATGTTCCAGCATGGAGTTCCGCTCACCAACATAACCCAGAGCCCTGGGTGCATCTAGACTTTAAAAAAATATTTAAAGTCGGCCGGGCGCAGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGTTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACTCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCATTGCACTCCAGCCTGGGCCAACAAGAGCGAAACTCTGTCTCAAA
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GGTCTGTAAAGTGTCTGTTGGCCCACATTAGGGCCTATCTTCTTTTTATTCCATGCTGACTTGCAGTTTGCTCTCAGACTCTCATTCTGGTCCTCCAGGGCAGCTGTGCAGGTCGAGTTTTGGGCCTCTGCAGGAGTACCAGGATGAGGGCAGCCCGAGAGGGATTTCTTTTTGTTTTTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCGTCAGCCTCCTGAGTGGCTGGGATAACAGGCACATGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCGAGATGGACTTCTAAGAGCCTGGTGCCTCCTCTCGCTCCTGGCACCTCTCCTCTTCCTGAATTCCTCCCTGCCGAGCTCTGCAGATCTGGATGCTGCTTCCTCACCCAGCTGTGCAGTGTGAACGTGGTACAGGACATCTTGATCTGCTCAGGATCCTGACTTTTGTCTTATGGGCAATCTTGCTTCCTGAGGCAGAAGGATCATTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATAGTGAGACCTCATCTCTCCAAAAAATTCAAAACATGAGGCAAGAAGATCACTTGAGCTCAAGAGGTTGAGGCTGCAACGGGCTCTGATAGCGCTACTGCACTCCCGCCTCGATGACAGAGACCCTGCCTCAAAAAAATAAATAAATAAATAAATAATTTTTAAAACCTGCAAATCTTTAACAGCCATTGAGCCTATGACACCCTATGGGCATTTCCTGTCATGGGTGCTGGTACAGGTCTGACCTTGATGACAGCCTGTCTTCCCTGGGGAAGGACCCAGTTCCACAACTGTTGCGGTCTGTGCTTCTTGCCACAAAGGTAACAGAGTAGAACTGGGGTTGTCCCTTGGCCTGCCCTTGGAAGGCTAGGAGGTTCTCTGTGTACAAGTGACCCAGGTCCCTGAAGGAAGCACTTCATGACCCTATGAAGAGGGCTTCTGCCTGGCACCCACTCCATCCCATCCTCAGTCACACTTGATTGGAGTACATTTCAGAACAAGCCTCCTGCTTATCCCCTCCTTCTGGCTGAATGGGCAGTCGGCAGTCTTCATTCAGCCAGGCCTGGTTAGAAATCCCCTTGACTGTGTGTTTCTGTATGGAATAGATGGCCTACTGCCAGCATATTGGGGTGGAGTTCATGTTCATCAATGACCTGGAGCAGTGCCAGTGGATCCGGCAGAAGTTTGAGACCCCTGGGATCATGCAGTTCACAAATGAGGAGAAACGGACCCTGCTGGCCAGGCTTGTGCGGTCCACCAGGTATGGGTCTGGCCCTGGGCCATGGGGCAGACATTCCCAGGGAAGCAGTGACCCTGTCTGTGTTGATCGGGCCTGTGTGCAGCCTGTTGGCCGAGGTGAGAGGGGGTTTGGGGTGGTACAGGCAAAGCTCCATCTGCACATGTGTGAAGAGACACCAGACAAGTAGAGTCAGCCTTCAGAGCAACCTCCGCCTCCTGAATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGAGGCACACCACCACGGCTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGCTGATCTGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCTCCATGCCTGGCCAGAATCCCCTCTTTTTGGTCAGGAAGAGTGACATTGCCCTTCAAGGTGGCTTGGTTCCCTGTCCAGGTTTGAGGAGTTCCTACAGCGGAAGTGGTCCTCTGAGAAGCGCTTTGGTCTAGAAGGCTGCGAGGTACTGATCCCTGCCCTCAAGACCATCATTGACAAGTATAGTGAGAATGGCGTGGACTACGTGATCATGGGCATGCCACACAGGTACAGCCAAGGGCGCGCCCAACCTGGTTTCTCACCATCCCTGTGGGCTGTGTAGGAGGCACCAGGTAAAGGCACTGAGAGAGCAGCTGTTTCCTCCTTGAGTGCCAGTTGTGAGTCTGGGCTCATCTGGTACCTGAGGGTGTATTGCTTTGCAGGGGATTCTCACATTGCCTGCCTCTGGAGGACTGCAAAGTCATGGTCACCTCCAAAGCCACATGTAGTTTCAGACTGGCATTTGGCCTTACAGTGCATCTTTATGAAAATTAAACCCAAGTTCCCTTGTTGGGGTCTAACCTGGAGGGAAGGCTGCTTCCTGACATTGAAGGGGAGGCCAAGACTGTGAAAATAGGGAAGGTGTGGGGAGGGAGAAGGGTAAGGAAGCCTCAGGCCCATGGCATTGCTGCATCTTCTATCTTTCTGCTGCCCACTGTGGCCTTGATTGCCCAGCACGGAGAGGCTCGGTTCCCACATTAGCTCCAGTTTACAGCTATCCTTGGGCTGCAAACCGAGGAGGTGCCGTGTCCTGGGGGGAGGGGGAGGGGGGGATTGTAACACCCTCATCTGCCATCTGGAAACCATGACCTCAGGCTCTGCTCACCCTACTCGCCCATACGTTCCAGAGGGCGGCTGAACGTGCTTGCAAATGTCATCAGGAAGGAGCTGGAACAGATCTTCTGTCAATTCGATTCAAAGCTGGAGGCAGCTGATGAGGTGAGGCACCTGCATAGAGACACATCCAGCATAGCCCCAACTTACACAAGACCCCTGGCTCCACTTCTTTCTTAGAATGACTTACGGGGGGTTGGTTCTTCTGTACCATTTGTGATTTGCCTTCCTTGTTGGGAGAATTTTAGTGTTGGGACAAAGGTGGCCAGTGGCCCACCTCCTGGTCAGAGGTCCAGCAGCCCCACTCTGAGTGCAGGGGTGTGTCCCCTCTGGCTGAGGGACGTTCTCCTTATGCCCTGGATGGGAATGATCCTGGGAAAAGGCCTCCATATCCTTCTGCGTTGGGTTCCTGGGAGTAGAAATCCCATATAAGGCTGGGCATGGTGGCTCACATCCGTAACCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACGTGAGGTCGAGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAAGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAATTCCCGTATAAAAGGGCTCTTTTGGAGACTGAGCATCTCCTTGGCCAGGGTGCAAATTCACTGTTTACCCCATCAGGGCTCCGGAGATGTGAAGTACCACCTGGGCATGTATCACCGCAGGATCAATCGTGTCACCGACAGGAACATTACCTTGTCCTTGGTGGCCAACCCTTCCCACCTTGAGGCCGCTGACCCCGTGGTGATGGGCAAGACCAAAGCCGAACAGTTTTACTGTGGCGACACTGAAGGGAAAAAGGTAAGGCCCAGAGAGAGGCGTGCAAGGCAGATCGTCAAGGCCCCATGTTCCAGCATGGAGTTCCGCTCACCAACATAACCCAGAGCCCTGGGTGCATCTAGACTTTAAAAAAATATTTAAAGTCGGCCGGGCGCAGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGTTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACTCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCATTGCACTCCAGCCTGGGCCAACAAGAGCGAAACTCTGTCTCAAA
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Task1_train_11171
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Gene OGDH (oxoglutarate dehydrogenase) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Oxoglutaricaciduria
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TTATTCCATGCTGACTTGCAGTTTGCTCTCAGACTCTCATTCTGGTCCTCCAGGGCAGCTGTGCAGGTCGAGTTTTGGGCCTCTGCAGGAGTACCAGGATGAGGGCAGCCCGAGAGGGATTTCTTTTTGTTTTTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCGTCAGCCTCCTGAGTGGCTGGGATAACAGGCACATGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCGAGATGGACTTCTAAGAGCCTGGTGCCTCCTCTCGCTCCTGGCACCTCTCCTCTTCCTGAATTCCTCCCTGCCGAGCTCTGCAGATCTGGATGCTGCTTCCTCACCCAGCTGTGCAGTGTGAACGTGGTACAGGACATCTTGATCTGCTCAGGATCCTGACTTTTGTCTTATGGGCAATCTTGCTTCCTGAGGCAGAAGGATCATTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATAGTGAGACCTCATCTCTCCAAAAAATTCAAAACATGAGGCAAGAAGATCACTTGAGCTCAAGAGGTTGAGGCTGCAACGGGCTCTGATAGCGCTACTGCACTCCCGCCTCGATGACAGAGACCCTGCCTCAAAAAAATAAATAAATAAATAAATAATTTTTAAAACCTGCAAATCTTTAACAGCCATTGAGCCTATGACACCCTATGGGCATTTCCTGTCATGGGTGCTGGTACAGGTCTGACCTTGATGACAGCCTGTCTTCCCTGGGGAAGGACCCAGTTCCACAACTGTTGCGGTCTGTGCTTCTTGCCACAAAGGTAACAGAGTAGAACTGGGGTTGTCCCTTGGCCTGCCCTTGGAAGGCTAGGAGGTTCTCTGTGTACAAGTGACCCAGGTCCCTGAAGGAAGCACTTCATGACCCTATGAAGAGGGCTTCTGCCTGGCACCCACTCCATCCCATCCTCAGTCACACTTGATTGGAGTACATTTCAGAACAAGCCTCCTGCTTATCCCCTCCTTCTGGCTGAATGGGCAGTCGGCAGTCTTCATTCAGCCAGGCCTGGTTAGAAATCCCCTTGACTGTGTGTTTCTGTATGGAATAGATGGCCTACTGCCAGCATATTGGGGTGGAGTTCATGTTCATCAATGACCTGGAGCAGTGCCAGTGGATCCGGCAGAAGTTTGAGACCCCTGGGATCATGCAGTTCACAAATGAGGAGAAACGGACCCTGCTGGCCAGGCTTGTGCGGTCCACCAGGTATGGGTCTGGCCCTGGGCCATGGGGCAGACATTCCCAGGGAAGCAGTGACCCTGTCTGTGTTGATCGGGCCTGTGTGCAGCCTGTTGGCCGAGGTGAGAGGGGGTTTGGGGTGGTACAGGCAAAGCTCCATCTGCACATGTGTGAAGAGACACCAGACAAGTAGAGTCAGCCTTCAGAGCAACCTCCGCCTCCTGAATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGAGGCACACCACCACGGCTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGCTGATCTGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCTCCATGCCTGGCCAGAATCCCCTCTTTTTGGTCAGGAAGAGTGACATTGCCCTTCAAGGTGGCTTGGTTCCCTGTCCAGGTTTGAGGAGTTCCTACAGCGGAAGTGGTCCTCTGAGAAGCGCTTTGGTCTAGAAGGCTGCGAGGTACTGATCCCTGCCCTCAAGACCATCATTGACAAGTCTAGTGAGAATGGCGTGGACTACGTGATCATGGGCATGCCACACAGGTACAGCCAAGGGCGCGCCCAACCTGGTTTCTCACCATCCCTGTGGGCTGTGTAGGAGGCACCAGGTAAAGGCACTGAGAGAGCAGCTGTTTCCTCCTTGAGTGCCAGTTGTGAGTCTGGGCTCATCTGGTACCTGAGGGTGTATTGCTTTGCAGGGGATTCTCACATTGCCTGCCTCTGGAGGACTGCAAAGTCATGGTCACCTCCAAAGCCACATGTAGTTTCAGACTGGCATTTGGCCTTACAGTGCATCTTTATGAAAATTAAACCCAAGTTCCCTTGTTGGGGTCTAACCTGGAGGGAAGGCTGCTTCCTGACATTGAAGGGGAGGCCAAGACTGTGAAAATAGGGAAGGTGTGGGGAGGGAGAAGGGTAAGGAAGCCTCAGGCCCATGGCATTGCTGCATCTTCTATCTTTCTGCTGCCCACTGTGGCCTTGATTGCCCAGCACGGAGAGGCTCGGTTCCCACATTAGCTCCAGTTTACAGCTATCCTTGGGCTGCAAACCGAGGAGGTGCCGTGTCCTGGGGGGAGGGGGAGGGGGGGATTGTAACACCCTCATCTGCCATCTGGAAACCATGACCTCAGGCTCTGCTCACCCTACTCGCCCATACGTTCCAGAGGGCGGCTGAACGTGCTTGCAAATGTCATCAGGAAGGAGCTGGAACAGATCTTCTGTCAATTCGATTCAAAGCTGGAGGCAGCTGATGAGGTGAGGCACCTGCATAGAGACACATCCAGCATAGCCCCAACTTACACAAGACCCCTGGCTCCACTTCTTTCTTAGAATGACTTACGGGGGGTTGGTTCTTCTGTACCATTTGTGATTTGCCTTCCTTGTTGGGAGAATTTTAGTGTTGGGACAAAGGTGGCCAGTGGCCCACCTCCTGGTCAGAGGTCCAGCAGCCCCACTCTGAGTGCAGGGGTGTGTCCCCTCTGGCTGAGGGACGTTCTCCTTATGCCCTGGATGGGAATGATCCTGGGAAAAGGCCTCCATATCCTTCTGCGTTGGGTTCCTGGGAGTAGAAATCCCATATAAGGCTGGGCATGGTGGCTCACATCCGTAACCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACGTGAGGTCGAGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAAGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAATTCCCGTATAAAAGGGCTCTTTTGGAGACTGAGCATCTCCTTGGCCAGGGTGCAAATTCACTGTTTACCCCATCAGGGCTCCGGAGATGTGAAGTACCACCTGGGCATGTATCACCGCAGGATCAATCGTGTCACCGACAGGAACATTACCTTGTCCTTGGTGGCCAACCCTTCCCACCTTGAGGCCGCTGACCCCGTGGTGATGGGCAAGACCAAAGCCGAACAGTTTTACTGTGGCGACACTGAAGGGAAAAAGGTAAGGCCCAGAGAGAGGCGTGCAAGGCAGATCGTCAAGGCCCCATGTTCCAGCATGGAGTTCCGCTCACCAACATAACCCAGAGCCCTGGGTGCATCTAGACTTTAAAAAAATATTTAAAGTCGGCCGGGCGCAGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGTTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACTCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCATTGCACTCCAGCCTGGGCCAACAAGAGCGAAACTCTGTCTCAAAGAAAAAAATAAATAAATAAAAAATATATGTATATGTATGTATGTG
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TTATTCCATGCTGACTTGCAGTTTGCTCTCAGACTCTCATTCTGGTCCTCCAGGGCAGCTGTGCAGGTCGAGTTTTGGGCCTCTGCAGGAGTACCAGGATGAGGGCAGCCCGAGAGGGATTTCTTTTTGTTTTTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCGTCAGCCTCCTGAGTGGCTGGGATAACAGGCACATGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCGAGATGGACTTCTAAGAGCCTGGTGCCTCCTCTCGCTCCTGGCACCTCTCCTCTTCCTGAATTCCTCCCTGCCGAGCTCTGCAGATCTGGATGCTGCTTCCTCACCCAGCTGTGCAGTGTGAACGTGGTACAGGACATCTTGATCTGCTCAGGATCCTGACTTTTGTCTTATGGGCAATCTTGCTTCCTGAGGCAGAAGGATCATTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATAGTGAGACCTCATCTCTCCAAAAAATTCAAAACATGAGGCAAGAAGATCACTTGAGCTCAAGAGGTTGAGGCTGCAACGGGCTCTGATAGCGCTACTGCACTCCCGCCTCGATGACAGAGACCCTGCCTCAAAAAAATAAATAAATAAATAAATAATTTTTAAAACCTGCAAATCTTTAACAGCCATTGAGCCTATGACACCCTATGGGCATTTCCTGTCATGGGTGCTGGTACAGGTCTGACCTTGATGACAGCCTGTCTTCCCTGGGGAAGGACCCAGTTCCACAACTGTTGCGGTCTGTGCTTCTTGCCACAAAGGTAACAGAGTAGAACTGGGGTTGTCCCTTGGCCTGCCCTTGGAAGGCTAGGAGGTTCTCTGTGTACAAGTGACCCAGGTCCCTGAAGGAAGCACTTCATGACCCTATGAAGAGGGCTTCTGCCTGGCACCCACTCCATCCCATCCTCAGTCACACTTGATTGGAGTACATTTCAGAACAAGCCTCCTGCTTATCCCCTCCTTCTGGCTGAATGGGCAGTCGGCAGTCTTCATTCAGCCAGGCCTGGTTAGAAATCCCCTTGACTGTGTGTTTCTGTATGGAATAGATGGCCTACTGCCAGCATATTGGGGTGGAGTTCATGTTCATCAATGACCTGGAGCAGTGCCAGTGGATCCGGCAGAAGTTTGAGACCCCTGGGATCATGCAGTTCACAAATGAGGAGAAACGGACCCTGCTGGCCAGGCTTGTGCGGTCCACCAGGTATGGGTCTGGCCCTGGGCCATGGGGCAGACATTCCCAGGGAAGCAGTGACCCTGTCTGTGTTGATCGGGCCTGTGTGCAGCCTGTTGGCCGAGGTGAGAGGGGGTTTGGGGTGGTACAGGCAAAGCTCCATCTGCACATGTGTGAAGAGACACCAGACAAGTAGAGTCAGCCTTCAGAGCAACCTCCGCCTCCTGAATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGAGGCACACCACCACGGCTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGCTGATCTGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCTCCATGCCTGGCCAGAATCCCCTCTTTTTGGTCAGGAAGAGTGACATTGCCCTTCAAGGTGGCTTGGTTCCCTGTCCAGGTTTGAGGAGTTCCTACAGCGGAAGTGGTCCTCTGAGAAGCGCTTTGGTCTAGAAGGCTGCGAGGTACTGATCCCTGCCCTCAAGACCATCATTGACAAGTCTAGTGAGAATGGCGTGGACTACGTGATCATGGGCATGCCACACAAGTACAGCCAAGGGCGCGCCCAACCTGGTTTCTCACCATCCCTGTGGGCTGTGTAGGAGGCACCAGGTAAAGGCACTGAGAGAGCAGCTGTTTCCTCCTTGAGTGCCAGTTGTGAGTCTGGGCTCATCTGGTACCTGAGGGTGTATTGCTTTGCAGGGGATTCTCACATTGCCTGCCTCTGGAGGACTGCAAAGTCATGGTCACCTCCAAAGCCACATGTAGTTTCAGACTGGCATTTGGCCTTACAGTGCATCTTTATGAAAATTAAACCCAAGTTCCCTTGTTGGGGTCTAACCTGGAGGGAAGGCTGCTTCCTGACATTGAAGGGGAGGCCAAGACTGTGAAAATAGGGAAGGTGTGGGGAGGGAGAAGGGTAAGGAAGCCTCAGGCCCATGGCATTGCTGCATCTTCTATCTTTCTGCTGCCCACTGTGGCCTTGATTGCCCAGCACGGAGAGGCTCGGTTCCCACATTAGCTCCAGTTTACAGCTATCCTTGGGCTGCAAACCGAGGAGGTGCCGTGTCCTGGGGGGAGGGGGAGGGGGGGATTGTAACACCCTCATCTGCCATCTGGAAACCATGACCTCAGGCTCTGCTCACCCTACTCGCCCATACGTTCCAGAGGGCGGCTGAACGTGCTTGCAAATGTCATCAGGAAGGAGCTGGAACAGATCTTCTGTCAATTCGATTCAAAGCTGGAGGCAGCTGATGAGGTGAGGCACCTGCATAGAGACACATCCAGCATAGCCCCAACTTACACAAGACCCCTGGCTCCACTTCTTTCTTAGAATGACTTACGGGGGGTTGGTTCTTCTGTACCATTTGTGATTTGCCTTCCTTGTTGGGAGAATTTTAGTGTTGGGACAAAGGTGGCCAGTGGCCCACCTCCTGGTCAGAGGTCCAGCAGCCCCACTCTGAGTGCAGGGGTGTGTCCCCTCTGGCTGAGGGACGTTCTCCTTATGCCCTGGATGGGAATGATCCTGGGAAAAGGCCTCCATATCCTTCTGCGTTGGGTTCCTGGGAGTAGAAATCCCATATAAGGCTGGGCATGGTGGCTCACATCCGTAACCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACGTGAGGTCGAGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAAGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAATTCCCGTATAAAAGGGCTCTTTTGGAGACTGAGCATCTCCTTGGCCAGGGTGCAAATTCACTGTTTACCCCATCAGGGCTCCGGAGATGTGAAGTACCACCTGGGCATGTATCACCGCAGGATCAATCGTGTCACCGACAGGAACATTACCTTGTCCTTGGTGGCCAACCCTTCCCACCTTGAGGCCGCTGACCCCGTGGTGATGGGCAAGACCAAAGCCGAACAGTTTTACTGTGGCGACACTGAAGGGAAAAAGGTAAGGCCCAGAGAGAGGCGTGCAAGGCAGATCGTCAAGGCCCCATGTTCCAGCATGGAGTTCCGCTCACCAACATAACCCAGAGCCCTGGGTGCATCTAGACTTTAAAAAAATATTTAAAGTCGGCCGGGCGCAGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGTTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACTCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCATTGCACTCCAGCCTGGGCCAACAAGAGCGAAACTCTGTCTCAAAGAAAAAAATAAATAAATAAAAAATATATGTATATGTATGTATGTG
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Task1_train_11172
|
Gene OGDH (oxoglutarate dehydrogenase) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Oxoglutaricaciduria
|
CCCAGGAGTTCAAGACCAGCCTGGGTAACATAGTGAGACCTCATCTCTCCAAAAAATTCAAAACATGAGGCAAGAAGATCACTTGAGCTCAAGAGGTTGAGGCTGCAACGGGCTCTGATAGCGCTACTGCACTCCCGCCTCGATGACAGAGACCCTGCCTCAAAAAAATAAATAAATAAATAAATAATTTTTAAAACCTGCAAATCTTTAACAGCCATTGAGCCTATGACACCCTATGGGCATTTCCTGTCATGGGTGCTGGTACAGGTCTGACCTTGATGACAGCCTGTCTTCCCTGGGGAAGGACCCAGTTCCACAACTGTTGCGGTCTGTGCTTCTTGCCACAAAGGTAACAGAGTAGAACTGGGGTTGTCCCTTGGCCTGCCCTTGGAAGGCTAGGAGGTTCTCTGTGTACAAGTGACCCAGGTCCCTGAAGGAAGCACTTCATGACCCTATGAAGAGGGCTTCTGCCTGGCACCCACTCCATCCCATCCTCAGTCACACTTGATTGGAGTACATTTCAGAACAAGCCTCCTGCTTATCCCCTCCTTCTGGCTGAATGGGCAGTCGGCAGTCTTCATTCAGCCAGGCCTGGTTAGAAATCCCCTTGACTGTGTGTTTCTGTATGGAATAGATGGCCTACTGCCAGCATATTGGGGTGGAGTTCATGTTCATCAATGACCTGGAGCAGTGCCAGTGGATCCGGCAGAAGTTTGAGACCCCTGGGATCATGCAGTTCACAAATGAGGAGAAACGGACCCTGCTGGCCAGGCTTGTGCGGTCCACCAGGTATGGGTCTGGCCCTGGGCCATGGGGCAGACATTCCCAGGGAAGCAGTGACCCTGTCTGTGTTGATCGGGCCTGTGTGCAGCCTGTTGGCCGAGGTGAGAGGGGGTTTGGGGTGGTACAGGCAAAGCTCCATCTGCACATGTGTGAAGAGACACCAGACAAGTAGAGTCAGCCTTCAGAGCAACCTCCGCCTCCTGAATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGAGGCACACCACCACGGCTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGCTGATCTGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCTCCATGCCTGGCCAGAATCCCCTCTTTTTGGTCAGGAAGAGTGACATTGCCCTTCAAGGTGGCTTGGTTCCCTGTCCAGGTTTGAGGAGTTCCTACAGCGGAAGTGGTCCTCTGAGAAGCGCTTTGGTCTAGAAGGCTGCGAGGTACTGATCCCTGCCCTCAAGACCATCATTGACAAGTCTAGTGAGAATGGCGTGGACTACGTGATCATGGGCATGCCACACAGGTACAGCCAAGGGCGCGCCCAACCTGGTTTCTCACCATCCCTGTGGGCTGTGTAGGAGGCACCAGGTAAAGGCACTGAGAGAGCAGCTGTTTCCTCCTTGAGTGCCAGTTGTGAGTCTGGGCTCATCTGGTACCTGAGGGTGTATTGCTTTGCAGGGGATTCTCACATTGCCTGCCTCTGGAGGACTGCAAAGTCATGGTCACCTCCAAAGCCACATGTAGTTTCAGACTGGCATTTGGCCTTACAGTGCATCTTTATGAAAATTAAACCCAAGTTCCCTTGTTGGGGTCTAACCTGGAGGGAAGGCTGCTTCCTGACATTGAAGGGGAGGCCAAGACTGTGAAAATAGGGAAGGTGTGGGGAGGGAGAAGGGTAAGGAAGCCTCAGGCCCATGGCATTGCTGCATCTTCTATCTTTCTGCTGCCCACTGTGGCCTTGATTGCCCAGCACGGAGAGGCTCGGTTCCCACATTAGCTCCAGTTTACAGCTATCCTTGGGCTGCAAACCGAGGAGGTGCCGTGTCCTGGGGGGAGGGGGAGGGGGGGATTGTAACACCCTCATCTGCCATCTGGAAACCATGACCTCAGGCTCTGCTCACCCTACTCGCCCATACGTTCCAGAGGGCGGCTGAACGTGCTTGCAAATGTCATCAGGAAGGAGCTGGAACAGATCTTCTGTCAATTCGATTCAAAGCTGGAGGCAGCTGATGAGGTGAGGCACCTGCATAGAGACACATCCAGCATAGCCCCAACTTACACAAGACCCCTGGCTCCACTTCTTTCTTAGAATGACTTACGGGGGGTTGGTTCTTCTGTACCATTTGTGATTTGCCTTCCTTGTTGGGAGAATTTTAGTGTTGGGACAAAGGTGGCCAGTGGCCCACCTCCTGGTCAGAGGTCCAGCAGCCCCACTCTGAGTGCAGGGGTGTGTCCCCTCTGGCTGAGGGACGTTCTCCTTATGCCCTGGATGGGAATGATCCTGGGAAAAGGCCTCCATATCCTTCTGCGTTGGGTTCCTGGGAGTAGAAATCCCATATAAGGCTGGGCATGGTGGCTCACATCCGTAACCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACGTGAGGTCGAGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAAGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAATTCCCGTATAAAAGGGCTCTTTTGGAGACTGAGCATCTCCTTGGCCAGGGTGCAAATTCACTGTTTACCCCATCAGGGCTCCGGAGATGTGAAGTACCACCTGGGCATGTATCACCGCAGGATCAATCGTGTCACCGACAGGAACATTACCTTGTCCTTGGTGGCCAACCCTTCCCACCTTGAGGCCGCTGACCCCGTGGTGATGGGCAAGACCAAAGCCGAACAGTTTTACTGTGGCGACACTGAAGGGAAAAAGGTAAGGCCCAGAGAGAGGCGTGCAAGGCAGATCGTCAAGGCCCCATGTTCCAGCATGGAGTTCCGCTCACCAACATAACCCAGAGCCCTGGGTGCATCTAGACTTTAAAAAAATATTTAAAGTCGGCCGGGCGCAGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGTTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACTCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCATTGCACTCCAGCCTGGGCCAACAAGAGCGAAACTCTGTCTCAAAGAAAAAAATAAATAAATAAAAAATATATGTATATGTATGTATGTGTGTGTGTGTGTATATATATATATATATATATATATATTTAAAATCAACTTTTAAAGAATAGCAATAGTAAAACAGTCCTGCTTACAGTGTTCCTTTTCCTGAAGTTGTAATTGTCAGAACTATGTGGGAAGTTTGCTTTTGTCTTCACCAAATCTGTTAAGGAGCCAGGTTGCAGTTATTCTGAATGGACAGAGATGTTTTCACTGAAAAGGAGGGGAGTCTGAGAGTCTCTGTAAGGAAAAAGTGTAGGTGAGCCTGAAGGAGAAATTGTAGAACTGAGACTTGTCAGGAGAGTCATGCTTGCTGTGATTAGAGGCGGGAGTTCACGGGCTGGTAGGAGACGGAGGAGGGCACAGACTGCAGGCAGGTGGGGTCCTGCTTCACCATTTCTGGTCATGTGACTGAGTGTTGGGGGTTGACTCGCCTGCCTGCTTGTGTAGAAATAGTCTCAACAGATTGTAACAATTTGCCCTTATTTAACTTCAAGATAGAATCTTGTCTGACAAATTTTATATTTCCTATTAATGATGACCTAAAAACCAAATAATCAGAAAAAAAATCAAATATTTGTAATGTCTTATGTATGGGTTCTGGGAAACATATAAAGAAGGCATCACCACTTTTCTCTCCAGAGCCTCCTGTTC
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CCCAGGAGTTCAAGACCAGCCTGGGTAACATAGTGAGACCTCATCTCTCCAAAAAATTCAAAACATGAGGCAAGAAGATCACTTGAGCTCAAGAGGTTGAGGCTGCAACGGGCTCTGATAGCGCTACTGCACTCCCGCCTCGATGACAGAGACCCTGCCTCAAAAAAATAAATAAATAAATAAATAATTTTTAAAACCTGCAAATCTTTAACAGCCATTGAGCCTATGACACCCTATGGGCATTTCCTGTCATGGGTGCTGGTACAGGTCTGACCTTGATGACAGCCTGTCTTCCCTGGGGAAGGACCCAGTTCCACAACTGTTGCGGTCTGTGCTTCTTGCCACAAAGGTAACAGAGTAGAACTGGGGTTGTCCCTTGGCCTGCCCTTGGAAGGCTAGGAGGTTCTCTGTGTACAAGTGACCCAGGTCCCTGAAGGAAGCACTTCATGACCCTATGAAGAGGGCTTCTGCCTGGCACCCACTCCATCCCATCCTCAGTCACACTTGATTGGAGTACATTTCAGAACAAGCCTCCTGCTTATCCCCTCCTTCTGGCTGAATGGGCAGTCGGCAGTCTTCATTCAGCCAGGCCTGGTTAGAAATCCCCTTGACTGTGTGTTTCTGTATGGAATAGATGGCCTACTGCCAGCATATTGGGGTGGAGTTCATGTTCATCAATGACCTGGAGCAGTGCCAGTGGATCCGGCAGAAGTTTGAGACCCCTGGGATCATGCAGTTCACAAATGAGGAGAAACGGACCCTGCTGGCCAGGCTTGTGCGGTCCACCAGGTATGGGTCTGGCCCTGGGCCATGGGGCAGACATTCCCAGGGAAGCAGTGACCCTGTCTGTGTTGATCGGGCCTGTGTGCAGCCTGTTGGCCGAGGTGAGAGGGGGTTTGGGGTGGTACAGGCAAAGCTCCATCTGCACATGTGTGAAGAGACACCAGACAAGTAGAGTCAGCCTTCAGAGCAACCTCCGCCTCCTGAATTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCAGGGATTACAGAGGCACACCACCACGGCTGGCTAATTTTTATATTTTTAGTAGAGATGAGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGCTGATCTGCCCACCTCGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCTCCATGCCTGGCCAGAATCCCCTCTTTTTGGTCAGGAAGAGTGACATTGCCCTTCAAGGTGGCTTGGTTCCCTGTCCAGGTTTGAGGAGTTCCTACAGCGGAAGTGGTCCTCTGAGAAGCGCTTTGGTCTAGAAGGCTGCGAGGTACTGATCCCTGCCCTCAAGACCATCATTGACAAGTCTAGTGAGAATGGCGTGGACTACGTGATCATGGGCATGCCACACAGGTACAGCCAAGGGCGCGCCCAACCTGGTTTCTCACCATCCCTGTGGGCTGTGTAGGAGGCACCAGGTAAAGGCACTGAGAGAGCAGCTGTTTCCTCCTTGAGTGCCAGTTGTGAGTCTGGGCTCATCTGGTACCTGAGGGTGTATTGCTTTGCAGGGGATTCTCACATTGCCTGCCTCTGGAGGACTGCAAAGTCATGGTCACCTCCAAAGCCACATGTAGTTTCAGACTGGCATTTGGCCTTACAGTGCATCTTTATGAAAATTAAACCCAAGTTCCCTTGTTGGGGTCTAACCTGGAGGGAAGGCTGCTTCCTGACATTGAAGGGGAGGCCAAGACTGTGAAAATAGGGAAGGTGTGGGGAGGGAGAAGGGTAAGGAAGCCTCAGGCCCATGGCATTGCTGCATCTTCTATCTTTCTGCTGCCCACTGTGGCCTTGATTGCCCAGCACGGAGAGGCTCGGTTCCCACATTAGCTCCAGTTTACAGCTATCCTTGGGCTGCAAACCGAGGAGGTGCCGTGTCCTGGGGGGAGGGGGAGGGGGGGATTGTAACACCCTCATCTGCCATCTGGAAACCATGACCTCAGGCTCTGCTCACCCTACTCGCCCATACGTTCCAGAGGGCGGCTGAACGTGCTTGCAAGTGTCATCAGGAAGGAGCTGGAACAGATCTTCTGTCAATTCGATTCAAAGCTGGAGGCAGCTGATGAGGTGAGGCACCTGCATAGAGACACATCCAGCATAGCCCCAACTTACACAAGACCCCTGGCTCCACTTCTTTCTTAGAATGACTTACGGGGGGTTGGTTCTTCTGTACCATTTGTGATTTGCCTTCCTTGTTGGGAGAATTTTAGTGTTGGGACAAAGGTGGCCAGTGGCCCACCTCCTGGTCAGAGGTCCAGCAGCCCCACTCTGAGTGCAGGGGTGTGTCCCCTCTGGCTGAGGGACGTTCTCCTTATGCCCTGGATGGGAATGATCCTGGGAAAAGGCCTCCATATCCTTCTGCGTTGGGTTCCTGGGAGTAGAAATCCCATATAAGGCTGGGCATGGTGGCTCACATCCGTAACCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACGTGAGGTCGAGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAAGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAATTCCCGTATAAAAGGGCTCTTTTGGAGACTGAGCATCTCCTTGGCCAGGGTGCAAATTCACTGTTTACCCCATCAGGGCTCCGGAGATGTGAAGTACCACCTGGGCATGTATCACCGCAGGATCAATCGTGTCACCGACAGGAACATTACCTTGTCCTTGGTGGCCAACCCTTCCCACCTTGAGGCCGCTGACCCCGTGGTGATGGGCAAGACCAAAGCCGAACAGTTTTACTGTGGCGACACTGAAGGGAAAAAGGTAAGGCCCAGAGAGAGGCGTGCAAGGCAGATCGTCAAGGCCCCATGTTCCAGCATGGAGTTCCGCTCACCAACATAACCCAGAGCCCTGGGTGCATCTAGACTTTAAAAAAATATTTAAAGTCGGCCGGGCGCAGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGTTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACTCCATCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCATTGCACTCCAGCCTGGGCCAACAAGAGCGAAACTCTGTCTCAAAGAAAAAAATAAATAAATAAAAAATATATGTATATGTATGTATGTGTGTGTGTGTGTATATATATATATATATATATATATATTTAAAATCAACTTTTAAAGAATAGCAATAGTAAAACAGTCCTGCTTACAGTGTTCCTTTTCCTGAAGTTGTAATTGTCAGAACTATGTGGGAAGTTTGCTTTTGTCTTCACCAAATCTGTTAAGGAGCCAGGTTGCAGTTATTCTGAATGGACAGAGATGTTTTCACTGAAAAGGAGGGGAGTCTGAGAGTCTCTGTAAGGAAAAAGTGTAGGTGAGCCTGAAGGAGAAATTGTAGAACTGAGACTTGTCAGGAGAGTCATGCTTGCTGTGATTAGAGGCGGGAGTTCACGGGCTGGTAGGAGACGGAGGAGGGCACAGACTGCAGGCAGGTGGGGTCCTGCTTCACCATTTCTGGTCATGTGACTGAGTGTTGGGGGTTGACTCGCCTGCCTGCTTGTGTAGAAATAGTCTCAACAGATTGTAACAATTTGCCCTTATTTAACTTCAAGATAGAATCTTGTCTGACAAATTTTATATTTCCTATTAATGATGACCTAAAAACCAAATAATCAGAAAAAAAATCAAATATTTGTAATGTCTTATGTATGGGTTCTGGGAAACATATAAAGAAGGCATCACCACTTTTCTCTCCAGAGCCTCCTGTTC
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Task1_train_11173
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A sequence alteration has been identified in CCM2, LOC129998395 (CCM2 scaffold protein| ATAC-STARR-seq lymphoblastoid silent region 18162) on Chromosome 7. Is it disease-inducing or harmless?
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Pathogenic; Cerebral cavernous malformation 2
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TCCCCAGGCCAACAGCCTCAAATGAGGACATCCCTGGAGGCTTCCCTTTTTTCACTATAAAGCTTACCCACTCCTCTGCCTGACATTGAGTCTCATCCAAATACAAATGATGGTGGCTGACTCCCTTGTTATAGCAAGCTAACAGCCTTTTTGCTTTTCTCATTTTATTGTCTTTATTCCCAGTTATCACCATCTGATCATTAGCCAGTGGACTTTTGCTTGAAGCATGAACCTGTGTATGCAAAGACAGGGCAAAGGTATTCTGATGGATAAGAACAGCCTGAGGAAGTCAGCACATCCAGAGTTAGGCTAAGAGAAGTTTTAGTAGTGTTGTTTACTGTATTATGGAGTGATAAATATGCATTTGTGGAAGACGGTGGAAGACTTTAAATATCAGGCCTTTGTTCTGTGAATGGTGGGAAAATAATGACAACCAGATGCGCTACATCATTTGCGTGTGTAAATGTGGCAAGCTGGATTATTGCAGAAGGCAGATTGAAAGGGTGTTTCCACTATCTCTGCTTTATCTTGCAGAGAATGGAATACTTATGCCTTTGGAGAGGTCTAGAGACCAAGTATTTCTTTTGAATATCAGTATAACATAGGCCCAGTCAGGAGACAGAAACACAGTAAAGAAAAGTTTAATATAAAGAATTATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCAGGTCAGGAGATCCAGACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGCGAGGCAGAGCTTGCAGTGAGCCGAGATCCACGCCACTGGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAACCACCAAAAAAACACAGTTTACATTCTAGCTGTGCTACAAAGTTCTTACCGGCAGATTGGTTTAGTGGCAAAATAGCAGACCTGCTGGTGACTCCAATTTGTAGTGTGCTTTTGGGCGAATCACCTCATTCCCCGGACCTCATCTGGAAAATGTGGAAATTATACCGGATGACTGGTAAGGTTCTACGATTTTATTCTGATAGGGTCTGCACATCCTTGTGGTTGCACTTCTATTTTCCAAATGTGTTTGTCTAAGGCAGGCAGACTTTATAACAGAGAAGTACTAGAAAACGGATTCCCTGTGGCTCAGGGAATAAAGTGGGACACAAGAAAAAAGAAAACCGCACCGCACCCAGACTCTCGGCGGGACGCCCCGCCCCTCAACAGTGGCCGCCTCCTCGCGCCCCTCCTTCGCCATCTGCCGGCCGCGTCCCCTCCCGCCGGCCCCCGTCCCCCGTCCCCCGCCCCCCGTCCCCTTTTCAGAGACCTGAGCTCCGCCTCCCTGGACGCGAGGCAGGCTGGGAAGTCGGCCGCCGTAAAGATGGCGGCAAATTGAAAAAGTTGGAGCTGCTCCCGCGCGCGCTCCCGCGCGCGCTGAGTGGGCGGAGCGAACAGGGGGCTGGACAGGTGCGTTCTCGCGGCCGTGCAGAAGCGAAGTAGGGGTAGGAGCGTTTCCGGCTCTCCTGAAGGACGCGGGGCGGGGTGGGGGTGGTGCAAGGCAGGCGCGTTCTCGGCCGTCCTGAAGGGGCAGGATCTTCAGCCTGTGGGCGGTGCTCTCGCCGTGAGCGGGGCCAACGGGCCGTGTTCTCCCTGAAGGGGCGGGGTCTGATCGCTGCGGGTCGGATTCCCTTGGGCCTGAAAGTGAGGATGAGCGACAACCGTGGGCGGGGCCTGCGCTGGGGAAGGTGGGGCCTGGGCGGGGCGGAGGGGGCTCGGGCCCGGAAGTGCGGGTGTGGGGCGCGGCCGGGGCGGAGACTTCGGGCCCGGCTGGCGGGCGGCGCCGGGAGCGCGGGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCTGGCGGCGGGGCTCCCGGGGCGGGCCGGGCGGGCCGCGGGAGCCGCACGCGGCGATATGGAAGAGGAGGGCAAGAAGGGCAAGAAGGTGAGCGTGCGCGGGGGCGTCCTACTGCTGTGGTCGGCGGGCGGCTGGGTTGAGGGGCCAGGGTGGGGTGGGCGGGTGTTCCTTGGGGCCCGGGGGGGGGGGCAGTGGGCCAGCTGGCGGGGCGGGGCGGGGCAGGGCGAGACCCCGGACAATGGTCAGGTGGGCTTTCGCGGCCGGGCGGGCAGGAAGCGCCGCGCCTTTCCTCTGGCCCGGGCAGCGGCTCGCCCCGACCTCGGCCCCAGACGGCCTTCCCTGCGCGTCGGGACCTGGGGCTGCAGAGGAAGTGGGCCCGGCGAGGGGCCAGAAAGCTGTCCAGGGCTGGAACTGGAGCTAGTGGGCTGTGTGGTTAACGTGGAGACGTTTGCTGCTCACTGGACTTCGTTTTTGGATATCCAGTAAAAGCAAGGGTGGCCTTCACCTTATGGCCAGCTCACTCGTCCACTATCACTCAGACCTAAAACCATTGATTGATTTTAGTGACGCTAGCTACATTTGGCAGTGGGATTTAGGACATAGTTCATAGTCAAACCCCAGTTTATGTAGTTTTACAAAATGTGGCTTTAATTACAGTAAAGGGTTATAGTAGTCGATAAAGAAACATTTTAAGACTGGAAAAACGATGTGGATTGAACTACCATTAAAGTGGAAAATGGATTTTAATAAAATGTATCTTTTTCAAATAAATGCTTTATAATCTTCACGTCTTGGCTATCATTTTCTTTTTGATGTGTGTGTGCGCACTTTTATCCACAAGTTTAAAGCAGACCTCGATAATTCCTAACTATGATTTTACTACCCTGAACTCTGCAGGGAAGTGTCCTTTAATTGACAGCTACTCACCACCTTGTTTGACAGAGTGCCCCATTTAAAAGTCCTGTTTGAAATAGAATGTAGCCAGGTGGCCTTCAGGGAGTCCTGTGGTGCTGGTTCTCTACTTTCTCAACTCATTGTTTCATGTTAGCACCATGCATGTCTAATTTAGGTGCAGTATAATTTGCGGTTATCTACAAAGATGTTTTAAGTCTGGAAAATAGCTCAAGATAGTGATTCAGCCTGCAGGTGTTAGATTAGAGATGCGTGCTGCGCACAGAAGAGGGAGGAGCCAAGCAGTGTAAAAGGAGTTAGCTGGAAAGGAGAGGTGCTAACCCGGTGGCTGCTTAGTAGGGACCATCAGGCCCGAGTGTGGATGATGCTGAGCTTTGCGGAAAGTGAGCCATGTGCTCTGTGGAATGCCGGGATCCAAGAGCGCGCTAAGGACTGATGACCTCATTGTGCACCGCTTACAGGAGTACCTGGCCCATCTACCTGTGTGTGATAGGCAAGGATGGAATTGAGTGATTTTTTTTTCTAGAGCTGTCTATCAGCTTTGGTAGAAACATGAAACACCCAGCAAATAGGGAGAGAGAGAGAGAAGCAGTAAGACTGTTTTTGGGGTACAAGTGAAAAAACAGTAAAATTATCAAGAATTTTCCAGTTGGGTAATGAAAAAATTTAGGCATAAACAGGTTAATTATTAATTTCATTTTCTCACTAGAGGAGATAATCAGTTGTTATGTAGTTGCTTAAGCCAGGGGTTTTGTGTTTTTTCTGTATTCTGCCACTTGTCTTAGCTTGTTTCCTGTAGACAAGCCAGACAAGGAGCTTTGGGGCATGGATTCTTCTCCAGGTCATGACTTAACACTACCTCGTGTACTCTGCCAGTTGCAAGCTGGCAGAACCTTCCTGCTCAGCTACCACATTCAATGTGAGATCACCTCCAGTTTAATAACTTCGGTGGTTAAATCATTCTCATTAAGGTAAATTGCATTGCTCTAAACTTATACACAAATTCAGACATAAGTAGCAGAAGTGCTGACAATAGTTTTATGAAGGTACAGTTTGGACGCTTAAATTCTTCTAAGTTAGCTTCTTCAAAAAATGCAGAATTAGGCTGGGTATGGTAGCTACGCCTGTAATCCAGCACTTTGGGAGGCCAAGGCTCGATCACTTTAGCTCAGGAGTTCGAGACCAGCCTGGGC
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TCCCCAGGCCAACAGCCTCAAATGAGGACATCCCTGGAGGCTTCCCTTTTTTCACTATAAAGCTTACCCACTCCTCTGCCTGACATTGAGTCTCATCCAAATACAAATGATGGTGGCTGACTCCCTTGTTATAGCAAGCTAACAGCCTTTTTGCTTTTCTCATTTTATTGTCTTTATTCCCAGTTATCACCATCTGATCATTAGCCAGTGGACTTTTGCTTGAAGCATGAACCTGTGTATGCAAAGACAGGGCAAAGGTATTCTGATGGATAAGAACAGCCTGAGGAAGTCAGCACATCCAGAGTTAGGCTAAGAGAAGTTTTAGTAGTGTTGTTTACTGTATTATGGAGTGATAAATATGCATTTGTGGAAGACGGTGGAAGACTTTAAATATCAGGCCTTTGTTCTGTGAATGGTGGGAAAATAATGACAACCAGATGCGCTACATCATTTGCGTGTGTAAATGTGGCAAGCTGGATTATTGCAGAAGGCAGATTGAAAGGGTGTTTCCACTATCTCTGCTTTATCTTGCAGAGAATGGAATACTTATGCCTTTGGAGAGGTCTAGAGACCAAGTATTTCTTTTGAATATCAGTATAACATAGGCCCAGTCAGGAGACAGAAACACAGTAAAGAAAAGTTTAATATAAAGAATTATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCAGGTCAGGAGATCCAGACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGCGAGGCAGAGCTTGCAGTGAGCCGAGATCCACGCCACTGGCACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAACCACCAAAAAAACACAGTTTACATTCTAGCTGTGCTACAAAGTTCTTACCGGCAGATTGGTTTAGTGGCAAAATAGCAGACCTGCTGGTGACTCCAATTTGTAGTGTGCTTTTGGGCGAATCACCTCATTCCCCGGACCTCATCTGGAAAATGTGGAAATTATACCGGATGACTGGTAAGGTTCTACGATTTTATTCTGATAGGGTCTGCACATCCTTGTGGTTGCACTTCTATTTTCCAAATGTGTTTGTCTAAGGCAGGCAGACTTTATAACAGAGAAGTACTAGAAAACGGATTCCCTGTGGCTCAGGGAATAAAGTGGGACACAAGAAAAAAGAAAACCGCACCGCACCCAGACTCTCGGCGGGACGCCCCGCCCCTCAACAGTGGCCGCCTCCTCGCGCCCCTCCTTCGCCATCTGCCGGCCGCGTCCCCTCCCGCCGGCCCCCGTCCCCCGTCCCCCGCCCCCCGTCCCCTTTTCAGAGACCTGAGCTCCGCCTCCCTGGACGCGAGGCAGGCTGGGAAGTCGGCCGCCGTAAAGATGGCGGCAAATTGAAAAAGTTGGAGCTGCTCCCGCGCGCGCTCCCGCGCGCGCTGAGTGGGCGGAGCGAACAGGGGGCTGGACAGGTGCGTTCTCGCGGCCGTGCAGAAGCGAAGTAGGGGTAGGAGCGTTTCCGGCTCTCCTGAAGGACGCGGGGCGGGGTGGGGGTGGTGCAAGGCAGGCGCGTTCTCGGCCGTCCTGAAGGGGCAGGATCTTCAGCCTGTGGGCGGTGCTCTCGCCGTGAGCGGGGCCAACGGGCCGTGTTCTCCCTGAAGGGGCGGGGTCTGATCGCTGCGGGTCGGATTCCCTTGGGCCTGAAAGTGAGGATGAGCGACAACCGTGGGCGGGGCCTGCGCTGGGGAAGGTGGGGCCTGGGCGGGGCGGAGGGGGCTCGGGCCCGGAAGTGCGGGTGTGGGGCGCGGCCGGGGCGGAGACTTCGGGCCCGGCTGGCGGGCGGCGCCGGGAGCGCGGGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCTGGCGGCGGGGCTCCCGGGGCGGGCCGGGCGGGCCGCGGGAGCCGCACGCGGCGATGTGGAAGAGGAGGGCAAGAAGGGCAAGAAGGTGAGCGTGCGCGGGGGCGTCCTACTGCTGTGGTCGGCGGGCGGCTGGGTTGAGGGGCCAGGGTGGGGTGGGCGGGTGTTCCTTGGGGCCCGGGGGGGGGGGCAGTGGGCCAGCTGGCGGGGCGGGGCGGGGCAGGGCGAGACCCCGGACAATGGTCAGGTGGGCTTTCGCGGCCGGGCGGGCAGGAAGCGCCGCGCCTTTCCTCTGGCCCGGGCAGCGGCTCGCCCCGACCTCGGCCCCAGACGGCCTTCCCTGCGCGTCGGGACCTGGGGCTGCAGAGGAAGTGGGCCCGGCGAGGGGCCAGAAAGCTGTCCAGGGCTGGAACTGGAGCTAGTGGGCTGTGTGGTTAACGTGGAGACGTTTGCTGCTCACTGGACTTCGTTTTTGGATATCCAGTAAAAGCAAGGGTGGCCTTCACCTTATGGCCAGCTCACTCGTCCACTATCACTCAGACCTAAAACCATTGATTGATTTTAGTGACGCTAGCTACATTTGGCAGTGGGATTTAGGACATAGTTCATAGTCAAACCCCAGTTTATGTAGTTTTACAAAATGTGGCTTTAATTACAGTAAAGGGTTATAGTAGTCGATAAAGAAACATTTTAAGACTGGAAAAACGATGTGGATTGAACTACCATTAAAGTGGAAAATGGATTTTAATAAAATGTATCTTTTTCAAATAAATGCTTTATAATCTTCACGTCTTGGCTATCATTTTCTTTTTGATGTGTGTGTGCGCACTTTTATCCACAAGTTTAAAGCAGACCTCGATAATTCCTAACTATGATTTTACTACCCTGAACTCTGCAGGGAAGTGTCCTTTAATTGACAGCTACTCACCACCTTGTTTGACAGAGTGCCCCATTTAAAAGTCCTGTTTGAAATAGAATGTAGCCAGGTGGCCTTCAGGGAGTCCTGTGGTGCTGGTTCTCTACTTTCTCAACTCATTGTTTCATGTTAGCACCATGCATGTCTAATTTAGGTGCAGTATAATTTGCGGTTATCTACAAAGATGTTTTAAGTCTGGAAAATAGCTCAAGATAGTGATTCAGCCTGCAGGTGTTAGATTAGAGATGCGTGCTGCGCACAGAAGAGGGAGGAGCCAAGCAGTGTAAAAGGAGTTAGCTGGAAAGGAGAGGTGCTAACCCGGTGGCTGCTTAGTAGGGACCATCAGGCCCGAGTGTGGATGATGCTGAGCTTTGCGGAAAGTGAGCCATGTGCTCTGTGGAATGCCGGGATCCAAGAGCGCGCTAAGGACTGATGACCTCATTGTGCACCGCTTACAGGAGTACCTGGCCCATCTACCTGTGTGTGATAGGCAAGGATGGAATTGAGTGATTTTTTTTTCTAGAGCTGTCTATCAGCTTTGGTAGAAACATGAAACACCCAGCAAATAGGGAGAGAGAGAGAGAAGCAGTAAGACTGTTTTTGGGGTACAAGTGAAAAAACAGTAAAATTATCAAGAATTTTCCAGTTGGGTAATGAAAAAATTTAGGCATAAACAGGTTAATTATTAATTTCATTTTCTCACTAGAGGAGATAATCAGTTGTTATGTAGTTGCTTAAGCCAGGGGTTTTGTGTTTTTTCTGTATTCTGCCACTTGTCTTAGCTTGTTTCCTGTAGACAAGCCAGACAAGGAGCTTTGGGGCATGGATTCTTCTCCAGGTCATGACTTAACACTACCTCGTGTACTCTGCCAGTTGCAAGCTGGCAGAACCTTCCTGCTCAGCTACCACATTCAATGTGAGATCACCTCCAGTTTAATAACTTCGGTGGTTAAATCATTCTCATTAAGGTAAATTGCATTGCTCTAAACTTATACACAAATTCAGACATAAGTAGCAGAAGTGCTGACAATAGTTTTATGAAGGTACAGTTTGGACGCTTAAATTCTTCTAAGTTAGCTTCTTCAAAAAATGCAGAATTAGGCTGGGTATGGTAGCTACGCCTGTAATCCAGCACTTTGGGAGGCCAAGGCTCGATCACTTTAGCTCAGGAGTTCGAGACCAGCCTGGGC
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Task1_train_11174
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A variant was discovered on Chromosome 7, affecting CCM2 (CCM2 scaffold protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Cerebral cavernous malformation 2
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GTTTACTTGGTGCCTGCTATGTGCAAGCAAGTCTCTGTGCCTCTTTGGACCAAAAGTACGCTGGTATTTGGGATAGCACAGGAGTGGGGAAGTTGGGGGCCAGGTCTAGCTGCAATAGGGTCCATGTGGCAGGAGCTGCTTGGAGGGTGATGACTTGAGTTGGTGCCAGATGGGGCAGGGTCACCCGTGCACCCGTGGTAGCACTTCCTGGATGATATAGGAGAGGCACACAACTCGCTGCCCGCATCCTTAGGCTGCCCACCCTGCTTCCTTGAGAACTACCACAGGCACACACCAGGGAGCCAACATTTAAAAATGTTTAAAAGGTAGAGATTTCTTACCAAACTCATACCAAAAAAAGAAAAAAAGTAAAGGGAAACCAGTAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGTAGTGCCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATAGTATTTCACCGTGTTAGCCAGGATGATCTTGATCTCCTGACCTTGTGATCCGCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGCCTTTTTTTTTTTTTGAGACAAGTTTGGTGCTTGTTGCCCAGGCTAGAGTGCAATGGTGTGGTCTTGGTTCACTGCAATCTCCGCCCCCCGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAATGTGCTGGGATTACAGCCATGAGCCACTGCGCCTGGCCAATTATTTTCAATAATATATTTTATTTACCCCTCCGTACCCAAAACATTATTACATCAGTATATAATCAATATAAAAATCGTTGAGCTACATAGCATTCTTTCTTTGCCTACCTCTGAAACCCTGTGTATAGTTTGCACTCACACATTTCAATGTGGGCTCATCACATTTTGCATACTCAGTAGTCCTGTGGCCAGTGGCTGCCATAGGGACAGAGCAGCCCCAGGAGTCTCACTGTGGGGTTTGAGGTACAGTTTCTTATGGAGCCCTTGTCTCTGTGCATGCGCTAACTTTGCATGTGGCCTGGGACGGCCTTCTTCTCCCTCCTGAGGCTGGCCTGCCCTCTGACACCCTGGCACTAGTGGCACTTCTAGGTTTTGTTTTCAGTCTTGAAGTCCTCCCAGGGTGGTCCGAACTGATGGTGAGAGCCCTGCTTCCTGGGGATTGGCCTCACTTCTGCCATCAGGAAAACCACTGAGTTACTCCATGTATTTCAGGAGAACCTCATTTGTCTAGGGAGGCAATGGGTAGGATGTTAGAAACAAGGGCACTGGGGTCTGACCGTCTAGATTGCCATGTGGACAGTGCAACTCACACGCCCTCAGGCCAGGCCTTTCACTTTCCCATGCCTCAGTTTACCCATCTGTAAGAAGGGAACTCCCCAGAACACATGGAAACCTCCTGGAGGTGACTGTTCTCAGGGTTGTATATGTGGTCTGTTGTATATGAACTTGAAGCGTGTGAAACTGCAGGATGACATGCAGCTCTGGTGCCCTTGGAGCTCAGGGGTCGCGTGTTCCCACCCTTATTTAGAGAAGCGAAGTGTGTCTGGTGCAGGCCCTTCACCTGAGTCGTTCTGTGGGTGCCTGAGCCAGGTAAAGGTCCTCTCAGCCTGTTTCCATGGCGGCCTCAGCTGTTTCCTCAAGTGCCCCCATGCCTGCCCTTCCACTGTGCTAAACTGAGATGGTGTTGACTTCTCAGCCCAGGACCCAGGGATCTCCCCCAGCCAGAGTCTGTGTGCGGAAAGTTCCAGAGGCCTCAGTGCAGGCTCCCTGTCGGAGAGTGCAGTTGGGCCCGTGGAGGCATGCTGCCTGGTCATCCTGGCTGCAGAGAGCAAGGTGAGACTTTCTCGCCCCACTTACTCAGAACTGGCTCCTCCCAGACCCTGCTCATGGCCAGCCCCACCCTGGCCACACCCAGCACAGTGCTGGGCACTGCTGGGTGCCCCAGCTACTTCCTCTGCCATTGCCTGTCCCTGCCTCACCCTAGTCTCCACCCAGCCCCACCTCTCTCTGCTCAACCCTGCCCCAGGCATTGCCCCCATCCTGGCCCTGCCCACAGCTCCTCTGCGCATGACTGCATCCCAGGTCCTGCCCCAGGCCCAGGCTCCCCACCGGTTCCCACCCCTGTGCCTTCTGACCCTCCTACCTCCAACCCCCAGCAACTTCTCTGAGACCACCTGGCCACTGAGCTTTTTGCTTATCATTCTTCAAGGTGCCCCCACGCTGATGGGCGGGCAGCGGCGGTCACCTGTGCATCCTAGACCTGCCTGGTGTTAAGGACTGTGCTTGCAGATTCCTCACAACCTGGAAGAGCCAAGGGCTGGGCCCTTGTAGGCTAGGATTTGGGGCCCCCTCAGCCACCCAATAGCTGTGGGGCCTTGGCAGTCACTTAACACCTTTGTTTAATTTCCATATCTGTAAAATGGATGCTAGTGACCACCCACCTTAAATATCCTCTAATGAGCATTTCTCAGTGTTGGTGCTACTGTCATTTTTAGCCGGATAATTTTCCATTGTGGGAGGCTGCCCTGTGCACTGTAGGGTGTTGAGCAGCATCCCAGCTTCTCCCCTTGTGACAGCTGAAAATGTCTCCAGATATTGCTACATGTCCCCTGGGAGGGGTACAAAAATTGCCCCAGTTGAGAGCCTCTGCTTTAGACAGCACACTGTTATAAAACTGTTTTATAGCTGTTAGAAATGCCTCCAGGTGGGCTGTGATACTGATGGTATCTCCTCTCACCTCTTTCCTGGGCTGGGATAGGGTTGTGAGGGTGTTGATAGGTCAGGTTAATGGAAAGAAGACGTTGGACTGGCAGCTAACACTTGTGCCCTGCACAGTCCCCTCACACTTGCAATACCACCCCTGGGCCACATGGCAGTCCTAGATAGAGTCCTGGGGCAGTTGGCTGGGTCTCTCTTTTGACACCCCTTTGGGTCAGTGAAAGGCAGAGGGACACATTCTGGTATCCACTCTTCATTCATGTTTATTGAGCATCTGGGCTGCCCCAGGTATCCTGGAAGCCGCCTGGGAAGGCGCAGTCTCCAGCCAGACTGACCGAGCAGCTGCTGTCCCCCACTGCAGGTCGCTGCGGAGGAGCTTTGCTGTCTGCTAGGCCAGGTCTTCCAGGTTGTTTACACGGAGTCCACCATCGACTTTCTGGACAGAGCGATATTTGATGGGGCCTCTACCCCGACCCACCACCTGTCCCTGCACAGCGGTATGTTGAGTGAGAGTGGGCAGCGGGTGGGAGCAGGGACAGGAGGGGCTACTGCAGTGGCCCCCAGCTCCCCATGAGTTACTCCTGGAATAGCGCAGTTACTGCCGTGACATGGTGGCCTTTTGTTTCCAGACTTTGCTGTTCACATTAGCCCATAGGGTTTCATGAAGGCAGAAGTGTCACCTGTCCTTGAGAGAGTTGCACCAGGTCAGCGCTATGGCTTCCTGGAATAAATTTGGGGTCTGTGAACACTTTTTTGGAACCACTTGTGGCTAAAGTCACTTCACTTAACTCGGAACAAAGAGCTTGGAGAAGGCTCCTAGCACTGGGGCCTGTGATGGAATTGGGGAGGCTGAGAGTGGGTCTGGGGAGCCTCCTTTTCAGTATGCCCAGACTATGGCTGCTCTTAATGTGAAACTCCTTCCAGGACCATGGCCAGACCCATGGGAAGCTGCTCAGGCTGCCCTGGGAGGCCAGCTGGCAGTGGTGGAGCAGTGGCAGATGGGGAAGAATGGAAGGTACCCCAGAGCTGTCTCTTCCTGCATGGCCCACACAGCATTTTCAGGAGTCTGTTAGTCCATTGAAAACACTTCATCAGCAAGCTCACTTGAGTTAAGTCTTCAAAAACATCATCTGTTTTTCAGATGTA
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GTTTACTTGGTGCCTGCTATGTGCAAGCAAGTCTCTGTGCCTCTTTGGACCAAAAGTACGCTGGTATTTGGGATAGCACAGGAGTGGGGAAGTTGGGGGCCAGGTCTAGCTGCAATAGGGTCCATGTGGCAGGAGCTGCTTGGAGGGTGATGACTTGAGTTGGTGCCAGATGGGGCAGGGTCACCCGTGCACCCGTGGTAGCACTTCCTGGATGATATAGGAGAGGCACACAACTCGCTGCCCGCATCCTTAGGCTGCCCACCCTGCTTCCTTGAGAACTACCACAGGCACACACCAGGGAGCCAACATTTAAAAATGTTTAAAAGGTAGAGATTTCTTACCAAACTCATACCAAAAAAAGAAAAAAAGTAAAGGGAAACCAGTAAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGTAGTGCCGTGATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATAGTATTTCACCGTGTTAGCCAGGATGATCTTGATCTCCTGACCTTGTGATCCGCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGCCTTTTTTTTTTTTTGAGACAAGTTTGGTGCTTGTTGCCCAGGCTAGAGTGCAATGGTGTGGTCTTGGTTCACTGCAATCTCCGCCCCCCGAGTAGCTGGGATTACAGGCATGAGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAATGTGCTGGGATTACAGCCATGAGCCACTGCGCCTGGCCAATTATTTTCAATAATATATTTTATTTACCCCTCCGTACCCAAAACATTATTACATCAGTATATAATCAATATAAAAATCGTTGAGCTACATAGCATTCTTTCTTTGCCTACCTCTGAAACCCTGTGTATAGTTTGCACTCACACATTTCAATGTGGGCTCATCACATTTTGCATACTCAGTAGTCCTGTGGCCAGTGGCTGCCATAGGGACAGAGCAGCCCCAGGAGTCTCACTGTGGGGTTTGAGGTACAGTTTCTTATGGAGCCCTTGTCTCTGTGCATGCGCTAACTTTGCATGTGGCCTGGGACGGCCTTCTTCTCCCTCCTGAGGCTGGCCTGCCCTCTGACACCCTGGCACTAGTGGCACTTCTAGGTTTTGTTTTCAGTCTTGAAGTCCTCCCAGGGTGGTCCGAACTGATGGTGAGAGCCCTGCTTCCTGGGGATTGGCCTCACTTCTGCCATCAGGAAAACCACTGAGTTACTCCATGTATTTCAGGAGAACCTCATTTGTCTAGGGAGGCAATGGGTAGGATGTTAGAAACAAGGGCACTGGGGTCTGACCGTCTAGATTGCCATGTGGACAGTGCAACTCACACGCCCTCAGGCCAGGCCTTTCACTTTCCCATGCCTCAGTTTACCCATCTGTAAGAAGGGAACTCCCCAGAACACATGGAAACCTCCTGGAGGTGACTGTTCTCAGGGTTGTATATGTGGTCTGTTGTATATGAACTTGAAGCGTGTGAAACTGCAGGATGACATGCAGCTCTGGTGCCCTTGGAGCTCAGGGGTCGCGTGTTCCCACCCTTATTTAGAGAAGCGAAGTGTGTCTGGTGCAGGCCCTTCACCTGAGTCGTTCTGTGGGTGCCTGAGCCAGGTAAAGGTCCTCTCAGCCTGTTTCCATGGCGGCCTCAGCTGTTTCCTCAAGTGCCCCCATGCCTGCCCTTCCACTGTGCTAAACTGAGATGGTGTTGACTTCTCAGCCCAGGACCCAGGGATCTCCCCCAGCCAGAGTCTGTGTGCGGAAAGTTCCAGAGGCCTCAGTGCAGGCTCCCTGTCGGAGAGTGCAGTTGGGCCCGTGGAGGCATGCTGCCTGGTCATCCGGGCTGCAGAGAGCAAGGTGAGACTTTCTCGCCCCACTTACTCAGAACTGGCTCCTCCCAGACCCTGCTCATGGCCAGCCCCACCCTGGCCACACCCAGCACAGTGCTGGGCACTGCTGGGTGCCCCAGCTACTTCCTCTGCCATTGCCTGTCCCTGCCTCACCCTAGTCTCCACCCAGCCCCACCTCTCTCTGCTCAACCCTGCCCCAGGCATTGCCCCCATCCTGGCCCTGCCCACAGCTCCTCTGCGCATGACTGCATCCCAGGTCCTGCCCCAGGCCCAGGCTCCCCACCGGTTCCCACCCCTGTGCCTTCTGACCCTCCTACCTCCAACCCCCAGCAACTTCTCTGAGACCACCTGGCCACTGAGCTTTTTGCTTATCATTCTTCAAGGTGCCCCCACGCTGATGGGCGGGCAGCGGCGGTCACCTGTGCATCCTAGACCTGCCTGGTGTTAAGGACTGTGCTTGCAGATTCCTCACAACCTGGAAGAGCCAAGGGCTGGGCCCTTGTAGGCTAGGATTTGGGGCCCCCTCAGCCACCCAATAGCTGTGGGGCCTTGGCAGTCACTTAACACCTTTGTTTAATTTCCATATCTGTAAAATGGATGCTAGTGACCACCCACCTTAAATATCCTCTAATGAGCATTTCTCAGTGTTGGTGCTACTGTCATTTTTAGCCGGATAATTTTCCATTGTGGGAGGCTGCCCTGTGCACTGTAGGGTGTTGAGCAGCATCCCAGCTTCTCCCCTTGTGACAGCTGAAAATGTCTCCAGATATTGCTACATGTCCCCTGGGAGGGGTACAAAAATTGCCCCAGTTGAGAGCCTCTGCTTTAGACAGCACACTGTTATAAAACTGTTTTATAGCTGTTAGAAATGCCTCCAGGTGGGCTGTGATACTGATGGTATCTCCTCTCACCTCTTTCCTGGGCTGGGATAGGGTTGTGAGGGTGTTGATAGGTCAGGTTAATGGAAAGAAGACGTTGGACTGGCAGCTAACACTTGTGCCCTGCACAGTCCCCTCACACTTGCAATACCACCCCTGGGCCACATGGCAGTCCTAGATAGAGTCCTGGGGCAGTTGGCTGGGTCTCTCTTTTGACACCCCTTTGGGTCAGTGAAAGGCAGAGGGACACATTCTGGTATCCACTCTTCATTCATGTTTATTGAGCATCTGGGCTGCCCCAGGTATCCTGGAAGCCGCCTGGGAAGGCGCAGTCTCCAGCCAGACTGACCGAGCAGCTGCTGTCCCCCACTGCAGGTCGCTGCGGAGGAGCTTTGCTGTCTGCTAGGCCAGGTCTTCCAGGTTGTTTACACGGAGTCCACCATCGACTTTCTGGACAGAGCGATATTTGATGGGGCCTCTACCCCGACCCACCACCTGTCCCTGCACAGCGGTATGTTGAGTGAGAGTGGGCAGCGGGTGGGAGCAGGGACAGGAGGGGCTACTGCAGTGGCCCCCAGCTCCCCATGAGTTACTCCTGGAATAGCGCAGTTACTGCCGTGACATGGTGGCCTTTTGTTTCCAGACTTTGCTGTTCACATTAGCCCATAGGGTTTCATGAAGGCAGAAGTGTCACCTGTCCTTGAGAGAGTTGCACCAGGTCAGCGCTATGGCTTCCTGGAATAAATTTGGGGTCTGTGAACACTTTTTTGGAACCACTTGTGGCTAAAGTCACTTCACTTAACTCGGAACAAAGAGCTTGGAGAAGGCTCCTAGCACTGGGGCCTGTGATGGAATTGGGGAGGCTGAGAGTGGGTCTGGGGAGCCTCCTTTTCAGTATGCCCAGACTATGGCTGCTCTTAATGTGAAACTCCTTCCAGGACCATGGCCAGACCCATGGGAAGCTGCTCAGGCTGCCCTGGGAGGCCAGCTGGCAGTGGTGGAGCAGTGGCAGATGGGGAAGAATGGAAGGTACCCCAGAGCTGTCTCTTCCTGCATGGCCCACACAGCATTTTCAGGAGTCTGTTAGTCCATTGAAAACACTTCATCAGCAAGCTCACTTGAGTTAAGTCTTCAAAAACATCATCTGTTTTTCAGATGTA
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Task1_train_11175
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A genomic change on Chromosome 7 affects IKZF1 (IKAROS family zinc finger 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Inherited Immunodeficiency Diseases
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TAGGGTCATACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAACCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACA
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TAGGGTCATACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAGCCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACA
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Task1_train_11176
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A mutation in IKZF1 (IKAROS family zinc finger 1), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Immunodeficiency
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TAGGGTCATACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAACCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACA
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TAGGGTCATACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAGCCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACA
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Task1_train_11177
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A variant was discovered on Chromosome 7, affecting IKZF1 (IKAROS family zinc finger 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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ACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAACCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACAAAGGTGGTA
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ACCACAAACACTGTTGTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAACCTGCTCCAGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACAAAGGTGGTA
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Task1_train_11178
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A mutation found in IKZF1 (IKAROS family zinc finger 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Inherited Immunodeficiency Diseases
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GTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAACCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACAAAGGTGGTACCTGGGCCTGATAAG
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GTGTCACCAGGATGTTGTCACATGCTTATTGTGAGCATTTTTGTGACATGAGCTTTCTCCTGAGAGGCCACCCTGTCCAAATGAGAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAACCTGCTCCGGCACATCAAGCTGCGTTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACAAAGGTGGTACCTGGGCCTGATAAG
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Task1_train_11179
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A mutation on Chromosome 7 affecting IKZF1 (IKAROS family zinc finger 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Pancytopenia due to IKZF1 mutations
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GAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAACCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCACTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACAAAGGTGGTACCTGGGCCTGATAAGCAAGGCCCATGGAGGCCTCAGCTAAGAGAACTGTGCAGTCTGTCTGCCATGCTAACCAGTGGTCTAGGAAGAAGCTTCACATCT
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GAGCTGTAGTTGGAGGCACATCCGTCTCATGCTGCCTGGGTCTCCCTGCACCAGCTCACTCTACTTTTCCTTTTTATCCACTTGGAGTTAAATGCACACATTTATGCACAAGTGCACAGAAGGCCCAGAACTGTTCCTAATAGATAATTAAATGATCTCTCTCCAGTGGAAACTCTCCTGGGCTACCTGGCTGCTAGCTGTTTTAGCCTCTTCATCCAGTATTGATTTACATGCATCGGTTTGTAACTCAGACAGTATAGTTAGTTAGTTTGTTTCACCATCACCTTCCAACCTGCTTACGTTTAAACTCCTTCTCTCTGCTTAGCTAATACAGATTTCTGTAAGGATTTGGAGAAATACCAGATACCTCCTGGTTAGTATCAGGACCTCTCCATTGGCCTATAATTGAACATCACTGTAAATTAGTTTCAGCTTTTATAGTAATGCATCTAACCCGCCAGCTTAAAAAAAAAGTGATGATAATCATGAAATTCAAGTGTCAATATAGACTTTTAAATCTGGTGTGGATGTTAATAGTGCCAGATATGCTTCTGTGTAATCATTTTTGAGAAGTGCTGTCTTCTTTACCATAATCACATTAATCAATCGGGAAATGGTTAAATAGACATTTTAATACATTGTTTTTTCCTGAGAAAAAAAGTGACTCCAGGAAATATGTTGTTACAATATCTCAACACCAGGAATTGTGGTCACATAGCATTCTTCTTCTAAATAAAGCATTTGTTTTACAAAAGAGTTTCATGTTTACTTAAACGTGACAAATGTATCACTCTTCGAAGTGAGAGTTAAATGAAATGTTCCCTGATTTAGATTCCAAGACCTGTGACTACTCAGTAGGACAATAGCATATTTCTTTTACTCAGATACCTGTTTATCCCTTTGTCAGCTCCAGAATGGAGACACAGGTGCTGCCACACAGAGGAGAGGGTCAGGTGTTTTCTTAGTCACAAATGCAGCAGTCTCACCCCTGAAAGAATTCCTTCATAACAACTAAATTGCACCTCTTAGAATACCTGTACTTAAAATATAATTTGTCTTCTATGGATATAGACAAATAATAGCTTAAATGTTTTAGGATTTGTAAAGAAAGAAAAAGCTAGAAATCTCAATGCAACTCTGACTTGTATGTCCTGCCATAGGAAGGTTTGGGACTTTTCTTTGGAAGATGGGAGGCTTCCTTCACAGTTTCTTAACTTCTCATTTTATTCAATCTTTCTCCATCTCTCTCTCTCTTTCTCTCATCCTCACGCTCTCTGTCTGTCTCTCTCCTGATTTGTCTGCTTAGGGACAGACAGGTAATGGAGAAGAAATTGAAAGGGAAAATACAGGGAAAATGTAAATGAAAAGAAGTTATTATAACTGTTATAATGAAGTGCCTTTCATTTAAATATAAGAATGTAACGCTGAAATGAACTTGTGATCCTGAAATGCATTTTTAATGAGTTTCCTTTTTATTTTGCTGCTTCAGTGGCATATTTTAAAGACCCTTTGAAAAAAGCCACATTAAAAAACCCCACCAAATGCCACAACACGCAAAATTGGATATTGGTTTATTCCAAAACTGCTGATCAGGAAGAGTGGCTCTTCATCACAAAATGTTGCAGTCACTTTATTTAAATGAGTTTGAATTTGCATTGTGATGTGCCATTCTGATTTAGGGAAAAAAAATTAGATTTTCAGATCAAATTGACCCAGCCAGTGAAGCGTTAAGGAGCTGGCAGGTTTAGTCTGAAAGCCTCATGTTCTATCAAACCTGCAGCCGGTGGAAGTCACCAGGCCCCCGTGGGAAACAACTTTCTCGTAGCATCGTCCTCATGTCCCCACGCTGAGTTTAGTTCTCACCAGCTCTCCTCTCTCCGTCCCAGGAGAACGGCCCTTCCAGTGCAATCAGTGCGGGGCCTCATTCACCCAGAAGGGCAACCTGCTCCGGCACATCAAGCTGCATTCCGGGGAGAAGCCCTTCAAATGCCACCTCTGCAACTACGCCTGCCGCCGGAGGGACGCCCTCACTGGCCACCTGAGGACGCGCTCCGGTAGGTCCCCTGGATGCAGTCCGGGGCTGTCTGGGTGTCCCGGGATTCCTCCACTCTGCCCGCCTGGGTCCCGGATTGTGTCCTTGCTGGCTAACCCTGAGTCCCTCCCAGCTCGCAGTCCTGCATCGGGTGTGAGCTGTTGCTTCTTTGACATTGCCCCATCCCCCCTCCCCATATTCTCCTTTTCCCACTGCACCAGGGAGATTGGGCGCAGGACCCCCATGCACATACACACACAGAAGTCTCACCTTAGGTAGCATGTTTCAGAACAGGCCTCCTCATCCCGTTTGTCAGGCTGGTATGGTTTCCCTAAAGGATTTTGCGGGAAATGTTTTCACCAAGTGTACTGCTAAGACCCAAAACGTTTTCAAGTACAATTCTTTCTGTTGTTAAGTCCCGCTTTGGAGTGTTTTACACAGGTGTAATGGATAGCTTTTTTGCAGAGCTGGTAGAGAAGGGTGATTTAGGGCGCACCCACCCAGACTGAGCCCCGTGTGGCTCTCACACCAAAAACCAGCCAAGGCCACAGTTACAGAGGCCAGTCTGGGGCTGTTACCAGATTTTAGACAGCAGCCTTTCTCTTTGAATTAGACAGTTAAAGTACAACCCACATAATCTGGAGTCTTGACAAGATCATCATAGGCATAAACGCTCTATCATTCTCAAAACAGTCTCAGCCTGCAAAGTTCAAATCCACTAAAGTTTGGTTAGATCCTCTGCCTCCTGAGAAATGGTCCTGGGTGTTTCATTATCCAGCAGTCCCATAATTCTACAGGGCAGAGGAAGAGAGGGCTCTTGGCCGGCCTGTCATGGATCATGTTTGCCTACAGTGTGGTCTATACAACATGACATGGCACAGGTCTCCTTCATACCGTCCAGTTGGGGATATTTGCTGTAGCATACTGCATGAGACTTCGGAGGCGAAAGGTTGATGGCTTTTGTCCTTCCCCTCAAGGAGCTTCCTGCCCCAGCCAGCCACCAGCCAGGGCCCTTCTCCAAGCAGCAGCCTCTCTAAGCCGGTGCCCTGGGGGATGGCAATGCCTCAGACCAGCTACTCCTCACCCACCCTGGGTAGCAGGATAAGGAGGAGCCTCCCTCAGGGAGGCAGACGTGTGTTCTTTGTGAAATATCTGCAGCGGCCCAGGCCATCTCTTCCCAAATGTGATGCGTGTATTTGATGGTTGAGGGTTTTAGAGGCTGCTCATTGTGTCCATCTCTTTATCACACATTTACTGAGCACCCCTGGGTGCCCATTCTGCACAGAAGACCTCAGGTGCACACAAGGAAAGCACCAATGTGTTACAGGAGGCATGACAGAGTGTCTGAGGGGACAGTGGGAGCATAAGGAAGGGGACAGTGGGTCCTGGGGTGGAAAGTCAGGAGAGACTTCCCATAGAAGGGAGGGGCTTCTGAAGTACATGCTGGAAGGCGAGTGTCTGAGGTTTGCTTTAGAGACATTCTAAACTAGTGTGTGAGTCGGCAGTAATCCCAGAGAGGGGTGCGGCACCCATGTTGGCAAGAACTCGGTCTCACTCCTGGCAGGTGGTCCCTGCAGTAGTTCACCCAGTTGGCTGGAGACAAAAAGGAGAGGAGTCACAGGGGCTGGTGCATCACCTCCTCTCCATCCTGACCTCCTTCCTGGCGGTGCACATGGAGAAGGATCCCCACATGCTCGCCATCAGAAAATTGTCATGATTTGGGTGATTTGACTTCCTAAAAACTTCCAAGAAAGGAGCTATACCAAGCTGAGGAGTTGCTTGCCCGAGAGGGCGGGCAGATCAGCAGGGGGGCCATGGAGTGGGACACTTGCCTTGTTACAGAGGGACAGGGAGAACAGGTGGTTCCCCTGAGATAGGAAGACAGTAGCATGACGGTGAGCATCTTTAAATGTTCACATGGGTGATGAGCATGTATGGTGGTCCCACCTGGAGACAAAGGTGGTACCTGGGCCTGATAAGCAAGGCCCATGGAGGCCTCAGCTAAGAGAACTGTGCAGTCTGTCTGCCATGCTAACCAGTGGTCTAGGAAGAAGCTTCACATCT
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Task1_train_11180
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Here’s a variant in IKZF1 (IKAROS family zinc finger 1) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Pancytopenia due to IKZF1 mutations
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TGACTCCCCTGTCCCATGAAAAACCAGGATCAACATCACAGCTTTCTCTAGCAACTGGTGGTGGCCTGAGGTCTTATGAACTAGCATGTTAGCAGGGATAGAGTTAGGGAATTTGTCCGATGCTGACAGCAAGAGGGTGCTGGGGGAGCTGGAGGGGTGGAGAAGTGATCTCCCTTCCTGCCTCATGGCTTCCTTTGGAAGTTGCAAGCTTAGAATTTCTTTCCCAAAGAATATTGGACTATGCTTCAAGAGACACTTGAGTTCAGTTGCTTACAGTGAACATACTTCTTATGTTCCAGAGTTAAACTCAATCATATTTTCAGAAAAATAGATATTCAGACATCATGTCATATTTACAGGAAGCTATTTGATCATGGAATTTACTGAAGTGACAGCTTTTTCAGGAAAGGGTATCGAGTGGTTATCTATATCCTATTAATTTCTAAAAGCAATGCTCAATAAAATGTGCAATTTTAGGCAATATTCTGTGTTTCAACATTATTTCCTTATGTTGGGGGTACATCACTTTATATAGATAAAGAAAGATCCTTTTCATTCTCTATTAAATGGTCGAGAAGTCAAATTTTGGCTTTCATGTTGGTCTTCTTACTGTAGCTTCTGTTCACCTAAGAAAGAGATTTAACCAACATAAGCTTTGGCTAAACCATTGTACCAAACATTTCTATTTGGATGCTCTTAACTTTTATACAATACTTTGAAATGTGTTCAATAAAACAACATGAGAAAGAAGTAGAAGATTCTGCTATTAGGTTGGAAATTGATATTCCTTACATAAGTGATTAAAGATACTTTATTCAGTTTATCCCTTAAAATGGTATCTACTGAAGTCCTTAAACTTAGGCATGATATTAATTCCTGGCTAGTCTTTCTTTTTCCTAAAATATCACTCAATAAAATCCAAGAAGGACTAAAACTCATTATATAGAACTGCACTGCCCAATACAGCAGCCACTAGCCACATGCAGTATTTTTAATTATAATAAGTTAAAATTAAACAAAATTAAAACTTCAGCCCTCAGTGGCACTAGCCACACTTTTTGTGTCCAACAGCTACATATGGCTGGTGGCTGCCATATTGGACAGCACTAATAGAGAGCATTTCTATCATCATAGGAAGTTCTGTTGAACAAGGCTGATCTGGAAGCTACACCATCCTAAAGCTCTTTGGCAAGAAAGCAGAGCTTTTCCATAAGCTCAGTTTATGAACAATATATTTTGTATTTTCTATGTATATGTATATGAGAATACGTATACATAGAAATATATGAAAATACATATACATATAAATATACATATACATAAAATAGAAATACATATACATAGAAAATACAAAATATTTTGTATTACATATACATATGCATGGAAATACAAAATATTTTGTATTATATAATGCAAATGTAAGATATATTTATATTATGTAAGAAAATACATTTGTGCAATAAAACGCTTATTTCATTCAAGCATATTTGTCCAGCATGGTTTCTTAGAGACTGAAGTTACCCAGTTTAGCACCTGGAACTGAATTCACTCTGGCTGTGTTAGATGTAGCACCAGCGTCATGACAGATCCAGCCCACAGCATAGACTGAGGCCTACTCTGGAGGCAAATCTGCAGACAATGTGGCCAACACATGGGCCTTCCTCACATCTCTGTCCAGTCGCTGGCATCCACGTTATAACACAGCAGTGGCTCGTTTTCTCCAGTTAAAGGCTAGGCTTCCGTGATTGAAGCAGGAGAGAATTTGGTAGTCAGTAAAGTAGACAAACTAAGACAAAACAAGAGTCGCATGAGTTCTTGGTACAATTAAAGAAACCCTTGGCCACCAACGTTTTTAAATTCAGGAATTTCACCAAGTCCGTAACAGTTTTAGCTCTCAAGGGTAGAATTTTTTTTTTAACTTTTTTGGTAATAATTGTATTGCATGCATTCCCCTTACACAGAAGGCTGGCATTTAATTGGGGTCTTGAACTCAATTGTGTTTTCTGCAGTTGGTAAACCTCACAAATGTGGATATTGTGGCCGAAGCTATAAACAGCGAAGCTCTTTAGAGGAACATAAAGAGCGCTGCCACAACTACTTGGAAAGCATGGGCCTTCCGGGCACACTGTACCCAGGTAAGCGCTGCTGCTCGGAGGCCAGCCTGGTGGGCTCTCCCCCCAGCACGGTGGGGAAGGAGGGCGCTCTGCATGCAGCCTTAGGAGCAGAGCCTTGGGCCTGCTTCCTGCCGGGGCTAGGAGGGAGGGAAGTTTTTGGCCAATAGCATCAGTTTCACCAGAAGCACGTTGTGCTTCCCAGCTTTCTAGGTCCTCATCTGACCAGAGAGAGCTTGATTTTAAAACCCTTCCCACTTCCAATCGGGAGAAACTCCTAGGATAGCAGTGACCTTGAAAGTTTTGGGGTTGTTTTTTGGATGTTGGTGATTTTAAAACAACAACAAAAAAAACACCTCAAGTAGTGATATTTCTTTGTAAACAAAATAAAATGTAAAATATTGTTTTGAAACAATTTTTTAACAAAGTTGATCAAATAAGAACTTTCAGGCTGTGATTTTAAGCATCAGTTCAGACTGAGGGCAGGGTATCCACTCCTGCATGGAGTGTGAGGTTGAAGTTTGTTGGAAGCCCCTGGTAGTTGATAATATTGAGGTTGTTGAAGGATGAGAGGAAAGGTCGCTTCTTTCTTAGGAGCTGTGATGCTCCACTGTATTGCATAACGAGATAGCACTTGATTCAGACCCCAGAGCCTGTAGAATAAATGATGTGGAGAGAGTATTGAAAAAGGCTGGATTTATCTGGGGGAATGGCAATGTTATAAAAGGTTCTTCCCTAATTTTTTAAGAGATAAGCAATTTATAAAGAGATCAAATAAAACTAATCTCTTTCAAAACAGTATTCATTTAGCACTACCCCTGGAAAAATCATCACTAGACTGTGAGTCGAAATTTAACGAATGGAGGAAAATTTATTAAGCCTCATTCACCTTTCGGACTTTAACAAATGGTTCAAAAGGGAAAATTCACCAGAGTACCCTCAGATTATTAATGGCAGATGAGAGCAGGAAAAAAGAATGTTGAGAATGGCTAAAAATTGATTCCAATTAGTCTTGGCATGGAGAGGCAACATCTCACCTGGCCAGAGCCCTGCAGCCAGAGTGCTGTCTCCTCTGCCAGTCAGCCAGGGATCTGGGGCTTACAGGCGATTCCTCCAGGCCTCAATCTTCTCACCTGTGAAATGGGAAGATACCATTAAATTGTCATTTGGCTTCTTTCAAAATCTCAGGTCTAGAATGGAAAGGCATTGAAGGTGAGTGGAAGAGAAGAAACTGGATGTTAAAATAATAATAATGTAACAGTTATTAATTCACATGGCCAGACCCCAGGGCAGAAGACTAATGGACGAGAGGATGATTATGTTCCTTTGAAATAAAATGTCAACATTCAAATATTGTTTTTTTCTGTAAAAAATAAGTGAATGGGTCTTGGAAGGAAGTGCTCCTAATGATGTAGTTTACATATTAATGCTTAATAAACCATTTTATTTACTCAACAAATATTCACTGAGGACTTATAATCAATAATACCAAGCCCTATTGAATACAGTAATCTAATATACACATAGAATTGAAAAGACAAAATGAACAAAAGAAACAGACAGTATATCATTTCTGTTTCCTCCACTGTTTTCATTACTAAAGAAACAAGCTGCAGTACACAGCCGGCTGAGAGCTGCTTCCGGGGGAGCAGGAGAAGCAGCACTCATTTCACTGAGACCTGGGTTTGAGTTCTCTGTTTTTGAATGTGACCCAGAGCTCATCGCTTAAATGCGACTGATAATTCGTGCCTGGCCACCCTCATAGCAGCGCTCTGAAAGAAACATAAAGGAGTGGATACACGTGTGAGCAGGAGCCTAGACATGTGTCAGGTACTTACCTAAACATGGATGTTTAGGTCACTGACATACTGACACCATCAAGCTAATTCTTCTCTATTGGTCTCTATGTCAGTAAGGCTACGTGCCAGTAATGTGTATTAAATATTACCCTGTGGTGAGTATCAATTTCACCCTAAAATGTTCAT
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TGACTCCCCTGTCCCATGAAAAACCAGGATCAACATCACAGCTTTCTCTAGCAACTGGTGGTGGCCTGAGGTCTTATGAACTAGCATGTTAGCAGGGATAGAGTTAGGGAATTTGTCCGATGCTGACAGCAAGAGGGTGCTGGGGGAGCTGGAGGGGTGGAGAAGTGATCTCCCTTCCTGCCTCATGGCTTCCTTTGGAAGTTGCAAGCTTAGAATTTCTTTCCCAAAGAATATTGGACTATGCTTCAAGAGACACTTGAGTTCAGTTGCTTACAGTGAACATACTTCTTATGTTCCAGAGTTAAACTCAATCATATTTTCAGAAAAATAGATATTCAGACATCATGTCATATTTACAGGAAGCTATTTGATCATGGAATTTACTGAAGTGACAGCTTTTTCAGGAAAGGGTATCGAGTGGTTATCTATATCCTATTAATTTCTAAAAGCAATGCTCAATAAAATGTGCAATTTTAGGCAATATTCTGTGTTTCAACATTATTTCCTTATGTTGGGGGTACATCACTTTATATAGATAAAGAAAGATCCTTTTCATTCTCTATTAAATGGTCGAGAAGTCAAATTTTGGCTTTCATGTTGGTCTTCTTACTGTAGCTTCTGTTCACCTAAGAAAGAGATTTAACCAACATAAGCTTTGGCTAAACCATTGTACCAAACATTTCTATTTGGATGCTCTTAACTTTTATACAATACTTTGAAATGTGTTCAATAAAACAACATGAGAAAGAAGTAGAAGATTCTGCTATTAGGTTGGAAATTGATATTCCTTACATAAGTGATTAAAGATACTTTATTCAGTTTATCCCTTAAAATGGTATCTACTGAAGTCCTTAAACTTAGGCATGATATTAATTCCTGGCTAGTCTTTCTTTTTCCTAAAATATCACTCAATAAAATCCAAGAAGGACTAAAACTCATTATATAGAACTGCACTGCCCAATACAGCAGCCACTAGCCACATGCAGTATTTTTAATTATAATAAGTTAAAATTAAACAAAATTAAAACTTCAGCCCTCAGTGGCACTAGCCACACTTTTTGTGTCCAACAGCTACATATGGCTGGTGGCTGCCATATTGGACAGCACTAATAGAGAGCATTTCTATCATCATAGGAAGTTCTGTTGAACAAGGCTGATCTGGAAGCTACACCATCCTAAAGCTCTTTGGCAAGAAAGCAGAGCTTTTCCATAAGCTCAGTTTATGAACAATATATTTTGTATTTTCTATGTATATGTATATGAGAATACGTATACATAGAAATATATGAAAATACATATACATATAAATATACATATACATAAAATAGAAATACATATACATAGAAAATACAAAATATTTTGTATTACATATACATATGCATGGAAATACAAAATATTTTGTATTATATAATGCAAATGTAAGATATATTTATATTATGTAAGAAAATACATTTGTGCAATAAAACGCTTATTTCATTCAAGCATATTTGTCCAGCATGGTTTCTTAGAGACTGAAGTTACCCAGTTTAGCACCTGGAACTGAATTCACTCTGGCTGTGTTAGATGTAGCACCAGCGTCATGACAGATCCAGCCCACAGCATAGACTGAGGCCTACTCTGGAGGCAAATCTGCAGACAATGTGGCCAACACATGGGCCTTCCTCACATCTCTGTCCAGTCGCTGGCATCCACGTTATAACACAGCAGTGGCTCGTTTTCTCCAGTTAAAGGCTAGGCTTCCGTGATTGAAGCAGGAGAGAATTTGGTAGTCAGTAAAGTAGACAAACTAAGACAAAACAAGAGTCGCATGAGTTCTTGGTACAATTAAAGAAACCCTTGGCCACCAACGTTTTTAAATTCAGGAATTTCACCAAGTCCGTAACAGTTTTAGCTCTCAAGGGTAGAATTTTTTTTTTAACTTTTTTGGTAATAATTGTATTGCATGCATTCCCCTTACACAGAAGGCTGGCATTTAATTGGGGTCTTGAACTCAATTGTGTTTTCTGCAGTTGGTAAACCTCACAAATGTGGATATTGTGGCCGAAGCTGTAAACAGCGAAGCTCTTTAGAGGAACATAAAGAGCGCTGCCACAACTACTTGGAAAGCATGGGCCTTCCGGGCACACTGTACCCAGGTAAGCGCTGCTGCTCGGAGGCCAGCCTGGTGGGCTCTCCCCCCAGCACGGTGGGGAAGGAGGGCGCTCTGCATGCAGCCTTAGGAGCAGAGCCTTGGGCCTGCTTCCTGCCGGGGCTAGGAGGGAGGGAAGTTTTTGGCCAATAGCATCAGTTTCACCAGAAGCACGTTGTGCTTCCCAGCTTTCTAGGTCCTCATCTGACCAGAGAGAGCTTGATTTTAAAACCCTTCCCACTTCCAATCGGGAGAAACTCCTAGGATAGCAGTGACCTTGAAAGTTTTGGGGTTGTTTTTTGGATGTTGGTGATTTTAAAACAACAACAAAAAAAACACCTCAAGTAGTGATATTTCTTTGTAAACAAAATAAAATGTAAAATATTGTTTTGAAACAATTTTTTAACAAAGTTGATCAAATAAGAACTTTCAGGCTGTGATTTTAAGCATCAGTTCAGACTGAGGGCAGGGTATCCACTCCTGCATGGAGTGTGAGGTTGAAGTTTGTTGGAAGCCCCTGGTAGTTGATAATATTGAGGTTGTTGAAGGATGAGAGGAAAGGTCGCTTCTTTCTTAGGAGCTGTGATGCTCCACTGTATTGCATAACGAGATAGCACTTGATTCAGACCCCAGAGCCTGTAGAATAAATGATGTGGAGAGAGTATTGAAAAAGGCTGGATTTATCTGGGGGAATGGCAATGTTATAAAAGGTTCTTCCCTAATTTTTTAAGAGATAAGCAATTTATAAAGAGATCAAATAAAACTAATCTCTTTCAAAACAGTATTCATTTAGCACTACCCCTGGAAAAATCATCACTAGACTGTGAGTCGAAATTTAACGAATGGAGGAAAATTTATTAAGCCTCATTCACCTTTCGGACTTTAACAAATGGTTCAAAAGGGAAAATTCACCAGAGTACCCTCAGATTATTAATGGCAGATGAGAGCAGGAAAAAAGAATGTTGAGAATGGCTAAAAATTGATTCCAATTAGTCTTGGCATGGAGAGGCAACATCTCACCTGGCCAGAGCCCTGCAGCCAGAGTGCTGTCTCCTCTGCCAGTCAGCCAGGGATCTGGGGCTTACAGGCGATTCCTCCAGGCCTCAATCTTCTCACCTGTGAAATGGGAAGATACCATTAAATTGTCATTTGGCTTCTTTCAAAATCTCAGGTCTAGAATGGAAAGGCATTGAAGGTGAGTGGAAGAGAAGAAACTGGATGTTAAAATAATAATAATGTAACAGTTATTAATTCACATGGCCAGACCCCAGGGCAGAAGACTAATGGACGAGAGGATGATTATGTTCCTTTGAAATAAAATGTCAACATTCAAATATTGTTTTTTTCTGTAAAAAATAAGTGAATGGGTCTTGGAAGGAAGTGCTCCTAATGATGTAGTTTACATATTAATGCTTAATAAACCATTTTATTTACTCAACAAATATTCACTGAGGACTTATAATCAATAATACCAAGCCCTATTGAATACAGTAATCTAATATACACATAGAATTGAAAAGACAAAATGAACAAAAGAAACAGACAGTATATCATTTCTGTTTCCTCCACTGTTTTCATTACTAAAGAAACAAGCTGCAGTACACAGCCGGCTGAGAGCTGCTTCCGGGGGAGCAGGAGAAGCAGCACTCATTTCACTGAGACCTGGGTTTGAGTTCTCTGTTTTTGAATGTGACCCAGAGCTCATCGCTTAAATGCGACTGATAATTCGTGCCTGGCCACCCTCATAGCAGCGCTCTGAAAGAAACATAAAGGAGTGGATACACGTGTGAGCAGGAGCCTAGACATGTGTCAGGTACTTACCTAAACATGGATGTTTAGGTCACTGACATACTGACACCATCAAGCTAATTCTTCTCTATTGGTCTCTATGTCAGTAAGGCTACGTGCCAGTAATGTGTATTAAATATTACCCTGTGGTGAGTATCAATTTCACCCTAAAATGTTCAT
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Task1_train_11181
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The variant affects gene DDC (dopa decarboxylase), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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AGTGTCAACTAGAATCTCTGCCTAATTTTCTACCCTCTGTAAAATAAGAATAGTTCCTACTTTCTCTCAGAGCTATGACCACATGAATATGTGTAATAAACTCAAATAAGTACAAGTAAAATCAAGATATTAAGATTTTTATTGTTCTAATCTGTCCAAAACAACATACATGCATTAGGACTTACTATTGTATCACATATCTTTTTAAAAATTGAATTTCATTTTTACCTTTTGAATCTACAGCAAATATAATGACTCCAGAGGAACTGAGACTCCTATCGGAAACACACCTTTGCTGATAAATTTTCAGAGCTACACTCTCCACATATGTTCTTCTGGGCGTATGTCAATAAGATCCTGATATGATACATGCTTATGAGACAGATGCAAACGTGGGGTTGCAGAAATGCGAGTCGGGAGCGTTTGCCTGATAGGGATTTGTTTCATACAGAGCTTACAGCGGTACTTTCCCTCCCCTCACATAGTCTTATGCTGAGAGCAATGGAATAACTTCAACATATAAGCCTCTCCCCACTACCTTCCAGAGATGCTTGAGATACCACTTTGGAGTTGCTCTGGGTCAGCAGTTCTTCCTCAGACCCCAGGTCTTTCTCAGCTTATGAGTAGGGGAAGGCCCTGGTTGCACCAGGGAAAGGACCTGGTTCTCAGGGCACATTTTGACTCAGAAGGTAGCCCTTTGGCTTCAACTTTCAGGAGCCATGGACAGGTCTATCACATATACCAAACATGATTTTCAACTTCTGACTTGTTGAGCACTATACTTTTTCAGATATTCACAATTAAAATCAACAGCAAAGAAGATAAAAATTGTAGGCAATCAGGAAATGCATTACATGATCCACAGATTCTAAATCCCCCACGGGTTATAATGAACGAGCCATTGCAAAAAGGATAGGGAGAGAGAGAAAGAGAAGCAGACCCTAAGGAGGGATCACAGATTCTTCCACCAAATGGGACAAAAAGACAAAAAAAAAAAAAAAAAAAAAAGAAAATAAACAGAAAAAGGTAGACATACCCCAACAGGATGACATTCTTAAGATAACCTAATGAAGAGGCTTTCTAAGGTTGTCTAGGTTCCCACAAACATAATTTTAAATACCCTCCATGTTGCCAACACTGCATTTATTTAAAATGTGTGCTTTGTTTTTACAAATTAACTGCATGCTGTCTCCAGGGTTTAACTATGAGGGGTAAACCCCTCACAACTGCAAGAAGCCCGGTAGTCGAAACATATCCTTTCTTCAAACCATCAAGAATTTGGACGGCAAGTCGTGAGTCATAATAAATTCCCTTTTTATTGTTTTCATTAGTTCTCTAAAGGTCACCAGTTTCTTATATGAGCTTGTTATGATAGTAAGTTATCTCAACAAATGCTGTTTGAAGAAACCTGAAGTATTATAGAGATTGATGTAAGAATAAAAAGTAAAAATCTAAGTTTTAAAAGAATTATTACAATGTATCATTCCTTCTACTTCTCCAGAATTAACATGGTTTTCTCTTCTTCTTGTTTTTTTTTTTTTTTTTTTTTGGACTGAGTCCTGCATTATCGCCAGGCTGTAACGCAGTGGCGCGATCTCGGCTCACGGCAACCTCCGCCTCCCAGGTTCATGCGATTCTCCTGCCTCAGCCTCTGGAATAGCTGGGATTACAGGTGCATGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACTTTGGCCAGGATGGTCTCAATCTCTTGACCTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTTCTCTTCCTTATTTTAAGGTGAGGGAAATGCACTCTGGCAGCATTGAGTGGCCGGGCTGGGCCTGTAGCTGGGTCTGGACTCCAGGAGGACACTCTTGCCACGGGACAAGGAGACAGGCAGAAAATGAGCCCAGGGCAGCCTACCTGCAGCTGGCTTCACTCCTACTCCCTCTCTGCTCGCAGCACGTCGGCCGCCAGCTCTTTGATGTGTTCCCAGGCCCGCTGCACATGGGCAGATTCCACCGTGCGAGAACAGATGGCAAAGCGCAGGACAAACTTGTCCCTGAGGTGACATGGAACCAAGTGGATTTTTTTGGCACTGTTTATTCTTTGCAGAAGAGCTTCATTCACTTTGTTGGAACCCTGGAGGGATTGAAAGAGAGGAACTGTGCTCAGGTCTCTGAGGACTCAAAAATCAACTGGTCATGTAGGAAAGACAGTGCTTGGCAACCCTACCGTACATCAGGAAGAAGCCGACTAACCATCCCCCTTGCGTTTACGATGTTACAAAATTCAACAAAATAATAGTAATGCACCCTAAAAGACTGCATGCATCTTCTCCCCACAGACAATTTCTCTATATTCTGATGTGCCATCAAAAGATGACCCTTCCATGGTCTAAGTTTTTTTAAGGAAAATAAGGATCCCTGGATATGTAATCTACAAATATATGAGCTTAAACAGCAGAATTGGGGTTTCTGATGGCACCAGGGGAGGAGTCTCTAAATTCTCACGGAAACATAGAAGAGTCTCAGCAACCTAGAAAATGAAGCATAACGGTCAAGCTAGTGCTAGAATCTGAGAAGAATGTCCATGAACCACAGGACCGAGCAACCACTGGTGCCTCTCCAGACAAGCACGGCCCACCAGCCTGGGGTAGGCGCAGAGGCCCCACCCCTCCCACTACACTAGAGTTGGAAGCCTGGTATCAATAAGCCAATGGGAAGCCCTTGCTGTCCTGCCTGGGCCCTGCTTCCATAGCAGCCGGTCTTCTGACACTTCACCTCCATCTCCCTTTGCTCCTCTGTCCTTCTTCTGTTTGCAGGCAGTGACTCCATGTCTTCTAAGCCATGGAGTCTTAAATAGAAGGAACTGAATGTGGGACACTGCATCCTAGTCACCCAAACCTCACAGGACTGCACTTCGTGGCCCTGTCTTCAGAGTGGAGAAGCAGGGAGGATGAGTGGGAAGGAGAGAGTTCTATCCACTGCATGGAACCACCTCAGACGAGCACCTGCTGGATGTTGGCACCTGGCCATAGAGCTGTGCAAATCCCCTGGCCTCTAGCTATGGGCCTGAGTGCCCTGCTCCTGTTGTGCCCAGGTAGACAGTGATGGGCCAGAGGAAATTTGGAAACCGTGGGTGAACACCAAGGCTGGGTGAATCTGGATGAGGACTCAAGGATGAGGATAGAGAAAAAAAGAAATTATCATACCAAGGGAATGGAATTTTACCAAAAAGACTCAGTATGAGAGCAAACATCTGCAAAGTATAGAGCACAGAAAATGGAAGCAAATTATTTAGGAAAAATGTGCTTGCCATTTTCAAACAGACTGGATAGGGCAGTACTTCCATGAAGTAGAGGCAAGAAGCCTAGCAGAGGTGGGACAATTACAATGAACAAAGTAGGCTGAGTGCACACAGATGGAGACCAAGCAAGTTCTGGCCATAATGAGGATGGAGGGAGAGGGACCGTGATGCCATAGCAACATCACTTCTGCTTTAGTAAAGAGCCACATGACACACTGAAGCATTCAGCATGAGAGGACCTGAAATTCAGATTAGAGAGGATTAGACCAGGAGAGAGTGAGGCCAAGATGGCAGATATGGAGGCAGAAAAGTGAGCCACAGTGTTTGACTAACGCGCTTCCTCCAGAAACTGGATTTGCAGACTGGAGGCACAAGCAAAGTTTTACAAAAGGAAACATTTGTCAGCTGAAAAATGCCTTGGACTTCCTTCATGAGAGGACTCACTATATGGCATGAGAGAAGAATGGACAGAAACCAGTACACAGATGGGTTTGGTGGCATCTACAAATTATGCAAATAAAATAAAAGCCATAACCTTGACGACATTATGCTAAGTGAAGAAAACAGTCATAAAAGGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGG
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AGTGTCAACTAGAATCTCTGCCTAATTTTCTACCCTCTGTAAAATAAGAATAGTTCCTACTTTCTCTCAGAGCTATGACCACATGAATATGTGTAATAAACTCAAATAAGTACAAGTAAAATCAAGATATTAAGATTTTTATTGTTCTAATCTGTCCAAAACAACATACATGCATTAGGACTTACTATTGTATCACATATCTTTTTAAAAATTGAATTTCATTTTTACCTTTTGAATCTACAGCAAATATAATGACTCCAGAGGAACTGAGACTCCTATCGGAAACACACCTTTGCTGATAAATTTTCAGAGCTACACTCTCCACATATGTTCTTCTGGGCGTATGTCAATAAGATCCTGATATGATACATGCTTATGAGACAGATGCAAACGTGGGGTTGCAGAAATGCGAGTCGGGAGCGTTTGCCTGATAGGGATTTGTTTCATACAGAGCTTACAGCGGTACTTTCCCTCCCCTCACATAGTCTTATGCTGAGAGCAATGGAATAACTTCAACATATAAGCCTCTCCCCACTACCTTCCAGAGATGCTTGAGATACCACTTTGGAGTTGCTCTGGGTCAGCAGTTCTTCCTCAGACCCCAGGTCTTTCTCAGCTTATGAGTAGGGGAAGGCCCTGGTTGCACCAGGGAAAGGACCTGGTTCTCAGGGCACATTTTGACTCAGAAGGTAGCCCTTTGGCTTCAACTTTCAGGAGCCATGGACAGGTCTATCACATATACCAAACATGATTTTCAACTTCTGACTTGTTGAGCACTATACTTTTTCAGATATTCACAATTAAAATCAACAGCAAAGAAGATAAAAATTGTAGGCAATCAGGAAATGCATTACATGATCCACAGATTCTAAATCCCCCACGGGTTATAATGAACGAGCCATTGCAAAAAGGATAGGGAGAGAGAGAAAGAGAAGCAGACCCTAAGGAGGGATCACAGATTCTTCCACCAAATGGGACAAAAAGACAAAAAAAAAAAAAAAAAAAAAAGAAAATAAACAGAAAAAGGTAGACATACCCCAACAGGATGACATTCTTAAGATAACCTAATGAAGAGGCTTTCTAAGGTTGTCTAGGTTCCCACAAACATAATTTTAAATACCCTCCATGTTGCCAACACTGCATTTATTTAAAATGTGTGCTTTGTTTTTACAAATTAACTGCATGCTGTCTCCAGGGTTTAACTATGAGGGGTAAACCCCTCACAACTGCAAGAAGCCCGGTAGTCGAAACATATCCTTTCTTCAAACCATCAAGAATTTGGACGGCAAGTCGTGAGTCATAATAAATTCCCTTTTTATTGTTTTCATTAGTTCTCTAAAGGTCACCAGTTTCTTATATGAGCTTGTTATGATAGTAAGTTATCTCAACAAATGCTGTTTGAAGAAACCTGAAGTATTATAGAGATTGATGTAAGAATAAAAAGTAAAAATCTAAGTTTTAAAAGAATTATTACAATGTATCATTCCTTCTACTTCTCCAGAATTAACATGGTTTTCTCTTCTTCTTGTTTTTTTTTTTTTTTTTTTTTGGACTGAGTCCTGCATTATCGCCAGGCTGTAACGCAGTGGCGCGATCTCGGCTCACGGCAACCTCCGCCTCCCAGGTTCATGCGATTCTCCTGCCTCAGCCTCTGGAATAGCTGGGATTACAGGTGCATGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACTTTGGCCAGGATGGTCTCAATCTCTTGACCTCATGATCTGCCCACCCTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTTCTCTTCCTTATTTTAAGGTGAGGGAAATGCACTCTGGCAGCATTGAGTGGCCGGGCTGGGCCTGTAGCTGGGTCTGGACTCCAGGAGGACACTCTTGCCACGGGACAAGGAGACAGGCAGAAAATGAGCCCAGGGCAGCCTACCTGCAGCTGGCTTCACTCCTACTCCCTCTCTGCTCGCAGCACGTCGGCCGCCAGCTCTTTGATGTGTTCCCAGGCCGGCTGCACATGGGCAGATTCCACCGTGCGAGAACAGATGGCAAAGCGCAGGACAAACTTGTCCCTGAGGTGACATGGAACCAAGTGGATTTTTTTGGCACTGTTTATTCTTTGCAGAAGAGCTTCATTCACTTTGTTGGAACCCTGGAGGGATTGAAAGAGAGGAACTGTGCTCAGGTCTCTGAGGACTCAAAAATCAACTGGTCATGTAGGAAAGACAGTGCTTGGCAACCCTACCGTACATCAGGAAGAAGCCGACTAACCATCCCCCTTGCGTTTACGATGTTACAAAATTCAACAAAATAATAGTAATGCACCCTAAAAGACTGCATGCATCTTCTCCCCACAGACAATTTCTCTATATTCTGATGTGCCATCAAAAGATGACCCTTCCATGGTCTAAGTTTTTTTAAGGAAAATAAGGATCCCTGGATATGTAATCTACAAATATATGAGCTTAAACAGCAGAATTGGGGTTTCTGATGGCACCAGGGGAGGAGTCTCTAAATTCTCACGGAAACATAGAAGAGTCTCAGCAACCTAGAAAATGAAGCATAACGGTCAAGCTAGTGCTAGAATCTGAGAAGAATGTCCATGAACCACAGGACCGAGCAACCACTGGTGCCTCTCCAGACAAGCACGGCCCACCAGCCTGGGGTAGGCGCAGAGGCCCCACCCCTCCCACTACACTAGAGTTGGAAGCCTGGTATCAATAAGCCAATGGGAAGCCCTTGCTGTCCTGCCTGGGCCCTGCTTCCATAGCAGCCGGTCTTCTGACACTTCACCTCCATCTCCCTTTGCTCCTCTGTCCTTCTTCTGTTTGCAGGCAGTGACTCCATGTCTTCTAAGCCATGGAGTCTTAAATAGAAGGAACTGAATGTGGGACACTGCATCCTAGTCACCCAAACCTCACAGGACTGCACTTCGTGGCCCTGTCTTCAGAGTGGAGAAGCAGGGAGGATGAGTGGGAAGGAGAGAGTTCTATCCACTGCATGGAACCACCTCAGACGAGCACCTGCTGGATGTTGGCACCTGGCCATAGAGCTGTGCAAATCCCCTGGCCTCTAGCTATGGGCCTGAGTGCCCTGCTCCTGTTGTGCCCAGGTAGACAGTGATGGGCCAGAGGAAATTTGGAAACCGTGGGTGAACACCAAGGCTGGGTGAATCTGGATGAGGACTCAAGGATGAGGATAGAGAAAAAAAGAAATTATCATACCAAGGGAATGGAATTTTACCAAAAAGACTCAGTATGAGAGCAAACATCTGCAAAGTATAGAGCACAGAAAATGGAAGCAAATTATTTAGGAAAAATGTGCTTGCCATTTTCAAACAGACTGGATAGGGCAGTACTTCCATGAAGTAGAGGCAAGAAGCCTAGCAGAGGTGGGACAATTACAATGAACAAAGTAGGCTGAGTGCACACAGATGGAGACCAAGCAAGTTCTGGCCATAATGAGGATGGAGGGAGAGGGACCGTGATGCCATAGCAACATCACTTCTGCTTTAGTAAAGAGCCACATGACACACTGAAGCATTCAGCATGAGAGGACCTGAAATTCAGATTAGAGAGGATTAGACCAGGAGAGAGTGAGGCCAAGATGGCAGATATGGAGGCAGAAAAGTGAGCCACAGTGTTTGACTAACGCGCTTCCTCCAGAAACTGGATTTGCAGACTGGAGGCACAAGCAAAGTTTTACAAAAGGAAACATTTGTCAGCTGAAAAATGCCTTGGACTTCCTTCATGAGAGGACTCACTATATGGCATGAGAGAAGAATGGACAGAAACCAGTACACAGATGGGTTTGGTGGCATCTACAAATTATGCAAATAAAATAAAAGCCATAACCTTGACGACATTATGCTAAGTGAAGAAAACAGTCATAAAAGGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGG
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Task1_train_11182
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This variant lies on Chromosome 7 and affects the gene DDC (dopa decarboxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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GGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCACTCCTGACTAATTTTTGTATTTGTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCTGGCCTCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAAATGTTAACTTTAAATGAACAAAGTGAATTATATCTCAATAGAACTGTTAAAAAAATAGAATATAAAAGTCCTAGAAGAAAACTGTCAACAAAAACAAGAATGAAAACAACTGCTTGACAGCAGATGAGTCTAATAAGCACGATGCCAACACTAAGGTTGGTTGACTGGACACATCCTGGACATGGATGGACTGAGGCTCCTCCCACAAACATCCAGAGCGTGTCTTGCCCTCTCGGTCCTCTGTGCACCTCCCAGGTCTCATCACTTTGTGCTCTTCCAAGGGCTCAAGTCTCCTCTCCTGCTCTGCTACCTGCAGGCTTTCCCACGGCTGCAGCTCCTCCTCGCCTCAGAGCTCCAAGAGTCAGGTGAGGCAAAAGGACATAGTAGGTGGAGTGGCAGTGCCACACTCTGACTGGCAGCCCCTTGACAATGACACTGACCCCAGCCTGCTCCTTCTCCTGAGTGCTGTCTTTAATTTGAACAAGGAAGCCTCCTGGAAAGGCTTGAAATGATTGTGAATTAAAAGCTACCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCGGGTGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCAAAAGGCTGAAGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTACACCACTGCACTCCAGCCTGGGCAACAGAGTGGGAGACTCTGTCTCCAAAAAGAAAAAAAAAAAAAAAAAAAAAAAACCTTATAAACCAAACAGAGCATTTGGTCTCACCTGGCTCTGTGTACACAAGGGAGATTACCAAGGGGCATGTGTGCAGTGCATCTTAGAGCCTTTTTGAGAACTGTATCATGATTCTCAGTAGAGATGGCTTATGCCCCAACCCGTGTGGGCCAGCCTGCCCTCACCTGGTGAATGCACAGCATCAGGCAGCAAAATAACAGCACGCCACAACACAGTGTCAAACAGACTCCTGTGTGGGCATCTTGTAAAGGTGCGCAGCCAGCAGCTCTAGGGTGGGGCCCAAGACTGGCTTTTCTAAGGAGCTCCCAGACAATGCTGATGATGCTGATGCTGTTGATCCACAGAAGACACTCAGATTAGTGAGGCTATGGACAGGCCGCTGTCCTCCAAGGAGGGCCAGTGGCAGAGGTGTGGGATGGAGCCTTGAGGAAGGAAAAATGGTAAAGATTCTGCGGCCAATAAGCTATGTAAGTTAGAAGTCTCATGGCAGGCTTGAGGAAGCGGGAACAGCCGCTGTGCGTGGAAACAAGGCTGTGTAGCATGGGGCAGGGCAGGCCGGTGGGCCAAAGAATGCAGGCTTTGCTCTGCCATCTCTGGAGAGCCAGTGCCAGTGTTTGAGCATGGAGGTAATGAACAACACTTTCCCCTCTGTCACATTCACAGAAAATGAAGAATGGAATAGATGTAGACAAACCTTTAGCCGAAAGCAGACAAGCCCCAGAATGACTTCCACACAGATTTCAAAGCGGGGATCCTGGCGCACCAGTGACTCAAACTCATGGGACAGCTGGACATGCTTCAAAGAGGAAAGGGAAAATCTGTTTTTCTCATGGCCATTTAATTCAGAACTTAACTACCTAGAAAACCTTATTAGACTGCCCATGTATAATTCATTTAGACGCTCTTGGCAATTTTCCTCAAGTGCTTTTACCGTTCACTGACCAGCTGTTTCCAGGCAGGCTAAGAAACTCATTCCCTACATTAGCACAGGTCTAGTGTCCTCAGAACACCAATTGTCATTTTCTTCTGTTCATGGGACTATTCTTATCCCACCCAAACTGTCTTTTATAATGTTAGAATAAACACCGTGAGGAGGTATTTGATCATTCTGGAAGAGACAATGGCTAATGCCCATCGAGTTGCTCCTCTGTGCTTGAGGTGCCAGCGCTCACCACTGCGGCATCCTCAGGACAGCCCACAACACAGAAGATATCATGATTATCCCCATTTTGGAGATAAGAAAACAGGCTGGGAGAGGGTGAGCGACATGCCCAAGGTGCACCCGGAGGCCTTGGCTGAGCTAGGATTCTAAGGCAGCCTGATGGAGCTGCAGCTCTGTGGCTGCCACAGCTGTTGCTCCTCCTCCGCGTTTGCCACCTAGAGCTGGGCATCCTGTCCGCTCTGTCACATTCAGAAACGGCCTTCCTCTCATTGAATATCACACTGACCTTATTTCACTTCCAAATAGTTATAGAACTCAGAAGCTATTCAGACAGCATGTGATCCTAGGAGAAGGAGCCCTCCGTGGCGTAGGCCCGTGCCTTGCTCATTCTAAGCCCGCGGATACAGCAGGGCCCCCATGTTGCAGGTGCTGGGGAGGACCTGCGGAAACGCGGCGCCTCGCGGGCAGGGGGTGGCTGGGACAAAAACACGTGTCATACGAGTGGTTCCTCGTCATGCCACCAGAGAGCGCCAAAGACCTCGGCCTCATGGGCGATCCCGAAAGCCGGTTCCCGCCCAAGGAGACAGGCTTTGAGCATCGCTGGACTCTGCTCCTAAGGCAGGATTGGGTCCCCTTTAAGAAAGAAGTGGAGTGTGTTTTAAACAGGAGCCAGCATGATCATAACTAGTTGTCCTTGAGCTTAAAGACGTCATCATTGTGGGGAGATAAATCCCTTATTTTTTGGCTTTCTTTCCCCAAAAAAGCTGAATTCGTCTCAAATGGGTAGAGGGGGATTTCCTACCCAGGAATTCATATACATACTCCTTTCCCAGTTCTCGCCCCCAAACAGGTCCTCATAGTGCTCGGCAGCTCCTGGAACTGTCCTCACCGAAGCTTTGGGAGTAGGCAGTTCATGGCACATCCTAGGCATTCTATGAAGCTTGCAGATGGATGTGTTTATATATGCTGTGCCACAGAGGAGGTGGCTGGGGACACCTGCCCCTGCACACCTGGTTGTGAAGTGGCAACAGGACTTAAAATGGAGGGCTGTTACCATCACTAAGGCTGAATATCATAAGTGTGCTTGTTCCCATGAAGCCTGGGGACCTCTGTCCATCAAGATGAGGCCACAGCTTAGGAAGGACACCAGGATCAGAGAGAGCCAGCAGAACAGCAGCAGGCCTTCTGCAGCTGGCTAAACGGGTGGCTCTAGGCAGATCCAGGCTCATATTCAGGACTCAGTTTCCTCATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACGGAGTCTTGCTTTGTCACTCAGGCTTTAGTGCAGTGGCACAATCTCTGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACAAGGTTTCACTATGTTGGCCAGGCTGGTCTAGAACTCCTGACTTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACATGCGTGAGCCACCACACCCAGCCAATTGTTATTTTAAAAAAAAAAAAAA
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GGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCACTCCTGACTAATTTTTGTATTTGTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCTGGCCTCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAAATGTTAACTTTAAATGAACAAAGTGAATTATATCTCAATAGAACTGTTAAAAAAATAGAATATAAAAGTCCTAGAAGAAAACTGTCAACAAAAACAAGAATGAAAACAACTGCTTGACAGCAGATGAGTCTAATAAGCACGATGCCAACACTAAGGTTGGTTGACTGGACACATCCTGGACATGGATGGACTGAGGCTCCTCCCACAAACATCCAGAGCGTGTCTTGCCCTCTCGGTCCTCTGTGCACCTCCCAGGTCTCATCACTTTGTGCTCTTCCAAGGGCTCAAGTCTCCTCTCCTGCTCTGCTACCTGCAGGCTTTCCCACGGCTGCAGCTCCTCCTCGCCTCAGAGCTCCAAGAGTCAGGTGAGGCAAAAGGACATAGTAGGTGGAGTGGCAGTGCCACACTCTGACTGGCAGCCCCTTGACAATGACACTGACCCCAGCCTGCTCCTTCTCCTGAGTGCTGTCTTTAATTTGAACAAGGAAGCCTCCTGGAAAGGCTTGAAATGATTGTGAATTAAAAGCTACCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCGGGTGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCAAAAGGCTGAAGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTACACCACTGCACTCCAGCCTGGGCAACAGAGTGGGAGACTCTGTCTCCAAAAAGAAAAAAAAAAAAAAAAAAAAAAAACCTTATAAACCAAACAGAGCATTTGGTCTCACCTGGCTCTGTGTACACAAGGGAGATTACCAAGGGGCATGTGTGCAGTGCATCTTAGAGCCTTTTTGAGAACTGTATCATGATTCTCAGTAGAGATGGCTTATGCCCCAACCCGTGTGGGCCAGCCTGCCCTCACCTGGTGAATGCACAGCATCAGGCAGCAAAATAACAGCACGCCACAACACAGTGTCAAACAGACTCCTGTGTGGGCATCTTGTAAAGGTGCGCAGCCAGCAGCTCTAGGGTGGGGCCCAAGACTGGCTTTTCTAAGGAGCTCCCAGACAATGCTGATGATGCTGATGCTGTTGATCCACAGAAGACACTCAGATTAGTGAGGCTATGGACAGGCCGCTGTCCTCCAAGGAGGGCCAGTGGCAGAGGTGTGGGATGGAGCCTTGAGGAAGGAAAAATGGTAAAGATTCTGCGGCCAATAAGCTATGTAAGTTAGAAGTCTCATGGCAGGCTTGAGGAAGCGGGAACAGCCGCTGTGCGTGGAAACAAGGCTGTGTAGCATGGGGCAGGGCAGGCCGGTGGGCCAAAGAATGCAGGCTTTGCTCTGCCATCTCTGGAGAGCCAGTGCCAGTGTTTGAGCATGGAGGTAATGAACAACACTTTCCCCTCTGTCACATTCACAGAAAATGAAGAATGGAATAGATGTAGACAAACCTTTAGCCAAAAGCAGACAAGCCCCAGAATGACTTCCACACAGATTTCAAAGCGGGGATCCTGGCGCACCAGTGACTCAAACTCATGGGACAGCTGGACATGCTTCAAAGAGGAAAGGGAAAATCTGTTTTTCTCATGGCCATTTAATTCAGAACTTAACTACCTAGAAAACCTTATTAGACTGCCCATGTATAATTCATTTAGACGCTCTTGGCAATTTTCCTCAAGTGCTTTTACCGTTCACTGACCAGCTGTTTCCAGGCAGGCTAAGAAACTCATTCCCTACATTAGCACAGGTCTAGTGTCCTCAGAACACCAATTGTCATTTTCTTCTGTTCATGGGACTATTCTTATCCCACCCAAACTGTCTTTTATAATGTTAGAATAAACACCGTGAGGAGGTATTTGATCATTCTGGAAGAGACAATGGCTAATGCCCATCGAGTTGCTCCTCTGTGCTTGAGGTGCCAGCGCTCACCACTGCGGCATCCTCAGGACAGCCCACAACACAGAAGATATCATGATTATCCCCATTTTGGAGATAAGAAAACAGGCTGGGAGAGGGTGAGCGACATGCCCAAGGTGCACCCGGAGGCCTTGGCTGAGCTAGGATTCTAAGGCAGCCTGATGGAGCTGCAGCTCTGTGGCTGCCACAGCTGTTGCTCCTCCTCCGCGTTTGCCACCTAGAGCTGGGCATCCTGTCCGCTCTGTCACATTCAGAAACGGCCTTCCTCTCATTGAATATCACACTGACCTTATTTCACTTCCAAATAGTTATAGAACTCAGAAGCTATTCAGACAGCATGTGATCCTAGGAGAAGGAGCCCTCCGTGGCGTAGGCCCGTGCCTTGCTCATTCTAAGCCCGCGGATACAGCAGGGCCCCCATGTTGCAGGTGCTGGGGAGGACCTGCGGAAACGCGGCGCCTCGCGGGCAGGGGGTGGCTGGGACAAAAACACGTGTCATACGAGTGGTTCCTCGTCATGCCACCAGAGAGCGCCAAAGACCTCGGCCTCATGGGCGATCCCGAAAGCCGGTTCCCGCCCAAGGAGACAGGCTTTGAGCATCGCTGGACTCTGCTCCTAAGGCAGGATTGGGTCCCCTTTAAGAAAGAAGTGGAGTGTGTTTTAAACAGGAGCCAGCATGATCATAACTAGTTGTCCTTGAGCTTAAAGACGTCATCATTGTGGGGAGATAAATCCCTTATTTTTTGGCTTTCTTTCCCCAAAAAAGCTGAATTCGTCTCAAATGGGTAGAGGGGGATTTCCTACCCAGGAATTCATATACATACTCCTTTCCCAGTTCTCGCCCCCAAACAGGTCCTCATAGTGCTCGGCAGCTCCTGGAACTGTCCTCACCGAAGCTTTGGGAGTAGGCAGTTCATGGCACATCCTAGGCATTCTATGAAGCTTGCAGATGGATGTGTTTATATATGCTGTGCCACAGAGGAGGTGGCTGGGGACACCTGCCCCTGCACACCTGGTTGTGAAGTGGCAACAGGACTTAAAATGGAGGGCTGTTACCATCACTAAGGCTGAATATCATAAGTGTGCTTGTTCCCATGAAGCCTGGGGACCTCTGTCCATCAAGATGAGGCCACAGCTTAGGAAGGACACCAGGATCAGAGAGAGCCAGCAGAACAGCAGCAGGCCTTCTGCAGCTGGCTAAACGGGTGGCTCTAGGCAGATCCAGGCTCATATTCAGGACTCAGTTTCCTCATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACGGAGTCTTGCTTTGTCACTCAGGCTTTAGTGCAGTGGCACAATCTCTGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACAAGGTTTCACTATGTTGGCCAGGCTGGTCTAGAACTCCTGACTTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACATGCGTGAGCCACCACACCCAGCCAATTGTTATTTTAAAAAAAAAAAAAA
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Task1_train_11183
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Here is a mutation in DDC (dopa decarboxylase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; RASopathy
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GGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCACTCCTGACTAATTTTTGTATTTGTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCTGGCCTCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAAATGTTAACTTTAAATGAACAAAGTGAATTATATCTCAATAGAACTGTTAAAAAAATAGAATATAAAAGTCCTAGAAGAAAACTGTCAACAAAAACAAGAATGAAAACAACTGCTTGACAGCAGATGAGTCTAATAAGCACGATGCCAACACTAAGGTTGGTTGACTGGACACATCCTGGACATGGATGGACTGAGGCTCCTCCCACAAACATCCAGAGCGTGTCTTGCCCTCTCGGTCCTCTGTGCACCTCCCAGGTCTCATCACTTTGTGCTCTTCCAAGGGCTCAAGTCTCCTCTCCTGCTCTGCTACCTGCAGGCTTTCCCACGGCTGCAGCTCCTCCTCGCCTCAGAGCTCCAAGAGTCAGGTGAGGCAAAAGGACATAGTAGGTGGAGTGGCAGTGCCACACTCTGACTGGCAGCCCCTTGACAATGACACTGACCCCAGCCTGCTCCTTCTCCTGAGTGCTGTCTTTAATTTGAACAAGGAAGCCTCCTGGAAAGGCTTGAAATGATTGTGAATTAAAAGCTACCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCGGGTGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCAAAAGGCTGAAGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTACACCACTGCACTCCAGCCTGGGCAACAGAGTGGGAGACTCTGTCTCCAAAAAGAAAAAAAAAAAAAAAAAAAAAAAACCTTATAAACCAAACAGAGCATTTGGTCTCACCTGGCTCTGTGTACACAAGGGAGATTACCAAGGGGCATGTGTGCAGTGCATCTTAGAGCCTTTTTGAGAACTGTATCATGATTCTCAGTAGAGATGGCTTATGCCCCAACCCGTGTGGGCCAGCCTGCCCTCACCTGGTGAATGCACAGCATCAGGCAGCAAAATAACAGCACGCCACAACACAGTGTCAAACAGACTCCTGTGTGGGCATCTTGTAAAGGTGCGCAGCCAGCAGCTCTAGGGTGGGGCCCAAGACTGGCTTTTCTAAGGAGCTCCCAGACAATGCTGATGATGCTGATGCTGTTGATCCACAGAAGACACTCAGATTAGTGAGGCTATGGACAGGCCGCTGTCCTCCAAGGAGGGCCAGTGGCAGAGGTGTGGGATGGAGCCTTGAGGAAGGAAAAATGGTAAAGATTCTGCGGCCAATAAGCTATGTAAGTTAGAAGTCTCATGGCAGGCTTGAGGAAGCGGGAACAGCCGCTGTGCGTGGAAACAAGGCTGTGTAGCATGGGGCAGGGCAGGCCGGTGGGCCAAAGAATGCAGGCTTTGCTCTGCCATCTCTGGAGAGCCAGTGCCAGTGTTTGAGCATGGAGGTAATGAACAACACTTTCCCCTCTGTCACATTCACAGAAAATGAAGAATGGAATAGATGTAGACAAACCTTTAGCCGAAAGCAGACAAGCCCCAGAATGACTTCCACACAGATTTCAAAGCGGGGATCCTGGCGCACCAGTGACTCAAACTCATGGGACAGCTGGACATGCTTCAAAGAGGAAAGGGAAAATCTGTTTTTCTCATGGCCATTTAATTCAGAACTTAACTACCTAGAAAACCTTATTAGACTGCCCATGTATAATTCATTTAGACGCTCTTGGCAATTTTCCTCAAGTGCTTTTACCGTTCACTGACCAGCTGTTTCCAGGCAGGCTAAGAAACTCATTCCCTACATTAGCACAGGTCTAGTGTCCTCAGAACACCAATTGTCATTTTCTTCTGTTCATGGGACTATTCTTATCCCACCCAAACTGTCTTTTATAATGTTAGAATAAACACCGTGAGGAGGTATTTGATCATTCTGGAAGAGACAATGGCTAATGCCCATCGAGTTGCTCCTCTGTGCTTGAGGTGCCAGCGCTCACCACTGCGGCATCCTCAGGACAGCCCACAACACAGAAGATATCATGATTATCCCCATTTTGGAGATAAGAAAACAGGCTGGGAGAGGGTGAGCGACATGCCCAAGGTGCACCCGGAGGCCTTGGCTGAGCTAGGATTCTAAGGCAGCCTGATGGAGCTGCAGCTCTGTGGCTGCCACAGCTGTTGCTCCTCCTCCGCGTTTGCCACCTAGAGCTGGGCATCCTGTCCGCTCTGTCACATTCAGAAACGGCCTTCCTCTCATTGAATATCACACTGACCTTATTTCACTTCCAAATAGTTATAGAACTCAGAAGCTATTCAGACAGCATGTGATCCTAGGAGAAGGAGCCCTCCGTGGCGTAGGCCCGTGCCTTGCTCATTCTAAGCCCGCGGATACAGCAGGGCCCCCATGTTGCAGGTGCTGGGGAGGACCTGCGGAAACGCGGCGCCTCGCGGGCAGGGGGTGGCTGGGACAAAAACACGTGTCATACGAGTGGTTCCTCGTCATGCCACCAGAGAGCGCCAAAGACCTCGGCCTCATGGGCGATCCCGAAAGCCGGTTCCCGCCCAAGGAGACAGGCTTTGAGCATCGCTGGACTCTGCTCCTAAGGCAGGATTGGGTCCCCTTTAAGAAAGAAGTGGAGTGTGTTTTAAACAGGAGCCAGCATGATCATAACTAGTTGTCCTTGAGCTTAAAGACGTCATCATTGTGGGGAGATAAATCCCTTATTTTTTGGCTTTCTTTCCCCAAAAAAGCTGAATTCGTCTCAAATGGGTAGAGGGGGATTTCCTACCCAGGAATTCATATACATACTCCTTTCCCAGTTCTCGCCCCCAAACAGGTCCTCATAGTGCTCGGCAGCTCCTGGAACTGTCCTCACCGAAGCTTTGGGAGTAGGCAGTTCATGGCACATCCTAGGCATTCTATGAAGCTTGCAGATGGATGTGTTTATATATGCTGTGCCACAGAGGAGGTGGCTGGGGACACCTGCCCCTGCACACCTGGTTGTGAAGTGGCAACAGGACTTAAAATGGAGGGCTGTTACCATCACTAAGGCTGAATATCATAAGTGTGCTTGTTCCCATGAAGCCTGGGGACCTCTGTCCATCAAGATGAGGCCACAGCTTAGGAAGGACACCAGGATCAGAGAGAGCCAGCAGAACAGCAGCAGGCCTTCTGCAGCTGGCTAAACGGGTGGCTCTAGGCAGATCCAGGCTCATATTCAGGACTCAGTTTCCTCATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACGGAGTCTTGCTTTGTCACTCAGGCTTTAGTGCAGTGGCACAATCTCTGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACAAGGTTTCACTATGTTGGCCAGGCTGGTCTAGAACTCCTGACTTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACATGCGTGAGCCACCACACCCAGCCAATTGTTATTTTAAAAAAAAAAAAAA
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GGCAATATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCACTCCTGACTAATTTTTGTATTTGTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCTGGCCTCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAAATGTTAACTTTAAATGAACAAAGTGAATTATATCTCAATAGAACTGTTAAAAAAATAGAATATAAAAGTCCTAGAAGAAAACTGTCAACAAAAACAAGAATGAAAACAACTGCTTGACAGCAGATGAGTCTAATAAGCACGATGCCAACACTAAGGTTGGTTGACTGGACACATCCTGGACATGGATGGACTGAGGCTCCTCCCACAAACATCCAGAGCGTGTCTTGCCCTCTCGGTCCTCTGTGCACCTCCCAGGTCTCATCACTTTGTGCTCTTCCAAGGGCTCAAGTCTCCTCTCCTGCTCTGCTACCTGCAGGCTTTCCCACGGCTGCAGCTCCTCCTCGCCTCAGAGCTCCAAGAGTCAGGTGAGGCAAAAGGACATAGTAGGTGGAGTGGCAGTGCCACACTCTGACTGGCAGCCCCTTGACAATGACACTGACCCCAGCCTGCTCCTTCTCCTGAGTGCTGTCTTTAATTTGAACAAGGAAGCCTCCTGGAAAGGCTTGAAATGATTGTGAATTAAAAGCTACCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCGGGTGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCAAAAGGCTGAAGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTACACCACTGCACTCCAGCCTGGGCAACAGAGTGGGAGACTCTGTCTCCAAAAAGAAAAAAAAAAAAAAAAAAAAAAAACCTTATAAACCAAACAGAGCATTTGGTCTCACCTGGCTCTGTGTACACAAGGGAGATTACCAAGGGGCATGTGTGCAGTGCATCTTAGAGCCTTTTTGAGAACTGTATCATGATTCTCAGTAGAGATGGCTTATGCCCCAACCCGTGTGGGCCAGCCTGCCCTCACCTGGTGAATGCACAGCATCAGGCAGCAAAATAACAGCACGCCACAACACAGTGTCAAACAGACTCCTGTGTGGGCATCTTGTAAAGGTGCGCAGCCAGCAGCTCTAGGGTGGGGCCCAAGACTGGCTTTTCTAAGGAGCTCCCAGACAATGCTGATGATGCTGATGCTGTTGATCCACAGAAGACACTCAGATTAGTGAGGCTATGGACAGGCCGCTGTCCTCCAAGGAGGGCCAGTGGCAGAGGTGTGGGATGGAGCCTTGAGGAAGGAAAAATGGTAAAGATTCTGCGGCCAATAAGCTATGTAAGTTAGAAGTCTCATGGCAGGCTTGAGGAAGCGGGAACAGCCGCTGTGCGTGGAAACAAGGCTGTGTAGCATGGGGCAGGGCAGGCCGGTGGGCCAAAGAATGCAGGCTTTGCTCTGCCATCTCTGGAGAGCCAGTGCCAGTGTTTGAGCATGGAGGTAATGAACAACACTTTCCCCTCTGTCACATTCACAGAAAATGAAGAATGGAATAGATGTAGACAAACCTTTAGCCAAAAGCAGACAAGCCCCAGAATGACTTCCACACAGATTTCAAAGCGGGGATCCTGGCGCACCAGTGACTCAAACTCATGGGACAGCTGGACATGCTTCAAAGAGGAAAGGGAAAATCTGTTTTTCTCATGGCCATTTAATTCAGAACTTAACTACCTAGAAAACCTTATTAGACTGCCCATGTATAATTCATTTAGACGCTCTTGGCAATTTTCCTCAAGTGCTTTTACCGTTCACTGACCAGCTGTTTCCAGGCAGGCTAAGAAACTCATTCCCTACATTAGCACAGGTCTAGTGTCCTCAGAACACCAATTGTCATTTTCTTCTGTTCATGGGACTATTCTTATCCCACCCAAACTGTCTTTTATAATGTTAGAATAAACACCGTGAGGAGGTATTTGATCATTCTGGAAGAGACAATGGCTAATGCCCATCGAGTTGCTCCTCTGTGCTTGAGGTGCCAGCGCTCACCACTGCGGCATCCTCAGGACAGCCCACAACACAGAAGATATCATGATTATCCCCATTTTGGAGATAAGAAAACAGGCTGGGAGAGGGTGAGCGACATGCCCAAGGTGCACCCGGAGGCCTTGGCTGAGCTAGGATTCTAAGGCAGCCTGATGGAGCTGCAGCTCTGTGGCTGCCACAGCTGTTGCTCCTCCTCCGCGTTTGCCACCTAGAGCTGGGCATCCTGTCCGCTCTGTCACATTCAGAAACGGCCTTCCTCTCATTGAATATCACACTGACCTTATTTCACTTCCAAATAGTTATAGAACTCAGAAGCTATTCAGACAGCATGTGATCCTAGGAGAAGGAGCCCTCCGTGGCGTAGGCCCGTGCCTTGCTCATTCTAAGCCCGCGGATACAGCAGGGCCCCCATGTTGCAGGTGCTGGGGAGGACCTGCGGAAACGCGGCGCCTCGCGGGCAGGGGGTGGCTGGGACAAAAACACGTGTCATACGAGTGGTTCCTCGTCATGCCACCAGAGAGCGCCAAAGACCTCGGCCTCATGGGCGATCCCGAAAGCCGGTTCCCGCCCAAGGAGACAGGCTTTGAGCATCGCTGGACTCTGCTCCTAAGGCAGGATTGGGTCCCCTTTAAGAAAGAAGTGGAGTGTGTTTTAAACAGGAGCCAGCATGATCATAACTAGTTGTCCTTGAGCTTAAAGACGTCATCATTGTGGGGAGATAAATCCCTTATTTTTTGGCTTTCTTTCCCCAAAAAAGCTGAATTCGTCTCAAATGGGTAGAGGGGGATTTCCTACCCAGGAATTCATATACATACTCCTTTCCCAGTTCTCGCCCCCAAACAGGTCCTCATAGTGCTCGGCAGCTCCTGGAACTGTCCTCACCGAAGCTTTGGGAGTAGGCAGTTCATGGCACATCCTAGGCATTCTATGAAGCTTGCAGATGGATGTGTTTATATATGCTGTGCCACAGAGGAGGTGGCTGGGGACACCTGCCCCTGCACACCTGGTTGTGAAGTGGCAACAGGACTTAAAATGGAGGGCTGTTACCATCACTAAGGCTGAATATCATAAGTGTGCTTGTTCCCATGAAGCCTGGGGACCTCTGTCCATCAAGATGAGGCCACAGCTTAGGAAGGACACCAGGATCAGAGAGAGCCAGCAGAACAGCAGCAGGCCTTCTGCAGCTGGCTAAACGGGTGGCTCTAGGCAGATCCAGGCTCATATTCAGGACTCAGTTTCCTCATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACGGAGTCTTGCTTTGTCACTCAGGCTTTAGTGCAGTGGCACAATCTCTGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACAAGGTTTCACTATGTTGGCCAGGCTGGTCTAGAACTCCTGACTTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACATGCGTGAGCCACCACACCCAGCCAATTGTTATTTTAAAAAAAAAAAAAA
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Task1_train_11184
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This gene mutation involves DDC (dopa decarboxylase) on Chromosome 7. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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ATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCACTCCTGACTAATTTTTGTATTTGTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCTGGCCTCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAAATGTTAACTTTAAATGAACAAAGTGAATTATATCTCAATAGAACTGTTAAAAAAATAGAATATAAAAGTCCTAGAAGAAAACTGTCAACAAAAACAAGAATGAAAACAACTGCTTGACAGCAGATGAGTCTAATAAGCACGATGCCAACACTAAGGTTGGTTGACTGGACACATCCTGGACATGGATGGACTGAGGCTCCTCCCACAAACATCCAGAGCGTGTCTTGCCCTCTCGGTCCTCTGTGCACCTCCCAGGTCTCATCACTTTGTGCTCTTCCAAGGGCTCAAGTCTCCTCTCCTGCTCTGCTACCTGCAGGCTTTCCCACGGCTGCAGCTCCTCCTCGCCTCAGAGCTCCAAGAGTCAGGTGAGGCAAAAGGACATAGTAGGTGGAGTGGCAGTGCCACACTCTGACTGGCAGCCCCTTGACAATGACACTGACCCCAGCCTGCTCCTTCTCCTGAGTGCTGTCTTTAATTTGAACAAGGAAGCCTCCTGGAAAGGCTTGAAATGATTGTGAATTAAAAGCTACCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCGGGTGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCAAAAGGCTGAAGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTACACCACTGCACTCCAGCCTGGGCAACAGAGTGGGAGACTCTGTCTCCAAAAAGAAAAAAAAAAAAAAAAAAAAAAAACCTTATAAACCAAACAGAGCATTTGGTCTCACCTGGCTCTGTGTACACAAGGGAGATTACCAAGGGGCATGTGTGCAGTGCATCTTAGAGCCTTTTTGAGAACTGTATCATGATTCTCAGTAGAGATGGCTTATGCCCCAACCCGTGTGGGCCAGCCTGCCCTCACCTGGTGAATGCACAGCATCAGGCAGCAAAATAACAGCACGCCACAACACAGTGTCAAACAGACTCCTGTGTGGGCATCTTGTAAAGGTGCGCAGCCAGCAGCTCTAGGGTGGGGCCCAAGACTGGCTTTTCTAAGGAGCTCCCAGACAATGCTGATGATGCTGATGCTGTTGATCCACAGAAGACACTCAGATTAGTGAGGCTATGGACAGGCCGCTGTCCTCCAAGGAGGGCCAGTGGCAGAGGTGTGGGATGGAGCCTTGAGGAAGGAAAAATGGTAAAGATTCTGCGGCCAATAAGCTATGTAAGTTAGAAGTCTCATGGCAGGCTTGAGGAAGCGGGAACAGCCGCTGTGCGTGGAAACAAGGCTGTGTAGCATGGGGCAGGGCAGGCCGGTGGGCCAAAGAATGCAGGCTTTGCTCTGCCATCTCTGGAGAGCCAGTGCCAGTGTTTGAGCATGGAGGTAATGAACAACACTTTCCCCTCTGTCACATTCACAGAAAATGAAGAATGGAATAGATGTAGACAAACCTTTAGCCGAAAGCAGACAAGCCCCAGAATGACTTCCACACAGATTTCAAAGCGGGGATCCTGGCGCACCAGTGACTCAAACTCATGGGACAGCTGGACATGCTTCAAAGAGGAAAGGGAAAATCTGTTTTTCTCATGGCCATTTAATTCAGAACTTAACTACCTAGAAAACCTTATTAGACTGCCCATGTATAATTCATTTAGACGCTCTTGGCAATTTTCCTCAAGTGCTTTTACCGTTCACTGACCAGCTGTTTCCAGGCAGGCTAAGAAACTCATTCCCTACATTAGCACAGGTCTAGTGTCCTCAGAACACCAATTGTCATTTTCTTCTGTTCATGGGACTATTCTTATCCCACCCAAACTGTCTTTTATAATGTTAGAATAAACACCGTGAGGAGGTATTTGATCATTCTGGAAGAGACAATGGCTAATGCCCATCGAGTTGCTCCTCTGTGCTTGAGGTGCCAGCGCTCACCACTGCGGCATCCTCAGGACAGCCCACAACACAGAAGATATCATGATTATCCCCATTTTGGAGATAAGAAAACAGGCTGGGAGAGGGTGAGCGACATGCCCAAGGTGCACCCGGAGGCCTTGGCTGAGCTAGGATTCTAAGGCAGCCTGATGGAGCTGCAGCTCTGTGGCTGCCACAGCTGTTGCTCCTCCTCCGCGTTTGCCACCTAGAGCTGGGCATCCTGTCCGCTCTGTCACATTCAGAAACGGCCTTCCTCTCATTGAATATCACACTGACCTTATTTCACTTCCAAATAGTTATAGAACTCAGAAGCTATTCAGACAGCATGTGATCCTAGGAGAAGGAGCCCTCCGTGGCGTAGGCCCGTGCCTTGCTCATTCTAAGCCCGCGGATACAGCAGGGCCCCCATGTTGCAGGTGCTGGGGAGGACCTGCGGAAACGCGGCGCCTCGCGGGCAGGGGGTGGCTGGGACAAAAACACGTGTCATACGAGTGGTTCCTCGTCATGCCACCAGAGAGCGCCAAAGACCTCGGCCTCATGGGCGATCCCGAAAGCCGGTTCCCGCCCAAGGAGACAGGCTTTGAGCATCGCTGGACTCTGCTCCTAAGGCAGGATTGGGTCCCCTTTAAGAAAGAAGTGGAGTGTGTTTTAAACAGGAGCCAGCATGATCATAACTAGTTGTCCTTGAGCTTAAAGACGTCATCATTGTGGGGAGATAAATCCCTTATTTTTTGGCTTTCTTTCCCCAAAAAAGCTGAATTCGTCTCAAATGGGTAGAGGGGGATTTCCTACCCAGGAATTCATATACATACTCCTTTCCCAGTTCTCGCCCCCAAACAGGTCCTCATAGTGCTCGGCAGCTCCTGGAACTGTCCTCACCGAAGCTTTGGGAGTAGGCAGTTCATGGCACATCCTAGGCATTCTATGAAGCTTGCAGATGGATGTGTTTATATATGCTGTGCCACAGAGGAGGTGGCTGGGGACACCTGCCCCTGCACACCTGGTTGTGAAGTGGCAACAGGACTTAAAATGGAGGGCTGTTACCATCACTAAGGCTGAATATCATAAGTGTGCTTGTTCCCATGAAGCCTGGGGACCTCTGTCCATCAAGATGAGGCCACAGCTTAGGAAGGACACCAGGATCAGAGAGAGCCAGCAGAACAGCAGCAGGCCTTCTGCAGCTGGCTAAACGGGTGGCTCTAGGCAGATCCAGGCTCATATTCAGGACTCAGTTTCCTCATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACGGAGTCTTGCTTTGTCACTCAGGCTTTAGTGCAGTGGCACAATCTCTGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACAAGGTTTCACTATGTTGGCCAGGCTGGTCTAGAACTCCTGACTTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACATGCGTGAGCCACCACACCCAGCCAATTGTTATTTTAAAAAAAAAAAAAAAAAAAA
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ATGTTGTATGTTTTCATTTATACAAATGTCCAGAATAGACAAACCTACAGAGACAGAAAACAGATTAGTAGCCCTGAGGATGGGGAAAGTGGCATGACTGGGTGTGGGGTTTCTTTTAGGGGGATGAAAATGTTCTAGAATTAGATTGTGGTGATGGCTGCACAATTCTGTAGATATACTAAAAATACTCAAACGTAGCCTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTAGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAATGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGTGCCACCACTCCTGACTAATTTTTGTATTTGTAGTAGAGACGAGGTTTCACCATGTTGGTCAGGCTGTTCTCGAACTCCTGACCTCAAGTGATCTGGCCTCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAAATGTTAACTTTAAATGAACAAAGTGAATTATATCTCAATAGAACTGTTAAAAAAATAGAATATAAAAGTCCTAGAAGAAAACTGTCAACAAAAACAAGAATGAAAACAACTGCTTGACAGCAGATGAGTCTAATAAGCACGATGCCAACACTAAGGTTGGTTGACTGGACACATCCTGGACATGGATGGACTGAGGCTCCTCCCACAAACATCCAGAGCGTGTCTTGCCCTCTCGGTCCTCTGTGCACCTCCCAGGTCTCATCACTTTGTGCTCTTCCAAGGGCTCAAGTCTCCTCTCCTGCTCTGCTACCTGCAGGCTTTCCCACGGCTGCAGCTCCTCCTCGCCTCAGAGCTCCAAGAGTCAGGTGAGGCAAAAGGACATAGTAGGTGGAGTGGCAGTGCCACACTCTGACTGGCAGCCCCTTGACAATGACACTGACCCCAGCCTGCTCCTTCTCCTGAGTGCTGTCTTTAATTTGAACAAGGAAGCCTCCTGGAAAGGCTTGAAATGATTGTGAATTAAAAGCTACCTCAGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCGGGTGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCAAAAGGCTGAAGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTACACCACTGCACTCCAGCCTGGGCAACAGAGTGGGAGACTCTGTCTCCAAAAAGAAAAAAAAAAAAAAAAAAAAAAAACCTTATAAACCAAACAGAGCATTTGGTCTCACCTGGCTCTGTGTACACAAGGGAGATTACCAAGGGGCATGTGTGCAGTGCATCTTAGAGCCTTTTTGAGAACTGTATCATGATTCTCAGTAGAGATGGCTTATGCCCCAACCCGTGTGGGCCAGCCTGCCCTCACCTGGTGAATGCACAGCATCAGGCAGCAAAATAACAGCACGCCACAACACAGTGTCAAACAGACTCCTGTGTGGGCATCTTGTAAAGGTGCGCAGCCAGCAGCTCTAGGGTGGGGCCCAAGACTGGCTTTTCTAAGGAGCTCCCAGACAATGCTGATGATGCTGATGCTGTTGATCCACAGAAGACACTCAGATTAGTGAGGCTATGGACAGGCCGCTGTCCTCCAAGGAGGGCCAGTGGCAGAGGTGTGGGATGGAGCCTTGAGGAAGGAAAAATGGTAAAGATTCTGCGGCCAATAAGCTATGTAAGTTAGAAGTCTCATGGCAGGCTTGAGGAAGCGGGAACAGCCGCTGTGCGTGGAAACAAGGCTGTGTAGCATGGGGCAGGGCAGGCCGGTGGGCCAAAGAATGCAGGCTTTGCTCTGCCATCTCTGGAGAGCCAGTGCCAGTGTTTGAGCATGGAGGTAATGAACAACACTTTCCCCTCTGTCACATTCACAGAAAATGAAGAATGGAATAGATGTAGACAAACCTTTAGCCGAAAGCCGACAAGCCCCAGAATGACTTCCACACAGATTTCAAAGCGGGGATCCTGGCGCACCAGTGACTCAAACTCATGGGACAGCTGGACATGCTTCAAAGAGGAAAGGGAAAATCTGTTTTTCTCATGGCCATTTAATTCAGAACTTAACTACCTAGAAAACCTTATTAGACTGCCCATGTATAATTCATTTAGACGCTCTTGGCAATTTTCCTCAAGTGCTTTTACCGTTCACTGACCAGCTGTTTCCAGGCAGGCTAAGAAACTCATTCCCTACATTAGCACAGGTCTAGTGTCCTCAGAACACCAATTGTCATTTTCTTCTGTTCATGGGACTATTCTTATCCCACCCAAACTGTCTTTTATAATGTTAGAATAAACACCGTGAGGAGGTATTTGATCATTCTGGAAGAGACAATGGCTAATGCCCATCGAGTTGCTCCTCTGTGCTTGAGGTGCCAGCGCTCACCACTGCGGCATCCTCAGGACAGCCCACAACACAGAAGATATCATGATTATCCCCATTTTGGAGATAAGAAAACAGGCTGGGAGAGGGTGAGCGACATGCCCAAGGTGCACCCGGAGGCCTTGGCTGAGCTAGGATTCTAAGGCAGCCTGATGGAGCTGCAGCTCTGTGGCTGCCACAGCTGTTGCTCCTCCTCCGCGTTTGCCACCTAGAGCTGGGCATCCTGTCCGCTCTGTCACATTCAGAAACGGCCTTCCTCTCATTGAATATCACACTGACCTTATTTCACTTCCAAATAGTTATAGAACTCAGAAGCTATTCAGACAGCATGTGATCCTAGGAGAAGGAGCCCTCCGTGGCGTAGGCCCGTGCCTTGCTCATTCTAAGCCCGCGGATACAGCAGGGCCCCCATGTTGCAGGTGCTGGGGAGGACCTGCGGAAACGCGGCGCCTCGCGGGCAGGGGGTGGCTGGGACAAAAACACGTGTCATACGAGTGGTTCCTCGTCATGCCACCAGAGAGCGCCAAAGACCTCGGCCTCATGGGCGATCCCGAAAGCCGGTTCCCGCCCAAGGAGACAGGCTTTGAGCATCGCTGGACTCTGCTCCTAAGGCAGGATTGGGTCCCCTTTAAGAAAGAAGTGGAGTGTGTTTTAAACAGGAGCCAGCATGATCATAACTAGTTGTCCTTGAGCTTAAAGACGTCATCATTGTGGGGAGATAAATCCCTTATTTTTTGGCTTTCTTTCCCCAAAAAAGCTGAATTCGTCTCAAATGGGTAGAGGGGGATTTCCTACCCAGGAATTCATATACATACTCCTTTCCCAGTTCTCGCCCCCAAACAGGTCCTCATAGTGCTCGGCAGCTCCTGGAACTGTCCTCACCGAAGCTTTGGGAGTAGGCAGTTCATGGCACATCCTAGGCATTCTATGAAGCTTGCAGATGGATGTGTTTATATATGCTGTGCCACAGAGGAGGTGGCTGGGGACACCTGCCCCTGCACACCTGGTTGTGAAGTGGCAACAGGACTTAAAATGGAGGGCTGTTACCATCACTAAGGCTGAATATCATAAGTGTGCTTGTTCCCATGAAGCCTGGGGACCTCTGTCCATCAAGATGAGGCCACAGCTTAGGAAGGACACCAGGATCAGAGAGAGCCAGCAGAACAGCAGCAGGCCTTCTGCAGCTGGCTAAACGGGTGGCTCTAGGCAGATCCAGGCTCATATTCAGGACTCAGTTTCCTCATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACGGAGTCTTGCTTTGTCACTCAGGCTTTAGTGCAGTGGCACAATCTCTGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACAAGGTTTCACTATGTTGGCCAGGCTGGTCTAGAACTCCTGACTTCATGATCTGCCCACCTCGGCCTCCCAAAGTGCCGGGATTACATGCGTGAGCCACCACACCCAGCCAATTGTTATTTTAAAAAAAAAAAAAAAAAAAA
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Task1_train_11185
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This variant affects the gene DDC (dopa decarboxylase) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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CCTTTACGACACATGGCCTCTCATTAGTAAGGGAGCTTGTTAAACAAACATAACATCAATAGCAGCATCTGGCAATGATTCACAGAAACCACTGCAAATGAAACAACAACACTCAACAGAGTGCATGCAGAAAGCACTCAGTAAGAAATTGTCGACGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGCAAATCGCTTGAGCTCAGGAGTTCAAGACTAGCTTTGGCAACATGGTGAAACCCCGTCTCTACCAAAAAAAAAAAAAAATACAAAAAATTATCTGGGCCTTGTGCTGTACGTCTGTGGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACTTGAGCCTGGGAGGTGGAGGCTGCAGAGAGCCAAGGTTGCACCACTGCATTCCAGCTTGGGTGACAGAGCCAAACCCTGTCTCAAAAAAAAAAAATTGTCAAAGAACCAGATGATTGTCATGAATGAAAATGAGGGAATGGCCCACCTTTTTAGTTTCTATTACCGCACCATCTGATACGGTAGCTAGTAGCCACATGTGGCTGTTGACGTTTAAATTTAAGTTAATTAAAACTAAAGGAAATTAAACTTTAGTTCTTCAACAGATGAGCCACGTTTCAAGCACTCAGTAGCCACATGCGGACTGGTGGCTGCCATATTGGGTGGTGCAGAATTATAAATTTCCCTCATTGCAGAAACTTCTACAGGAAAGAAAAACTGGAGGCTTTCAGTAGAAGAATTCAGATACGGTGTCTAATTAGTGCAAGTTCCTATCTGCTTCTCCGTGAATCTGCTTCCTTATGGACGAGTAAAGAACTGGCCCAGTTAGAAGCTTCCTTGCACAATTCTTTACTGTTAACATAAAGAAATGACAAACCTCTTAGCCAGTAGTTTCCTCTGACAATGGTTTTACTTGAACTGTGGACTACTTAATAGGTCTTATGTGCCTCATAAGATGTAAAACTTCATGAGGTACATGTGGGAAGGGCAGCTTGTATATTGGTAATTGGTAAGTGGTGCAGAGTTAAAGCGAACAATGCATTGAACAAGACTGGTAAGAAATACAGCAATATATTAGCAATATTTGCATTTGAGTGGTGGGATTACAGGAATTTTCTGGCCCAGCGTTGACTCTATTTTCCAAATGTACATCTTTAATAATAAGGAATACATCTTCAAAGCCTACATGACTAGTGTAACCACTTTACCTCCTCACCAGCGTTGTGACAGAATTTTCAGTTATCAAAAAAATTCTATTTATTTTGGTTCTAGTTCAACGCCTACCATTAATTAGCCAGATACACTGGCCCAAGTCAAATGAGACGACATAGGTGAAGTGCAAAAGCCAAGAATTGTGCATTCCGTGCTGTGGCCCCAGAGCAGCCTGTGTCCCCTGATGCCACTCGATAACTGCCCACTCATCCCCTCCCTGCTAGACGTTGCAGGTGGGTGCTGAGCCTCCTTGGCTGTCACCAGCGCCAGGCACAGAGAGCAGGCCTACTGACCAAATGACTTAGGTGCACCTTTGTGTGCTGATCTGAGCCTTGGCTTCATCTTATTTTCTCTTCCCTCACCAACCCTACTCAACCTTCTTCATTTACTTTGCCCCCTCATGGTATTGGTGGAAGGTGATGCAAAGCCTTTTTGTAGACATTATGGCTGTCATTATGTTAAAGACGTTTCCTTATCTGCAGGTGGTATGCATGCCCATATTAAAATCCCATGGCTGTGCCCACCTGCCCCTGCTCCTGCAATGAGCCCAGCAGGTTCTCAGTGCTTCTAGAGCAGGAGCCTCCCCCAGGGAGCCTCCCCAAGCCTCTTAACCAACCCACAGGGAGTGGGCTACAAGGGCAAATCCAGGAATGCACAGCACCCCGTCTTCTCTGTGAAAGCCTCCTTGGATATGGATGGTCTTCCCCTAACTCCCAGGGACCTCCAGGGCAGCTCTGAGGGGAACAAGACCAGAAACAGTCCACAGAAAGCAGGCTCACAGCTTACCTGAATCCTGATGGCTGTGCTTCAGGTAAGTGGGGTCCAGTCTAAAGGCTCCCGTTAAGTCTGTTCTCTTTTTCACCCTGGTTTTAGAGAACAAATGAAAGGGCTGATAACCAAGTACCCTAGACTGGACCACCTCTCCCCTCTCCCCACCTGCCTCAGCTCAGGCACCTGCTCCCAGCCCTGCCCTGAACACCACTCTGCCTGCACGGCCCTGTCTCTGCTCCAAGTACCTGGGGAGGGCGTCTTAGAATAAAAAATAAATATTTGGTCTTTGTTACCAGTTCCTGGCACACAGCTCCTAAAACCCTTGAGATCTCCTAGTGATAAGGGTTCATTTTGCATGTTAATAAGATAGCTGGCAGCTGGGGTCTCCTCGATGGCTTCCAATCTCCAGGGAGGGTAGGGGGCTGGAGATGAGTTGGCCAGTGATTTAAGCAATCATCCCTACTGAATGAAACTCCGTTAAAAACTCCTAAGTGGCAGGATTGGAGAGCTCTGGGTTGGTAAATGCTTCATGATGCTGGGATGGTGGCATACACAGAGAGGGCATGGAAGCCACGTGACCTACCACCCCACTTGTACTTTGCCATTGCATTTCTTTGTTTGTACTCTTTATAACCTGTAAACCTAAGTAAAATGCTTTTTTGAATTCTGTGAGTTGTTCTAGTAAGTTACTGAACCTGGGGCAAGGGTTATGGGAACCCCCCTGAGTTTGTAGCCACGGTGGACAGAACTGTGGGTAACCTGGAGACCCAACACTGTAACTGGCATTTGAAGTGGGGGCCGGCTGATGGGACTGAGCCCTTAACCCTGTGGAGTCTGACGCTACCTCTAGGTAGTTACAGTCAGAATAGGAGTGAGTTTAGGACACCCAGCTGGTGTCTGCAGAGTTGGAGAATTGGTGTCAAGAGGGAAAACCACAGAGGTTAGCATTTGCTCCTCTCTCTCTTTCCAGGGACAGCACAGTGACTGGCCCTGCTGGCATCAGTAAGTGTGTGTGGGGTGAAAATCCCAAGGGCTAATGAGTGAGAAGGCCAGGATGCCCTGGGCTGCAGACAGGGGTCCTCTTTCACCTGTCTGCACACAGAGCACTCACACTGGTAGTCATTCTGCAGAACTCGGACGCAAACTCTCACTGGGCTGGCCTTTGAAGGGCCTGTGCTTTACGGTAATTGCCATTGCTCTGCTTCATTGGCAGTGTGGTGACACCATCACAAAGCAATTTTGTAGCAAATAAAGTATCCTAAGGGCAAACTAGAGAAGAAATGTTAATCTGACAGTAGCTTAGGCTTGAAAACAAATAAAACGTGAGAGTCCCTGAAAGACAGAACCCAGTGAGCACAAAATAGGATGCTGAGATGTGGCTTACCAAGGAGGTGAGAGAGAGGCTGGATTTATCTATAAATGGTCATTGAGCCTTTATTTTTGTTTTAAGGTTAAAGACAGACAAAGTCAGTAGGAATAATAAGCTGTCTAGTGTATATTCTTTCTTTGACTTGTGGAAGAAAATTGCACCTAATTTTTTGTGTGTATAGGAATTTTCTTGCATCATAGGCATTTTATGGGGAGCCACTGGTTGTGGGGGGAGGTCCTTTGGGTCTCTCTGCATTAGAGAAAGCTCTGTGCCTAGACTTAAAAAGAGGGGACCAAGAGGGATGTGAATATTTATGGCTATCAGTAGAACTCTGCCCTTTGTCCACAAAGATCACACTTTCCCTTCTCATTCTCAGCAGGGGCCTTCCAGCTGTTTTTTAATTTAAAAAATTTTGCACTAATTAAAGCCATACAAAAGATGTAAAGAATAAATCACCACCCCCTGCTTATGAAATAAAACTTAAATTATAAGTATTAATAAAAGTTAAATATTCCTGTCCCTCACCTACTTCCTCTCCCTGTCCCACACAAGAGGCCACAAGGCTGAATTTGTGTTCCTACTCTTACATAGTTCTACAAAATTTTCTCTCCAAATCCCTAAGCAATCTATATTATTTTGCACACTGCTAAACATACTGTACCATAAACTTAAGATGTATTATCTTAAATTTTATAATTCCATGCATGTTTCTATAATTTG
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CCTTTACGACACATGGCCTCTCATTAGTAAGGGAGCTTGTTAAACAAACATAACATCAATAGCAGCATCTGGCAATGATTCACAGAAACCACTGCAAATGAAACAACAACACTCAACAGAGTGCATGCAGAAAGCACTCAGTAAGAAATTGTCGACGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGCAAATCGCTTGAGCTCAGGAGTTCAAGACTAGCTTTGGCAACATGGTGAAACCCCGTCTCTACCAAAAAAAAAAAAAAATACAAAAAATTATCTGGGCCTTGTGCTGTACGTCTGTGGTCCCAGCTACTTGGAAGGCTGAAGTGGGAGGATCACTTGAGCCTGGGAGGTGGAGGCTGCAGAGAGCCAAGGTTGCACCACTGCATTCCAGCTTGGGTGACAGAGCCAAACCCTGTCTCAAAAAAAAAAAATTGTCAAAGAACCAGATGATTGTCATGAATGAAAATGAGGGAATGGCCCACCTTTTTAGTTTCTATTACCGCACCATCTGATACGGTAGCTAGTAGCCACATGTGGCTGTTGACGTTTAAATTTAAGTTAATTAAAACTAAAGGAAATTAAACTTTAGTTCTTCAACAGATGAGCCACGTTTCAAGCACTCAGTAGCCACATGCGGACTGGTGGCTGCCATATTGGGTGGTGCAGAATTATAAATTTCCCTCATTGCAGAAACTTCTACAGGAAAGAAAAACTGGAGGCTTTCAGTAGAAGAATTCAGATACGGTGTCTAATTAGTGCAAGTTCCTATCTGCTTCTCCGTGAATCTGCTTCCTTATGGACGAGTAAAGAACTGGCCCAGTTAGAAGCTTCCTTGCACAATTCTTTACTGTTAACATAAAGAAATGACAAACCTCTTAGCCAGTAGTTTCCTCTGACAATGGTTTTACTTGAACTGTGGACTACTTAATAGGTCTTATGTGCCTCATAAGATGTAAAACTTCATGAGGTACATGTGGGAAGGGCAGCTTGTATATTGGTAATTGGTAAGTGGTGCAGAGTTAAAGCGAACAATGCATTGAACAAGACTGGTAAGAAATACAGCAATATATTAGCAATATTTGCATTTGAGTGGTGGGATTACAGGAATTTTCTGGCCCAGCGTTGACTCTATTTTCCAAATGTACATCTTTAATAATAAGGAATACATCTTCAAAGCCTACATGACTAGTGTAACCACTTTACCTCCTCACCAGCGTTGTGACAGAATTTTCAGTTATCAAAAAAATTCTATTTATTTTGGTTCTAGTTCAACGCCTACCATTAATTAGCCAGATACACTGGCCCAAGTCAAATGAGACGACATAGGTGAAGTGCAAAAGCCAAGAATTGTGCATTCCGTGCTGTGGCCCCAGAGCAGCCTGTGTCCCCTGATGCCACTCGATAACTGCCCACTCATCCCCTCCCTGCTAGACGTTGCAGGTGGGTGCTGAGCCTCCTTGGCTGTCACCAGCGCCAGGCACAGAGAGCAGGCCTACTGACCAAATGACTTAGGTGCACCTTTGTGTGCTGATCTGAGCCTTGGCTTCATCTTATTTTCTCTTCCCTCACCAACCCTACTCAACCTTCTTCATTTACTTTGCCCCCTCATGGTATTGGTGGAAGGTGATGCAAAGCCTTTTTGTAGACATTATGGCTGTCATTATGTTAAAGACGTTTCCTTATCTGCAGGTGGTATGCATGCCCATATTAAAATCCCATGGCTGTGCCCACCTGCCCCTGCTCCTGCAATGAGCCCAGCAGGTTCTCAGTGCTTCTAGAGCAGGAGCCTCCCCCAGGGAGCCTCCCCAAGCCTCTTAACCAACCCACAGGGAGTGGGCTACAAGGGCAAATCCAGGAATGCACAGCACCCCGTCTTCTCTGTGAAAGCCTCCTTGGATATGGATGGTCTTCCCCTAACTCCCAGGGACCTCCAGGGCAGCTCTGAGGGGAACAAGACCAGAAACAGTCCACAGAAAGCAGGCTCACAGCTTACCTGAATCCTGATGGCTGTGCTTCAGGCAAGTGGGGTCCAGTCTAAAGGCTCCCGTTAAGTCTGTTCTCTTTTTCACCCTGGTTTTAGAGAACAAATGAAAGGGCTGATAACCAAGTACCCTAGACTGGACCACCTCTCCCCTCTCCCCACCTGCCTCAGCTCAGGCACCTGCTCCCAGCCCTGCCCTGAACACCACTCTGCCTGCACGGCCCTGTCTCTGCTCCAAGTACCTGGGGAGGGCGTCTTAGAATAAAAAATAAATATTTGGTCTTTGTTACCAGTTCCTGGCACACAGCTCCTAAAACCCTTGAGATCTCCTAGTGATAAGGGTTCATTTTGCATGTTAATAAGATAGCTGGCAGCTGGGGTCTCCTCGATGGCTTCCAATCTCCAGGGAGGGTAGGGGGCTGGAGATGAGTTGGCCAGTGATTTAAGCAATCATCCCTACTGAATGAAACTCCGTTAAAAACTCCTAAGTGGCAGGATTGGAGAGCTCTGGGTTGGTAAATGCTTCATGATGCTGGGATGGTGGCATACACAGAGAGGGCATGGAAGCCACGTGACCTACCACCCCACTTGTACTTTGCCATTGCATTTCTTTGTTTGTACTCTTTATAACCTGTAAACCTAAGTAAAATGCTTTTTTGAATTCTGTGAGTTGTTCTAGTAAGTTACTGAACCTGGGGCAAGGGTTATGGGAACCCCCCTGAGTTTGTAGCCACGGTGGACAGAACTGTGGGTAACCTGGAGACCCAACACTGTAACTGGCATTTGAAGTGGGGGCCGGCTGATGGGACTGAGCCCTTAACCCTGTGGAGTCTGACGCTACCTCTAGGTAGTTACAGTCAGAATAGGAGTGAGTTTAGGACACCCAGCTGGTGTCTGCAGAGTTGGAGAATTGGTGTCAAGAGGGAAAACCACAGAGGTTAGCATTTGCTCCTCTCTCTCTTTCCAGGGACAGCACAGTGACTGGCCCTGCTGGCATCAGTAAGTGTGTGTGGGGTGAAAATCCCAAGGGCTAATGAGTGAGAAGGCCAGGATGCCCTGGGCTGCAGACAGGGGTCCTCTTTCACCTGTCTGCACACAGAGCACTCACACTGGTAGTCATTCTGCAGAACTCGGACGCAAACTCTCACTGGGCTGGCCTTTGAAGGGCCTGTGCTTTACGGTAATTGCCATTGCTCTGCTTCATTGGCAGTGTGGTGACACCATCACAAAGCAATTTTGTAGCAAATAAAGTATCCTAAGGGCAAACTAGAGAAGAAATGTTAATCTGACAGTAGCTTAGGCTTGAAAACAAATAAAACGTGAGAGTCCCTGAAAGACAGAACCCAGTGAGCACAAAATAGGATGCTGAGATGTGGCTTACCAAGGAGGTGAGAGAGAGGCTGGATTTATCTATAAATGGTCATTGAGCCTTTATTTTTGTTTTAAGGTTAAAGACAGACAAAGTCAGTAGGAATAATAAGCTGTCTAGTGTATATTCTTTCTTTGACTTGTGGAAGAAAATTGCACCTAATTTTTTGTGTGTATAGGAATTTTCTTGCATCATAGGCATTTTATGGGGAGCCACTGGTTGTGGGGGGAGGTCCTTTGGGTCTCTCTGCATTAGAGAAAGCTCTGTGCCTAGACTTAAAAAGAGGGGACCAAGAGGGATGTGAATATTTATGGCTATCAGTAGAACTCTGCCCTTTGTCCACAAAGATCACACTTTCCCTTCTCATTCTCAGCAGGGGCCTTCCAGCTGTTTTTTAATTTAAAAAATTTTGCACTAATTAAAGCCATACAAAAGATGTAAAGAATAAATCACCACCCCCTGCTTATGAAATAAAACTTAAATTATAAGTATTAATAAAAGTTAAATATTCCTGTCCCTCACCTACTTCCTCTCCCTGTCCCACACAAGAGGCCACAAGGCTGAATTTGTGTTCCTACTCTTACATAGTTCTACAAAATTTTCTCTCCAAATCCCTAAGCAATCTATATTATTTTGCACACTGCTAAACATACTGTACCATAAACTTAAGATGTATTATCTTAAATTTTATAATTCCATGCATGTTTCTATAATTTG
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Task1_train_11186
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A variant was discovered in gene DDC (dopa decarboxylase), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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TCAGCCCTGCCCTGCTCAAGGGTGGTTCTAGGGCTTCCTTTGTGGAAGGCATCTGAGGACGCCTGCCCCTTGCAAAACAAAAGCATGTAGGGAGAGCCACTTGTTCCCGCCAGAGCCTGTGGATGCTCTGCCTGGTCCTTCCGAACTCCAGCCACCTTAGAGGATTTTCCCCACTGACCAAAAACCTCAGCAGAGCGGATTTACATTTCAATCAAAATTACCCCTCGAATAAAGGGACCTCTGGCACACGGTGCAAACTGTCCTCACTGTGTTCCACCTTGGGTGAAACAGAAAAACACAACCACAAGAATACAAAAGAATACTCACATTCATAACGGCCATGTCTTTCATAAATACTTATTTCAGACAAAATTAAGTCTGAAATGCCCACATACCAACTGGTTTTAAAATTATATAGCAGAAGTTTGGGGAAAAAGACTGACAAAAAATAATTTGATTTGTATACAAGTAAAGGACTAGAAATGTGGTTAGCCTTAAAAAAAAAAACAGGAAAAGGTCAAACGGGTATTTTGGTAACCTTGAGAGCTGACATTAGTTGTTTTGTATAAAAGCTGCTTTCCTCATGCTTAGGAGGAAAGTGAAAAGTTATTCACTTAATTACATACTGAACAATTTTGCAAAGCCTTCTGAATATTTGGAAAATTTTGCAGTTTTGCATACTGTACAAAATTCATGCAAATCCTCCTGGCCCTATGATCAATCAATCAACTTCTTACTTTAAAACTTTAGAGAAACTAGTTTCTAGTGTCCCTGTATCACTGCCCATCATCATTATTTCTTTAAACATTGTGTAGGTGGTGTAATATCACCCACTTTAATGCTTTAGTTCTTTTTCTTATTCTAAATATCACCAAGGTATTATCATGCTGTTATTAAGAATTTCCGGCCAGGCACCGTGGCTTACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGAGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGCCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGGCGCCTGTTGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATGGCATGAACCTGGGAAGCGGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGACACTGTCTCAAAAAAAAGAAAGAAAGAAAGAAAAGATTTTGAGCCAAGATCGCACCACTGCACTCCAACCCGGGCGACAGAGTGAGACACTGTCTCGAAAAAAAAAAAAGAGAGGAAGAAAAGAATTTCCAGGGAAATTCTTAGGAAACATGGTTACTATTATTTTTCTTTCGCGAATACTTTTTTTTTTGAGACAGAGTCTTGTCGCCAAGGCTGGATTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACTACCACACCCAGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCTTAGCAAATACTTTTAAGCATTTGGACTCAGATTGCTTAAACTTAGCATTACACTAAGACTGGTTACGAATCTAAGAATGAAAACACAAGCTACTGAATTAGAAGTGTGTACTTGCATTTGTTTTCTGTCAATGCTGGATAAATCAAATAAAAAATTGTCCTTTTTAGGCTTCTCATTTCTTATGCCAGTATGTTGCAATGATATTCCCTAGATAAAAGTTTCCAGTGAGGCTAAGAATTAGCAATAATTCCATCAAGGGTTCAGAAAAGGCAGCAAGCAGTGAGCTAAGTGACTATTGCACCCCTTTGGCTCTGGCATCTTCCCTGCCAGCTTCTTTCACTGTCACCTCGGACAGGCAACTGACATCTGTGAGCAGGGAAACTTACCACATGGCAGAACAGTCAAAATTCACCAATAGCCATTTGTGGGGATTAAAGTTGAATGAATCTGCAAACTGCCAAAGAACAAGAGTAAGAAAAAGAAAACATTTTCTTTATAAATGTTTAATTATAAAGAAGACCCCATACATGATAATAAAAGTTTATGGCACAACTAATCCACAGTGGTAGGGGCCAGGTAGGGTTGCCCAGGGGAGTAGTAACTTGTAGTGGGTAGGGGAGTCTTCTGGAGTGCTGGAATTGTTCTACTCTTGATCTGGGTGGTAAGTACATGGGGGTGGGTATATGTATTTAGAGTTGATTTGTATGTTTTGCTATATCTAGATTATACTCTCATAAAATGGAACAAGAATTTTAAAATTAAAAGTTTATATTCCCAAATGAAAAGCATTTTCAAATTTACATAATCTAATGTGACATAAAATGTATCCATATTATATTTTAAATTACTGGAATATTTGGAAAAATCAGAATTGTCCTTCACAAGCACAACGTACAGGAATTGTACTGATTTGGCCTGTGGAATACTTCATGCTTGAAGTTCCTTCCACTTGCTGAGCTAGCAAAGTTCTCAGACTACACGTGTCATGATAAACAGTGGGAAAGAGGAAATTTTATTACTAATCTACAGTAGATAGGGGTAAACCCAGTTTTCATTTAATTGATGGGTTCTTTTGCCAGCATTGCTGTAACATATCAACAATTCTCCTCATTTACCTAAATGCTTCTCTCTCTTTTTTTTTTTTTGAGCGACAGGGTCTTACTTTGTTGCCCAGGCTGGACATGAACACAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCCTGCCTTAGCTTCCTAAGTAGCTGGGACTACAGGCGTGTGCCACCACACACAGCTAATTTTTAAAATTTTGTTTGTAGAGACAGTGTGTCTCATTACGTTGCCCAGGCTGATCTCGAACTCTTGGGCTTAAGCCGTCCTCTTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACTGCACCCCGACCAGCTCCTTTATTTTTAAAGTTCATTGTATTCCTAACAGCTACAGGCTCCCGTAGCTGGAAGATCCTGGGTAAAAACTGTGAACAACCGGCTCTGGCTGCATGCATCAGTGTTAGGGGCTACCTTATTTTCAAGGAGAAAATAAGAGGTTTAAACCACCAAGAGTGGCAGAGGAGGACACTCTGCATTTTCCCTGAGCTGTCATAAATGGTGCTTTCTTTTTCAAATGCATGTCCTGGTTTATCACCTGACTGGTGAACAGGAACAGGGTCCACCTTAATGGCCAGGGATTTGGCCATGCGGCTGGATTCATAATTGATACCGAAATAAAGGTGGCTGTTGCAGTGAGGCGCCAGTCTGGCCGACTCTCCTACTGGGAAACTTTTCAGTCTTCCCAAGGCCCTAGGGCACCTCCTGTCTACTTGGTTTCAGGGATGTGCACCGAGGAGGCAGCAGAAGCTTGAGGGACCTGGGGGGCGTCCTGGGAGGCATTTGGTTGGTGGATGACAACTTTCCACTGCTCTGGAGACCCAGGTTCATTTCCTTCTAGGTTTTAATAAAAGTAATTTTGAGAAAAGGACAGGAAATTACAGCAAGTTTCATTTGTTGATAAAAGGAGACAAAAGGTTAAAGAGGAGCTCTGTTTGCTAGGAGTCTTATGAGTTCCCTCCTATGGGGCTGATCTGTTTAAACTTCTCTCATTACCCAGCAGTGATATTTTCCTCCTGCCAACCGGAGAGAAAGGCTCTTATCTCCAAGGGCAGGGCCACAACAGGATATTGCAGCCTCCTTATCTGCCCCACTGAGACGCACAGCCCTCAGCTGGGCATGGAAAGAGTCGGGAGCAATAATGCAAGAAAAATGGCAGTGACTCATTGTACAGCATGAAATCCTGTCTGTTGCTGATAGGATCTGGCTGGAAAGCCCATTGCTGTGGTGGTCTGACAATGAGGCACCCTTCTATGAAAGATGAAACCTCAAGTTGTCAGTTCTTGGGGAAAAGAAGAGCAGTGGTAGGAAAAGATCACG
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TCAGCCCTGCCCTGCTCAAGGGTGGTTCTAGGGCTTCCTTTGTGGAAGGCATCTGAGGACGCCTGCCCCTTGCAAAACAAAAGCATGTAGGGAGAGCCACTTGTTCCCGCCAGAGCCTGTGGATGCTCTGCCTGGTCCTTCCGAACTCCAGCCACCTTAGAGGATTTTCCCCACTGACCAAAAACCTCAGCAGAGCGGATTTACATTTCAATCAAAATTACCCCTCGAATAAAGGGACCTCTGGCACACGGTGCAAACTGTCCTCACTGTGTTCCACCTTGGGTGAAACAGAAAAACACAACCACAAGAATACAAAAGAATACTCACATTCATAACGGCCATGTCTTTCATAAATACTTATTTCAGACAAAATTAAGTCTGAAATGCCCACATACCAACTGGTTTTAAAATTATATAGCAGAAGTTTGGGGAAAAAGACTGACAAAAAATAATTTGATTTGTATACAAGTAAAGGACTAGAAATGTGGTTAGCCTTAAAAAAAAAAACAGGAAAAGGTCAAACGGGTATTTTGGTAACCTTGAGAGCTGACATTAGTTGTTTTGTATAAAAGCTGCTTTCCTCATGCTTAGGAGGAAAGTGAAAAGTTATTCACTTAATTACATACTGAACAATTTTGCAAAGCCTTCTGAATATTTGGAAAATTTTGCAGTTTTGCATACTGTACAAAATTCATGCAAATCCTCCTGGCCCTATGATCAATCAATCAACTTCTTACTTTAAAACTTTAGAGAAACTAGTTTCTAGTGTCCCTGTATCACTGCCCATCATCATTATTTCTTTAAACATTGTGTAGGTGGTGTAATATCACCCACTTTAATGCTTTAGTTCTTTTTCTTATTCTAAATATCACCAAGGTATTATCATGCTGTTATTAAGAATTTCCGGCCAGGCACCGTGGCTTACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGAGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGCCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGGCGCCTGTTGTCCCAGCTACTCGGGAGGCTGAGGCACGAGAATGGCATGAACCTGGGAAGCGGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAATGAGACACTGTCTCAAAAAAAAGAAAGAAAGAAAGAAAAGATTTTGAGCCAAGATCGCACCACTGCACTCCAACCCGGGCGACAGAGTGAGACACTGTCTCGAAAAAAAAAAAAGAGAGGAAGAAAAGAATTTCCAGGGAAATTCTTAGGAAACATGGTTACTATTATTTTTCTTTCGCGAATACTTTTTTTTTTGAGACAGAGTCTTGTCGCCAAGGCTGGATTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACTACCACACCCAGCTAATTTTTTGTATTTTTAGTAGACACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCTTAGCAAATACTTTTAAGCATTTGGACTCAGATTGCTTAAACTTAGCATTACACTAAGACTGGTTACGAATCTAAGAATGAAAACACAAGCTACTGAATTAGAAGTGTGTACTTGCATTTGTTTTCTGTCAATGCTGGATAAATCAAATAAAAAATTGTCCTTTTTAGGCTTCTCATTTCTTATGCCAGTATGTTGCAATGATATTCCCTAGATAAAAGTTTCCAGTGAGGCTAAGAATTAGCAATAATTCCATCAAGGGTTCAGAAAAGGCAGCAAGCAGTGAGCTAAGTGACTATTGCACCCCTTTGGCTCTGGCATCTTCCCTGCCAGCTTCTTTCACTGTCACCTCGGACAGGCAACTGACATCTGTGAGCAGGGAAACTTACCACATGGCAGAACAGTCAAGATTCACCAATAGCCATTTGTGGGGATTAAAGTTGAATGAATCTGCAAACTGCCAAAGAACAAGAGTAAGAAAAAGAAAACATTTTCTTTATAAATGTTTAATTATAAAGAAGACCCCATACATGATAATAAAAGTTTATGGCACAACTAATCCACAGTGGTAGGGGCCAGGTAGGGTTGCCCAGGGGAGTAGTAACTTGTAGTGGGTAGGGGAGTCTTCTGGAGTGCTGGAATTGTTCTACTCTTGATCTGGGTGGTAAGTACATGGGGGTGGGTATATGTATTTAGAGTTGATTTGTATGTTTTGCTATATCTAGATTATACTCTCATAAAATGGAACAAGAATTTTAAAATTAAAAGTTTATATTCCCAAATGAAAAGCATTTTCAAATTTACATAATCTAATGTGACATAAAATGTATCCATATTATATTTTAAATTACTGGAATATTTGGAAAAATCAGAATTGTCCTTCACAAGCACAACGTACAGGAATTGTACTGATTTGGCCTGTGGAATACTTCATGCTTGAAGTTCCTTCCACTTGCTGAGCTAGCAAAGTTCTCAGACTACACGTGTCATGATAAACAGTGGGAAAGAGGAAATTTTATTACTAATCTACAGTAGATAGGGGTAAACCCAGTTTTCATTTAATTGATGGGTTCTTTTGCCAGCATTGCTGTAACATATCAACAATTCTCCTCATTTACCTAAATGCTTCTCTCTCTTTTTTTTTTTTTGAGCGACAGGGTCTTACTTTGTTGCCCAGGCTGGACATGAACACAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCCTGCCTTAGCTTCCTAAGTAGCTGGGACTACAGGCGTGTGCCACCACACACAGCTAATTTTTAAAATTTTGTTTGTAGAGACAGTGTGTCTCATTACGTTGCCCAGGCTGATCTCGAACTCTTGGGCTTAAGCCGTCCTCTTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACTGCACCCCGACCAGCTCCTTTATTTTTAAAGTTCATTGTATTCCTAACAGCTACAGGCTCCCGTAGCTGGAAGATCCTGGGTAAAAACTGTGAACAACCGGCTCTGGCTGCATGCATCAGTGTTAGGGGCTACCTTATTTTCAAGGAGAAAATAAGAGGTTTAAACCACCAAGAGTGGCAGAGGAGGACACTCTGCATTTTCCCTGAGCTGTCATAAATGGTGCTTTCTTTTTCAAATGCATGTCCTGGTTTATCACCTGACTGGTGAACAGGAACAGGGTCCACCTTAATGGCCAGGGATTTGGCCATGCGGCTGGATTCATAATTGATACCGAAATAAAGGTGGCTGTTGCAGTGAGGCGCCAGTCTGGCCGACTCTCCTACTGGGAAACTTTTCAGTCTTCCCAAGGCCCTAGGGCACCTCCTGTCTACTTGGTTTCAGGGATGTGCACCGAGGAGGCAGCAGAAGCTTGAGGGACCTGGGGGGCGTCCTGGGAGGCATTTGGTTGGTGGATGACAACTTTCCACTGCTCTGGAGACCCAGGTTCATTTCCTTCTAGGTTTTAATAAAAGTAATTTTGAGAAAAGGACAGGAAATTACAGCAAGTTTCATTTGTTGATAAAAGGAGACAAAAGGTTAAAGAGGAGCTCTGTTTGCTAGGAGTCTTATGAGTTCCCTCCTATGGGGCTGATCTGTTTAAACTTCTCTCATTACCCAGCAGTGATATTTTCCTCCTGCCAACCGGAGAGAAAGGCTCTTATCTCCAAGGGCAGGGCCACAACAGGATATTGCAGCCTCCTTATCTGCCCCACTGAGACGCACAGCCCTCAGCTGGGCATGGAAAGAGTCGGGAGCAATAATGCAAGAAAAATGGCAGTGACTCATTGTACAGCATGAAATCCTGTCTGTTGCTGATAGGATCTGGCTGGAAAGCCCATTGCTGTGGTGGTCTGACAATGAGGCACCCTTCTATGAAAGATGAAACCTCAAGTTGTCAGTTCTTGGGGAAAAGAAGAGCAGTGGTAGGAAAAGATCACG
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Task1_train_11187
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A mutation in DDC (dopa decarboxylase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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GGCAGGAGAATCACTTGAACCCAGGAGGCAGATGTTGCAGTGAGCTGAGATTGTGCCACTCCAGCCTGGGCCACAGAGCAAGACTCCATCTCAAAAATAAAGAAAAAAAAAGGAATTGTCAAAACTGACCTCCCCTATGCATTCTGCCAATGGATGAAAGGGTTTTGGCATTCACCCATGTCAGCTCCTTCTGCACAACCCCAAAAGCAACCTCAGTGTTTCAAACCAAACAAATCATAAATCAAGCTCTGTGCACAGCCTCCAGCCTCTACAAAGAAGAGGGGGCCCCAGATAGCAGGAAGGCCTGAGCTGGATCCATCCAGGGGACTGTGACTGGCAGGTGACACACGCTGGCTGTCATCTCCATGGTCCAGCGGGCAGCCCACACTTGGCCCAGGGGACAGCAGGCCATGTGGGCTCTATCCAGCAGAAGACCTCGGCCCTTTAAATCCGATAGCCCTAGGGAATTACATCAGCCAGCTACTGGCCAGGACATTCAGTTCTTAGCCTGACATCTGAGTCAGAGGACTCCAAGTTGCTTGGCTGAGCTGATGAAGGTTTGCAGCTGATGAGGCCAATGCTGTGGCTGCAGTCCTGAGTCAGCCAGTTCTATCCCTTCTCCCCAGCCCGGGGCTGTGCACGACCACTTCCCGCCAGTTGTTCTTACAGCTGTGTGCCACAGAGCATAAACGGTGGAGCATAAACCCTGTGAGAGCGGGTAAGTCTATGCCACCCACCTCCCAGTAGTTCCCAGCACTGCATTCCTTGCTGTGCAGCAATGCACTCTACCTTTGGGATGGTGCATTTTCCCTGCATTAATTTATCCTCTGAATAATCGTGTGGGGAAATCTTGTTATTTTATGAGCACAAGTGGGGTTTTTCTCTTCACTTTACAGACAGCATAAATGAAGCTCAGAATGTAAGATTCAGGGGTGGATCCTGGGCTGCACCCTAGCTTCCTTGTCACCAATTTCATGTCTAGCTCACACAAAGGCACCTGCACCTTCAGCACCGGCCTTCCCCAGCTGCTGACCCCAAGAAGGGAGGCCAACGCCCAGGAGAGGAGGGTCCACTCCTCTGAGTATGGACTATGGGTGACTCTTGGGTTAGGAGAGGTGAGAACTGTGCTTGGCTTGTGCAGACTAAGGAGGAAGCCAATTCCCTGGTAGCTGTTGTGGGATCTGGCACAGGCCACAGGTATGTGATCTGAAGGCCCCACTTGGGCAGCTCCACTCACAGCCGAGCGGTCAGAACATTCCCATCCTAGAGGGACAGAGAAAGGGGGAGCCCCCTGAGCCAGTGTCCCTGCCCTACGAGGGTTCTTCTGTCCACAGAAGCAGCTTCAAGACCTGCTGAGTTCCCAGAGCTACATGTCAAAGGTGAAACTCTAGAAACAGAGCTGCTCATTCACATTCACCTTTTGAAAACACAGCATCCTAGTCTCAATGAGAAAACCTAGGATCTCTGAATGAGGAAGGGAGGAGGTGAGAGTGACCAGGAAAACATCTGAAGCACAGATTATTCCTTGGCGAAATCCAGTTTCATTGTGTTGATTTGCTAAACTACCTTCAGCAATTTTCTTAACTGCATTCAGTAATTCCAAAAAAAGGTGAAAAAGGGATATACCAAAGAATTAAATTCAAGTGTGGACAATTCTCATATCAGGTGTATGCACGACCCACATATGAAGGTGGTTACTCTAAGATTTTGAAGAGTTTATTCTCCTCAACAGGGCCAACATAACCTGCAATTTTACATAACTTCTATATTGCTCGGATTTTTTTTCTTACAAATAGTGTGTTGGTAGAACTAAGCTCAGTTCTTTTCCAATTAGCCCAAATTCTGAGTTTGTGGAGTTCAAGCTAATGAGGTTTGTGTTATTGCAAATACGAGAAGAGCTGGGCAAACCATCACAATATGAAGTTAACGACAAGAAAGAGATCAACGAGGAAGGTTTGCTAAATTCCCCGTGTACAGAGAACATTTTCCAAAAAGAAAATGGAATCGGATACTTACAGATAGGACCGACTTCTAAGAGATTGTCAAAGGAGCAGCATGTTGTGGTCCCCAGGGTGGCAACCATCTAGAGGGTAAAAAGCAGACAGCCTTTTATTCCCCAGGTGCCAGTCACCGCTGTAACCTCCACACAAGCAACTGCTGCCCCATGGTCCAACCTGGGGCCATGAGCCGAGATCCCAATGAATGTCTGCTACATGGAAACGTAAGCCCATGGATGCACATTGAATCTTTGGGTGAAAGCATCATAACAGGTTAAGAGAAACAGATTTGCAGACAGAAAACTAAGCTCTGAGGTTAGAAACCGGGAAGTTGCAAAAGATTTTCCAGGGTGCCTTGGGGCAGACATGAAGCAATCTACCACCTGGACAATGATACCTATATTCTACTTTAGTAAATATACATATACTATATTCTACTTTATTAAATATACATATATATGTATGTGTGTATATTTTTGTTAAATTTTAATTAACGTTCTATGTAACATTAGTGTAACTATGTTCTTATATTCCATATATACATTTTAATTTAATTATAATCTAATTAAATTTATAATTAAGTTATAATTAAAATATACACAAGTGTATATATTTTATTTTCTATATATATATGTGTGTGTATATATATACATATATAGAGAATGTAAGAACATAGTTACTACTATGGAGCAGAAGCCTGGGATTTTTTCCTAGTTTGGGGGGGTGTGTGTGTGTCTGTGTGTGTGCACGTGTGTGTGTGCATACACCCATGTGCAATGCACAGAGCAGAGCAAGCGCAGTAGAGATGAGTCTCCCTCCAGCAGGGCCCAGACTGCCCAAGGCACTCATGGAATGCTTCTTTCAGAACAGACTTTGGCATCAGTTAAGAGTCACACTAGGATTTTGAGCAAGAGTATCATTTACCAGCTTTAATCCGCTGCCTTTCTCTTTCTGAATGATACTGTTCCCAAAGATTAATTAAATCCTCAGGAGGTCATGAGAAAACACTGCTGACATTGAAAATAATTTTAAAAGGGATGTTCTGAGAAAGCATTGAGTGCTGTCAGTCACACAACCCAGAAAATACGGGCTGGGAGTCACTGCGGCCTCTCCCGAGCTCTGAGGACCTTGTGGTGCCACGATCGCACTGGCACAGCCTGACTGTGTTGTCCCCACACACATGTCTGTCTCTCCCTCCAGACCCATGATGCTCCCAAAGCCAGGGACCCTGTCTCATTGTTTTGTGTTGGGCTGAGCATTTGCACTTTGCTGGACATTGCATAGATGCTGAAACCTATTGCTGAATTGAAACAGCTCTCTCCAAAGGATCAAAACGCACATTATGTTTACAAAACCAAAGGGCCTAATTGATTTATGGATGTCATGCAGTCTAGATAATGAAATTTCTTTGCAGATGCGACAAGAGTGTGGAATAGAATTAAATTTGTGTGACCTTTATTGAGCCCCCTGTAAAGTCTTAGCAATGCCATGTGTCCTGAGGATAAAGATAGAGAGGTCAGAAACTCGTATGTGAGAACCCCAGTTCGAGACCTTTGTGGCTCCATTTCACCTATGACTGCCTCGCATTTCACCTGGAAACCAACTTTTCCTTTTAGAGAGAGACAAAGTGTTCATGCCCAGGTAGCACAGAGTCAGCCTGCAGAAGGTTCGTCTCACCAGCTTTGCCCTGCTCCTCTCACAGGTGGCTGGGCTGGACAAGGTACTTCTCAGACAGAGCGATGCCTGCTCAGGGACCAGAGTTTTCCATGCCAAACCCCGGGGCGTGGGCCCAAAACAGGTCCTGGCTGGACTCTGGAAGGGCTCTCTGTGTCACTGAGCTATGCCCAAGGGAGTCAGTCCCCCAAGGGGCTACCCTCAGGCGCAGGAGGGGCAGTCTGTTTAAATGTAGGCTTTCTTCTTGTTCAGGATGGTGAGCCCAACAAGTCAGGAGATGACTGCCATTAAAAACAGCTTGTTCCTCACAGTCCCCAAGGGGAGGGGGACATGGGGAAGCACGAGGATCAGTTGGGCAGCAGAGGGGTGGGGGAAAAACAGCGGCAAGGGCCTGTGTTGTGGTTTCCACAGGAAGAACCAGGCAG
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GGCAGGAGAATCACTTGAACCCAGGAGGCAGATGTTGCAGTGAGCTGAGATTGTGCCACTCCAGCCTGGGCCACAGAGCAAGACTCCATCTCAAAAATAAAGAAAAAAAAAGGAATTGTCAAAACTGACCTCCCCTATGCATTCTGCCAATGGATGAAAGGGTTTTGGCATTCACCCATGTCAGCTCCTTCTGCACAACCCCAAAAGCAACCTCAGTGTTTCAAACCAAACAAATCATAAATCAAGCTCTGTGCACAGCCTCCAGCCTCTACAAAGAAGAGGGGGCCCCAGATAGCAGGAAGGCCTGAGCTGGATCCATCCAGGGGACTGTGACTGGCAGGTGACACACGCTGGCTGTCATCTCCATGGTCCAGCGGGCAGCCCACACTTGGCCCAGGGGACAGCAGGCCATGTGGGCTCTATCCAGCAGAAGACCTCGGCCCTTTAAATCCGATAGCCCTAGGGAATTACATCAGCCAGCTACTGGCCAGGACATTCAGTTCTTAGCCTGACATCTGAGTCAGAGGACTCCAAGTTGCTTGGCTGAGCTGATGAAGGTTTGCAGCTGATGAGGCCAATGCTGTGGCTGCAGTCCTGAGTCAGCCAGTTCTATCCCTTCTCCCCAGCCCGGGGCTGTGCACGACCACTTCCCGCCAGTTGTTCTTACAGCTGTGTGCCACAGAGCATAAACGGTGGAGCATAAACCCTGTGAGAGCGGGTAAGTCTATGCCACCCACCTCCCAGTAGTTCCCAGCACTGCATTCCTTGCTGTGCAGCAATGCACTCTACCTTTGGGATGGTGCATTTTCCCTGCATTAATTTATCCTCTGAATAATCGTGTGGGGAAATCTTGTTATTTTATGAGCACAAGTGGGGTTTTTCTCTTCACTTTACAGACAGCATAAATGAAGCTCAGAATGTAAGATTCAGGGGTGGATCCTGGGCTGCACCCTAGCTTCCTTGTCACCAATTTCATGTCTAGCTCACACAAAGGCACCTGCACCTTCAGCACCGGCCTTCCCCAGCTGCTGACCCCAAGAAGGGAGGCCAACGCCCAGGAGAGGAGGGTCCACTCCTCTGAGTATGGACTATGGGTGACTCTTGGGTTAGGAGAGGTGAGAACTGTGCTTGGCTTGTGCAGACTAAGGAGGAAGCCAATTCCCTGGTAGCTGTTGTGGGATCTGGCACAGGCCACAGGTATGTGATCTGAAGGCCCCACTTGGGCAGCTCCACTCACAGCCGAGCGGTCAGAACATTCCCATCCTAGAGGGACAGAGAAAGGGGGAGCCCCCTGAGCCAGTGTCCCTGCCCTACGAGGGTTCTTCTGTCCACAGAAGCAGCTTCAAGACCTGCTGAGTTCCCAGAGCTACATGTCAAAGGTGAAACTCTAGAAACAGAGCTGCTCATTCACATTCACCTTTTGAAAACACAGCATCCTAGTCTCAATGAGAAAACCTAGGATCTCTGAATGAGGAAGGGAGGAGGTGAGAGTGACCAGGAAAACATCTGAAGCACAGATTATTCCTTGGCGAAATCCAGTTTCATTGTGTTGATTTGCTAAACTACCTTCAGCAATTTTCTTAACTGCATTCAGTAATTCCAAAAAAAGGTGAAAAAGGGATATACCAAAGAATTAAATTCAAGTGTGGACAATTCTCATATCAGGTGTATGCACGACCCACATATGAAGGTGGTTACTCTAAGATTTTGAAGAGTTTATTCTCCTCAACAGGGCCAACATAACCTGCAATTTTACATAACTTCTATATTGCTCGGATTTTTTTTCTTACAAATAGTGTGTTGGTAGAACTAAGCTCAGTTCTTTTCCAATTAGCCCAAATTCTGAGTTTGTGGAGTTCAAGCTAATGAGGTTTGTGTTATTGCAAATACGAGAAGAGCTGGGCAAACCATCACAATATGAAGTTAACGACAAGAAAGAGATCAACGAGGAAGGTTTGCTAAATTCCCCGTGTACAGAGAACATTTTCCAAAAAGAAAATGGAATCGGATACTTACAGATAGGACCGACTTCTAAGAGATTGTCAAAGAAGCAGCATGTTGTGGTCCCCAGGGTGGCAACCATCTAGAGGGTAAAAAGCAGACAGCCTTTTATTCCCCAGGTGCCAGTCACCGCTGTAACCTCCACACAAGCAACTGCTGCCCCATGGTCCAACCTGGGGCCATGAGCCGAGATCCCAATGAATGTCTGCTACATGGAAACGTAAGCCCATGGATGCACATTGAATCTTTGGGTGAAAGCATCATAACAGGTTAAGAGAAACAGATTTGCAGACAGAAAACTAAGCTCTGAGGTTAGAAACCGGGAAGTTGCAAAAGATTTTCCAGGGTGCCTTGGGGCAGACATGAAGCAATCTACCACCTGGACAATGATACCTATATTCTACTTTAGTAAATATACATATACTATATTCTACTTTATTAAATATACATATATATGTATGTGTGTATATTTTTGTTAAATTTTAATTAACGTTCTATGTAACATTAGTGTAACTATGTTCTTATATTCCATATATACATTTTAATTTAATTATAATCTAATTAAATTTATAATTAAGTTATAATTAAAATATACACAAGTGTATATATTTTATTTTCTATATATATATGTGTGTGTATATATATACATATATAGAGAATGTAAGAACATAGTTACTACTATGGAGCAGAAGCCTGGGATTTTTTCCTAGTTTGGGGGGGTGTGTGTGTGTCTGTGTGTGTGCACGTGTGTGTGTGCATACACCCATGTGCAATGCACAGAGCAGAGCAAGCGCAGTAGAGATGAGTCTCCCTCCAGCAGGGCCCAGACTGCCCAAGGCACTCATGGAATGCTTCTTTCAGAACAGACTTTGGCATCAGTTAAGAGTCACACTAGGATTTTGAGCAAGAGTATCATTTACCAGCTTTAATCCGCTGCCTTTCTCTTTCTGAATGATACTGTTCCCAAAGATTAATTAAATCCTCAGGAGGTCATGAGAAAACACTGCTGACATTGAAAATAATTTTAAAAGGGATGTTCTGAGAAAGCATTGAGTGCTGTCAGTCACACAACCCAGAAAATACGGGCTGGGAGTCACTGCGGCCTCTCCCGAGCTCTGAGGACCTTGTGGTGCCACGATCGCACTGGCACAGCCTGACTGTGTTGTCCCCACACACATGTCTGTCTCTCCCTCCAGACCCATGATGCTCCCAAAGCCAGGGACCCTGTCTCATTGTTTTGTGTTGGGCTGAGCATTTGCACTTTGCTGGACATTGCATAGATGCTGAAACCTATTGCTGAATTGAAACAGCTCTCTCCAAAGGATCAAAACGCACATTATGTTTACAAAACCAAAGGGCCTAATTGATTTATGGATGTCATGCAGTCTAGATAATGAAATTTCTTTGCAGATGCGACAAGAGTGTGGAATAGAATTAAATTTGTGTGACCTTTATTGAGCCCCCTGTAAAGTCTTAGCAATGCCATGTGTCCTGAGGATAAAGATAGAGAGGTCAGAAACTCGTATGTGAGAACCCCAGTTCGAGACCTTTGTGGCTCCATTTCACCTATGACTGCCTCGCATTTCACCTGGAAACCAACTTTTCCTTTTAGAGAGAGACAAAGTGTTCATGCCCAGGTAGCACAGAGTCAGCCTGCAGAAGGTTCGTCTCACCAGCTTTGCCCTGCTCCTCTCACAGGTGGCTGGGCTGGACAAGGTACTTCTCAGACAGAGCGATGCCTGCTCAGGGACCAGAGTTTTCCATGCCAAACCCCGGGGCGTGGGCCCAAAACAGGTCCTGGCTGGACTCTGGAAGGGCTCTCTGTGTCACTGAGCTATGCCCAAGGGAGTCAGTCCCCCAAGGGGCTACCCTCAGGCGCAGGAGGGGCAGTCTGTTTAAATGTAGGCTTTCTTCTTGTTCAGGATGGTGAGCCCAACAAGTCAGGAGATGACTGCCATTAAAAACAGCTTGTTCCTCACAGTCCCCAAGGGGAGGGGGACATGGGGAAGCACGAGGATCAGTTGGGCAGCAGAGGGGTGGGGGAAAAACAGCGGCAAGGGCCTGTGTTGTGGTTTCCACAGGAAGAACCAGGCAG
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Task1_train_11188
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A sequence alteration has been identified in DDC (dopa decarboxylase) on Chromosome 7. Is it disease-inducing or harmless?
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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ACATTTTCAGTGATGTTTCCTGCATTGTTTTCATTCTTGAAACCTAAAAGAGTGTGTTTTGACAGATTTATTTTTCCCTAGACAGAGTATTCTGAGTCTTAATATTGACACTATAGGTTCAAAGAAATTCACCTTATTTAAATAGAATCTATTCAAATTGTACTGAAATTGTTTGTGGGAATTTTAAGGGAGATCTTTCTTTCTACCTGAATGATCTTTCTTCCAAATCTTTATTTGTTTGACAAATATTTATCGAGCTTCTGTTCAGTGCCAGGCACTGTTTCAGGAGCTAGGGATAAGGCAGGGATTCAAATGGACCTTACCTCCCCGCACATTCTGTTGGGAAGAAGGAAGCAGTAAACACATATAGGAACAAACCTGTATGGCCTGTGGAGATGAACGCAACGGAGAAAGATAAGACTTTTGGGATAAGATGGCAGGTACACCTTGATCCACTGGCAGACTCTTTTTGCATCCTTCAAAATGTCTTGGCTGTCACCTTGCTCTGCGTGCTAACTTTGAGCCATGTCAGTTCTTCCACATTACACTGTGGAATTGACTTGAATTGACAAAACAAAAAAAAAAATGGAGGTAAAAAGCGTTTCTCAAAGATTAATTTTTTTTGAGACAGAGTCTTGCTCTGTCACACAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAAGAATGCGCCACCATGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCTTATTGGCCAGGAGCCACAAGTGCTGCCGAACTTACAAAGAAAGGAATCAGGCCAGCCGCTTTGTCTCTCTCCAGGGCTTCCTGCAGGGCAGACGCACGCATGGCGAAGTTGCCATCTGAGGGGATGGCTTTTAATTTCACTCCACCAATTAACCCAGCTCTTTCCACTGAGGAGTGTGCCTGGAAAGAAGACAGCAGAGTTGGATTTGTACAGGTGTGTGCATGCAGTTATTACCAGGCCCTGGATCGGCAGAGAGCAGCCAACATTGCAAACACAAGGTCCCTCTTAACGGCACAGGAGGCAGAACTGCTCCTGACTGCTCCCTCTCCCCTGCACCTTCATGAGACCCCTTTTTTCCTGGAGTTGTTTCTGTTCCTGTGGAATCTTGCTTTTAAGTTTAAAGTATCAGGCACTAACAAGGGTAAAGTGCTGGGTCAATATTTATGAAGTTTTTCATTTGTTTGAACTCAAGGATAAGTGGCGAGACCCTGGAAAGTAGATCCCAGAGGTGGACTTAGAAATCCTAGGCTCAAATCTGTGCCCTGCCCCTGACTGTGGAGCCTTGGGGAGCTTGGTGGCCAGGCTCAGTAAACAGTACCTGGAGGAAAGAAACCAGCCAGGAGGCATCACCACTGTGGCAGATCCATCCTGTCTCAGAGATTCTCAGGAAAGGCAATTCTCATGAAAGCCGGCCACCTTTTGCCCTGCAGCCCCCACCGCCACTGTCTCCTGCTTGACGCTACCCAGGGGCCTGAGATCACAGAATAACAAAGCTGCAGTTAGGGCCGAGGACTTTGATCCCCATATCTAGTTTCTCTGCAATGGTGCTCGGAAGGCCAGATAATCACAACAGAAGTCCGCACTGGTAGAAAAGGTGACAGAGCCAGTCGCGGTGATGTCTCCACACATTTATTTCCTTCTTAACTTGATCTATCCAGTTCCCACCCAAGAATCCACCCCTTCCCTGTAGTTCAGGTCTCTATTTAGTGATACCTGAGGAACTGTTCTTAGATTTGGAAGGATGCTGTTTGGTTTGGTTTGAATTTGACATAAAACCAAACATTCGGGTCTTGAAGTCTTGGCTGATACCCCCACAACACACTCACCTGATCGGATGAGTAAGCCACCAGCTTCTCCATGATAGCGGCCTGTGTGAGCTCTGGGGACGCTGCCTGCAGCCGATGGATCACTTTGGTCCGAGCGGCCAGCAGGGCCACCAGGGTGGCTTCACTGGCACTTCCCTAAATTCAAGAGAAGGTCCAAATGAAATCCCAAACATAGCGAAGGCATTGGTACCTACACTATTGGAAGACATATTGTTTTGTGTCCATAGTTTTCTTAAAATATGAGTCTGAAATGGCAAAATTCACTCTCCTTTGCTTAGGAGAAAACTAATATTTTTGACACCTGAGACCACCACTTCAGCTGTTGGTATGAGTTTGCCATTGGTGGGTCTATTTTGTGTAACAGCAGCAGCTAACATTTCTGACCACTTCCCTGCGCCAGGTATTGTGAGAGCTTCTCCTCATGGACTGCCCCCAGCCTGGCCTAGGACGACTGCTCCTGTCTCTATCAGAGGAGAACGGCCCAGGGCACCAGCATGCAAGCCTGACTCTGCGTTCATATTCACTCGGACAGAGCGATTTGCATTTGTTTATAAAATAGGGGTGCATTTTCCTTGAGACTAAGAGATGCCTTAAAGGGTTTCTTTTGATTCCTAATGACACGGGCTGAATTGTGTCCCCAAAAATTCATGTGTTGAAGCCCTAACCCCCAGGACCTCAGATGTGACCATATTTGGAGATAGGCTTTTTAGAGAGGTAATTAAAAGAAAATGGGGTCACATGGCTGGGCTCTAATCCAATCTGACATGTTTCTGATAATATGAAATTTGCCTATAATCCCAGCACTTTGGGAGGCAGAGGAGGGTCGATCACTTGAGCCCCGGAGTTCGAGACCAGCCTGGGCAACATACCGAAACCCTGTATCTATAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCCTGGTAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCGCAATTACAACACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCAGTCTCAAAAAAATAAATAAATAAAAAGAAGGGGAAATGTGGCCCCCAGACATGTGGGTGCACAGAGGGAAGACCATGTGAGGACACAGGGAGAAGGTGGCCATCTGCAAGCCCAGGAGAGAGGCCCCAGGAGAACCAACCCTGTGGACACTTTGATTTTGGACTTGCAGCCTTCGGGACTGTGAGAAAAGAAATTCTTCTTCGATCCACCCAGTCAGTGGTATTTTGTTAGGGAACCCCTGGCAAACTAATGGATTCAGGGCCTGCTATGTTATCCCATTTAAGTTGTAAAAATAATCCCATTTTTGTGTTTTATCATCTTCAGGTGGGGAAACAGATGTGCAGAGAGGTTCACTAACTTGCCCCAAATCAGCAGCTAGGTAGGGCACGGTTAGGAGTGAGCCCACGCCTGCGCTTTTTAGGGTGCCATGGGCCTAGAAAGGTAGGGGCAGCGAGCACCTTCCCTCTTAAGTAAGTCGTAGAAGAAACCCATCTACCGACCAGTATGAAAGGACATTAGAAAGGGCAAATAAAAGAAGGTAGGTTCTTGTTGACTCTGAAAAAGTTTATAACATGATAGGTTTTTACAGAGAAATATATAATAAAATAATTAAGTAGAAATGCTAACCTCTCTTCTTAACATTTGATGCTCTCTTCATTGACCCTGATTTCTCATTTTGACTTTGCCTTGACACTACTTTTACTTATTCTTTTGAGCCAACCCACATCCTTTGGTGGGACAGTAATATTGAAAGATAAATACATTTATTCATGTTTCTGTAGCACTAATGGATGGGTTCAAATATACAGATATATGCGTCTCTTAATTCAGCATCTAAAATGGGTACTTTATTTCCTTCAGGCTATATTTTCATGAGCAATGATTTTAGACATTGTTTTAGGCCAGGTTTACAAACCTTGGCCAGAGGAGAGAGAAGGGGAGAAACCAATTTTGGCTGGCAAAGCTAAATCAGCCATCCCAGGAAACCCAGGCTCCCTGAGAGCAGGCATTGTACCTTACTTACACTTCTCCTATGTACCCCATCATTCCTGTCCCTGATTTCCTCCTGTCCCCCTATCTGCCCCCACACACATTTTGTTTGTCATGTCCCACCCATTCTCATTGGAAATGTAACAT
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ACATTTTCAGTGATGTTTCCTGCATTGTTTTCATTCTTGAAACCTAAAAGAGTGTGTTTTGACAGATTTATTTTTCCCTAGACAGAGTATTCTGAGTCTTAATATTGACACTATAGGTTCAAAGAAATTCACCTTATTTAAATAGAATCTATTCAAATTGTACTGAAATTGTTTGTGGGAATTTTAAGGGAGATCTTTCTTTCTACCTGAATGATCTTTCTTCCAAATCTTTATTTGTTTGACAAATATTTATCGAGCTTCTGTTCAGTGCCAGGCACTGTTTCAGGAGCTAGGGATAAGGCAGGGATTCAAATGGACCTTACCTCCCCGCACATTCTGTTGGGAAGAAGGAAGCAGTAAACACATATAGGAACAAACCTGTATGGCCTGTGGAGATGAACGCAACGGAGAAAGATAAGACTTTTGGGATAAGATGGCAGGTACACCTTGATCCACTGGCAGACTCTTTTTGCATCCTTCAAAATGTCTTGGCTGTCACCTTGCTCTGCGTGCTAACTTTGAGCCATGTCAGTTCTTCCACATTACACTGTGGAATTGACTTGAATTGACAAAACAAAAAAAAAAATGGAGGTAAAAAGCGTTTCTCAAAGATTAATTTTTTTTGAGACAGAGTCTTGCTCTGTCACACAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAAGAATGCGCCACCATGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCTTATTGGCCAGGAGCCACAAGTGCTGCCGAACTTACAAAGAAAGGAATCAGGCCAGCCGCTTTGTCTCTCTCCAGGGCTTCCTGCAGGGCAGACGCACGCATGGCGAAGTTGCCATCTGAGGGGATGGCTTTTAATTTCACTCCACCAATTAACCCAGCTCTTTCCACTGAGGAGTGTGCCTGGAAAGAAGACAGCAGAGTTGGATTTGTACAGGTGTGTGCATGCAGTTATTACCAGGCCCTGGATCGGCAGAGAGCAGCCAACATTGCAAACACAAGGTCCCTCTTAACGGCACAGGAGGCAGAACTGCTCCTGACTGCTCCCTCTCCCCTGCACCTTCATGAGACCCCTTTTTTCCTGGAGTTGTTTCTGTTCCTGTGGAATCTTGCTTTTAAGTTTAAAGTATCAGGCACTAACAAGGGTAAAGTGCTGGGTCAATATTTATGAAGTTTTTCATTTGTTTGAACTCAAGGATAAGTGGCGAGACCCTGGAAAGTAGATCCCAGAGGTGGACTTAGAAATCCTAGGCTCAAATCTGTGCCCTGCCCCTGACTGTGGAGCCTTGGGGAGCTTGGTGGCCAGGCTCAGTAAACAGTACCTGGAGGAAAGAAACCAGCCAGGAGGCATCACCACTGTGGCAGATCCATCCTGTCTCAGAGATTCTCAGGAAAGGCAATTCTCATGAAAGCCGGCCACCTTTTGCCCTGCAGCCCCCACCGCCACTGTCTCCTGCTTGACGCTACCCAGGGGCCTGAGATCACAGAATAACAAAGCTGCAGTTAGGGCCGAGGACTTTGATCCCCATATCTAGTTTCTCTGCAATGGTGCTCGGAAGGCCAGATAATCACAACAGAAGTCCGCACTGGTAGAAAAGGTGACAGAGCCAGTCGCGGTGATGTCTCCACACATTTATTTCCTTCTTAACTTGATCTATCCAGTTCCCACCCAAGAATCCACCCCTTCCCTGTAGTTCAGGTCTCTATTTAGTGATACCTGAGGAACTGTTCTTAGATTTGGAAGGATGCTGTTTGGTTTGGTTTGAATTTGACATAAAACCAAACATTCGGGTCTTGAAGTCTTGGCTGATACCCCCACAACACACTCACCTGATCGGATGAGTAAGCCACCAGCTTCTCCATGATAGCGGCCTGTGTGAGCTCTGGGGACGCTGCCTGCAGCCGATGGATCACTTTGGTCCGAGCGGCCAGCAGGGCCACCAGGGTGGCTTCACTGGCACGTCCCTAAATTCAAGAGAAGGTCCAAATGAAATCCCAAACATAGCGAAGGCATTGGTACCTACACTATTGGAAGACATATTGTTTTGTGTCCATAGTTTTCTTAAAATATGAGTCTGAAATGGCAAAATTCACTCTCCTTTGCTTAGGAGAAAACTAATATTTTTGACACCTGAGACCACCACTTCAGCTGTTGGTATGAGTTTGCCATTGGTGGGTCTATTTTGTGTAACAGCAGCAGCTAACATTTCTGACCACTTCCCTGCGCCAGGTATTGTGAGAGCTTCTCCTCATGGACTGCCCCCAGCCTGGCCTAGGACGACTGCTCCTGTCTCTATCAGAGGAGAACGGCCCAGGGCACCAGCATGCAAGCCTGACTCTGCGTTCATATTCACTCGGACAGAGCGATTTGCATTTGTTTATAAAATAGGGGTGCATTTTCCTTGAGACTAAGAGATGCCTTAAAGGGTTTCTTTTGATTCCTAATGACACGGGCTGAATTGTGTCCCCAAAAATTCATGTGTTGAAGCCCTAACCCCCAGGACCTCAGATGTGACCATATTTGGAGATAGGCTTTTTAGAGAGGTAATTAAAAGAAAATGGGGTCACATGGCTGGGCTCTAATCCAATCTGACATGTTTCTGATAATATGAAATTTGCCTATAATCCCAGCACTTTGGGAGGCAGAGGAGGGTCGATCACTTGAGCCCCGGAGTTCGAGACCAGCCTGGGCAACATACCGAAACCCTGTATCTATAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGCCTGGTAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCGCAATTACAACACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCAGTCTCAAAAAAATAAATAAATAAAAAGAAGGGGAAATGTGGCCCCCAGACATGTGGGTGCACAGAGGGAAGACCATGTGAGGACACAGGGAGAAGGTGGCCATCTGCAAGCCCAGGAGAGAGGCCCCAGGAGAACCAACCCTGTGGACACTTTGATTTTGGACTTGCAGCCTTCGGGACTGTGAGAAAAGAAATTCTTCTTCGATCCACCCAGTCAGTGGTATTTTGTTAGGGAACCCCTGGCAAACTAATGGATTCAGGGCCTGCTATGTTATCCCATTTAAGTTGTAAAAATAATCCCATTTTTGTGTTTTATCATCTTCAGGTGGGGAAACAGATGTGCAGAGAGGTTCACTAACTTGCCCCAAATCAGCAGCTAGGTAGGGCACGGTTAGGAGTGAGCCCACGCCTGCGCTTTTTAGGGTGCCATGGGCCTAGAAAGGTAGGGGCAGCGAGCACCTTCCCTCTTAAGTAAGTCGTAGAAGAAACCCATCTACCGACCAGTATGAAAGGACATTAGAAAGGGCAAATAAAAGAAGGTAGGTTCTTGTTGACTCTGAAAAAGTTTATAACATGATAGGTTTTTACAGAGAAATATATAATAAAATAATTAAGTAGAAATGCTAACCTCTCTTCTTAACATTTGATGCTCTCTTCATTGACCCTGATTTCTCATTTTGACTTTGCCTTGACACTACTTTTACTTATTCTTTTGAGCCAACCCACATCCTTTGGTGGGACAGTAATATTGAAAGATAAATACATTTATTCATGTTTCTGTAGCACTAATGGATGGGTTCAAATATACAGATATATGCGTCTCTTAATTCAGCATCTAAAATGGGTACTTTATTTCCTTCAGGCTATATTTTCATGAGCAATGATTTTAGACATTGTTTTAGGCCAGGTTTACAAACCTTGGCCAGAGGAGAGAGAAGGGGAGAAACCAATTTTGGCTGGCAAAGCTAAATCAGCCATCCCAGGAAACCCAGGCTCCCTGAGAGCAGGCATTGTACCTTACTTACACTTCTCCTATGTACCCCATCATTCCTGTCCCTGATTTCCTCCTGTCCCCCTATCTGCCCCCACACACATTTTGTTTGTCATGTCCCACCCATTCTCATTGGAAATGTAACAT
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Task1_train_11189
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A mutation in DDC-AS1, DDC (DDC antisense RNA 1| dopa decarboxylase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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TTCTCCAGCTTTCTCATTCAAAAATGCCTTTGGTAGTTCCAGCATCTTCCCGAGCCAGTCCATCATCACAGTCTCCAGCTCTGTGCATGCTGGGCTTGCCGCCTGTCGTGGGGGAAGGGAAGGGATTAACCGAGGGCCAGGCATTGCAGAATTTGGGGGTCAGCAGTAACAAGGGGATTTAACCTTCCACTAAAGCCCAGATTAAAATCACCCAATCTCAGATGTGATTCAAAGGCCTGAAGGCTGTTTGACCTAGAATCATGCAAGGAGAGCGGTTGGGAAGGAACATACGGGCCACCATAATGAACCTTACTCCACTGAGCCTCACTGCATGGGCTCTGCGGGCTTGCTAGGATATTCATTTGTTCACTCACAGAAGGGTCCAGAAAGCCCACTGGTGGACTTTCCTCCGTAGTCACAAATGAAGGGAATGAGAAAGTGGGCGCTGGGCAGCTGTCACCCTCTGGGCATCCCGAGAAGCCATTGATCTTGTCTTTTAAACTCCCAGTGACTTTTCTCTATGAACTCTCCCCTCTCTCTGAACAGGCTGGTCTTGAGCCCCATCCAAAGGTGGATTGAGTCTCCACCTTCATAAAAGTCTCCAACATAAGGGGTCCAAGATGTTCTCGTGCCTAGATGTGCACAGCAACATCCCGATGCGTCACCAGTAAGATCTAAGTGAGAAGAGTGCATTCTCCCTTCTGGTCAGCCCCATCCTGCTGGGTTCTACCTGAGCCTGGCCAAGCCCAGCTCTACCAGGAGCCTATGCTCTCTGCTAGGGATGAGGTATCAGGCAACGCAGCCTGAGAGATAGTGAGGCACTCCCTTCAAGGCCTGAGGGCAATCAGACTGTCCCAGAATGAGCAGATAGAGATGGATGCCAAGTACCTCTGTGGGACAGAATGGATTTGGACCAGCAGAGCTAAATGAAATCTGCTGCAATATCCAGTGATAGAAAATGCTCTTTAGGAGAGGGTATGCTCAGCCCAGGCCAGCCCTGCCCAGCAGAGAGGGAGGCCCCAGTGCCTGGCAGAGGAGCAGCACAGACACTGAAGAGCCCATCTGTGGGCTCTTCAGCCCTGCCTGTAGGGCCCATGATGCCTGCTCACCCGGCAACTTCCAGTGCCCCAGCCCAGAGAAGAGCAAGTGCCAGGCTGGTGAAGCAGAGGTGGCTCAGCTGGGCCCTGTGGCTCAGTGCTGCAAATTCCTAATTGACAGCTCCTTTACACATCACAGCATGCCACATAGACCGATGCCCACAAGTCCACCTGGCTCCAAGCCACAGACAAGGTGAGTGCTCTGGACCCCAAAGGCCAAGGACAGCCCCTGGCTTTTGAGGAACTCCCCAGGGTGCAGCAGCCCTCGGACACTGGCCATCAGCAGGCAGCTCTACCTCCAAGCTCTCTGCATTTGGGAGGAATGCATCTTTCCTGTAATCTGTGCCTGGAGCACAGAGTCACGGGCAGAGCCAGCCCTGCCTACCGTTCTTCTGAGTAGGGACTTTTTTAGGCATTTTACCTCCAGATAGGGTGGGACTGGTGGTTTGCAGGCAGGAGCTAGGCCCTTTTCCAGAGACCCCCCTGCTCCAAGGCTCTGGACACATCTGATAGGCTGGTTGGAGCCTCTCCCCAGGCAGCAGCCCTGGTGGAGAACAGAAGGAATGAGACAGGGGCAGTCGCGGTTCTCAAGCTTTGGAGGATATAGAAATTCTCTGAGCTGCTTGGAGAAATGCAGATTCCCAGGTTCGAGCTGCAGAAACTCTGGGCCCCAGACCATGATGTTAGTTCATACCAAGTGCTTCCAACACAGCCTGTGCAGAATGGGCTTTGAGTTGTTGAGACTTTCTCTGTTCTCAATCGCTACTTTCTCAGAGGCACTCTCTCTGGGCTGAATCCTTTCTCCTCCCTGCAACAGTAGCCCGTCTGCCCACAGACAGCACCGCCATCTGCTCAGGTCCCTTGTGCATAGGTACCGTGTCCCCACCCCGGGATCCCACCACAGCCAGGACCCCTTCCCGAGGTGCATCCGGACCCTCACCCAGGAGAAGCCGATGCAGCCAATGGCCCCGCACAGCATGTCCGCAAGCATGGCCGGGTACGAGCTGGCAGTGGGGAAGTAGGCGAAGAAGTAGGGGCTGTGCCAGTGCGTCACCTGCATGGGAGGACAGAGCAGCTGCTGAGGAGTGAGGAAAGCCAGGCCTCAAGAGAGCGGGGGACCCAGGTACCCCCATGGCTCCCAGCTGCCAGATGCAGCCAGACCCAGAGTTAGGTGAGTGCAGTTCCCCAAATGTCAGCCATCCCATTACCTTCCTCCATTATTTCGGAGCATTTACACATCACCTTACTGTCCCCACTCCCTTTAAACCAGCTCCCTTTTTGACACTGGAATGTATTTGCTAGCTCAGAAGGAAAAGTTCTATCTCCAAAATAAAGTGGAAAATCCTTATCATTTTCCATAACAAAAGAAGTCTCAAAAAACCACACTGTGCTTCAAGTTCTTGCTCCGGTGCTCTCGTCAGTGAAGGCGCTGCCCCAAGGCTGATCTCTTTGTGCCAAAAGCTTAGTTTTCCTAAAACTACTCTAAAAAATAAAGTCTCCATTAAAAACAAACAAACAAACAAAAAAAAAAACCAAGCTCTGGATTTTCGAGGTTTCTTCAGTCAAGCCACAAACATGCATCTGGTCTTCCCGCTGCCCCTGGCTCTTCTAGAGGAGCTGAGGCCTTCCCTCCAGCCAAGCAGCTGGATCACCCCACAGATGTCTCACCTCTGCTGTCCCTCAGCCTGGCCACTGCCCCTTGCCATTTGCCCTGGCTAGGGGCATCCCACCTTTCTCCAGCCCATAAGGTGAACACCTGCCACTCCCTGGGTGAGGCACAGAGGAAAAGCTCATGTGGGCCAGGGAGGAGATCCATAAGGGGTAGTGACAGCTCCAGGTGGTATACTTGGGGACAGGGGGTTTCAGGATCCAGGAGGCAAGGGTTGTGGTGGACACCCAGGCAGGGAACATTTAGCAATGGTAACAAGGGGCCAGCCTCAAACATCTTGGAGTCTGGGAGGACGATCAGGGGAGGACAGAGAAGGAGCAGGTGTAGCCTAGTCTTTGGGTCTTTAATTTGTTCCTGCCAATGCAGTACCTGCCCTGAAGGAACAGAATAAAGTCCTAAAGCCCTCAGGACAACCCTCAGCCCCTGTGCATGGAGAAGGTATAGAAATTGCCATTCAGACCCCTCTCAGGCTGTGACCACGCACTGGTTTCTGAGAGACATTGCCCTGTTCCGCATTGTCCCCTGCTGGTGCTCCATGTCCATCCTGCCTGTGGGAATAGCATGGTGTTGGGAGCACCCCTGGACTGCAAGTCCAGCAGGAACCCTGATTTGCTGGGTTACCCCAGACAACTGACTGCACCTCCCTGGGCCCTGTCATCCCTTCAGATAAAATGAAAGCACGTGCTCTGATGCTTCCTCCAGGTCTGGCTCAGAATCCCAGCAGCAGAGGATATGCTCTATCGGGCTTGGCTGCTCTGCTCTGAATGTGAGTATCTGCACACCATTCGCGTCGAAATCCTAACCCCCAAAGTGATGGCATTAAGGGACAGCGTCTTTGGGAGGTGATTAGGGCATGAGGGTGGGGTCCCCTTAATAAGATTAGTGCCCCCCAACAGTGGGATTAGTGCCCTCATAAGAAAAGGCAGAGAGCTGGCTACCTCTTGGTTACGTGAGTACACACTGGGAAGACGGCTGTCTGTAAACCAGGAAGAGAGCCCTCACCTGAACCTAATATCTTGATCTCAGACTTCCTGTCTCTAGAACTGTGAGAAATCAATGTTGTTTAAGCCCCCAGTCTACGTCCTTTGATATAGCAGTCCAAGCTAAGATATCTGTAAGATATCTCTTACAATCTGAGAAGAGATGCAAACATTTATTTCTCAATAGCACTCATCGTTAAATATATGTTGTCTAAGATGTAGCATGAGCAACCCCCTCTGATTGTGAAGGCAGCCAACTGAGAGAGCTCACCAAGAACTAGGAGTGTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGA
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TTCTCCAGCTTTCTCATTCAAAAATGCCTTTGGTAGTTCCAGCATCTTCCCGAGCCAGTCCATCATCACAGTCTCCAGCTCTGTGCATGCTGGGCTTGCCGCCTGTCGTGGGGGAAGGGAAGGGATTAACCGAGGGCCAGGCATTGCAGAATTTGGGGGTCAGCAGTAACAAGGGGATTTAACCTTCCACTAAAGCCCAGATTAAAATCACCCAATCTCAGATGTGATTCAAAGGCCTGAAGGCTGTTTGACCTAGAATCATGCAAGGAGAGCGGTTGGGAAGGAACATACGGGCCACCATAATGAACCTTACTCCACTGAGCCTCACTGCATGGGCTCTGCGGGCTTGCTAGGATATTCATTTGTTCACTCACAGAAGGGTCCAGAAAGCCCACTGGTGGACTTTCCTCCGTAGTCACAAATGAAGGGAATGAGAAAGTGGGCGCTGGGCAGCTGTCACCCTCTGGGCATCCCGAGAAGCCATTGATCTTGTCTTTTAAACTCCCAGTGACTTTTCTCTATGAACTCTCCCCTCTCTCTGAACAGGCTGGTCTTGAGCCCCATCCAAAGGTGGATTGAGTCTCCACCTTCATAAAAGTCTCCAACATAAGGGGTCCAAGATGTTCTCGTGCCTAGATGTGCACAGCAACATCCCGATGCGTCACCAGTAAGATCTAAGTGAGAAGAGTGCATTCTCCCTTCTGGTCAGCCCCATCCTGCTGGGTTCTACCTGAGCCTGGCCAAGCCCAGCTCTACCAGGAGCCTATGCTCTCTGCTAGGGATGAGGTATCAGGCAACGCAGCCTGAGAGATAGTGAGGCACTCCCTTCAAGGCCTGAGGGCAATCAGACTGTCCCAGAATGAGCAGATAGAGATGGATGCCAAGTACCTCTGTGGGACAGAATGGATTTGGACCAGCAGAGCTAAATGAAATCTGCTGCAATATCCAGTGATAGAAAATGCTCTTTAGGAGAGGGTATGCTCAGCCCAGGCCAGCCCTGCCCAGCAGAGAGGGAGGCCCCAGTGCCTGGCAGAGGAGCAGCACAGACACTGAAGAGCCCATCTGTGGGCTCTTCAGCCCTGCCTGTAGGGCCCATGATGCCTGCTCACCCGGCAACTTCCAGTGCCCCAGCCCAGAGAAGAGCAAGTGCCAGGCTGGTGAAGCAGAGGTGGCTCAGCTGGGCCCTGTGGCTCAGTGCTGCAAATTCCTAATTGACAGCTCCTTTACACATCACAGCATGCCACATAGACCGATGCCCACAAGTCCACCTGGCTCCAAGCCACAGACAAGGTGAGTGCTCTGGACCCCAAAGGCCAAGGACAGCCCCTGGCTTTTGAGGAACTCCCCAGGGTGCAGCAGCCCTCGGACACTGGCCATCAGCAGGCAGCTCTACCTCCAAGCTCTCTGCATTTGGGAGGAATGCATCTTTCCTGTAATCTGTGCCTGGAGCACAGAGTCACGGGCAGAGCCAGCCCTGCCTACCGTTCTTCTGAGTAGGGACTTTTTTAGGCATTTTACCTCCAGATAGGGTGGGACTGGTGGTTTGCAGGCAGGAGCTAGGCCCTTTTCCAGAGACCCCCCTGCTCCAAGGCTCTGGACACATCTGATAGGCTGGTTGGAGCCTCTCCCCAGGCAGCAGCCCTGGTGGAGAACAGAAGGAATGAGACAGGGGCAGTCGCGGTTCTCAAGCTTTGGAGGATATAGAAATTCTCTGAGCTGCTTGGAGAAATGCAGATTCCCAGGTTCGAGCTGCAGAAACTCTGGGCCCCAGACCATGATGTTAGTTCATACCAAGTGCTTCCAACACAGCCTGTGCAGAATGGGCTTTGAGTTGTTGAGACTTTCTCTGTTCTCAATCGCTACTTTCTCAGAGGCACTCTCTCTGGGCTGAATCCTTTCTCCTCCCTGCAACAGTAGCCCGTCTGCCCACAGACAGCACCGCCATCTGCTCAGGTCCCTTGTGCATAGGTACCGTGTCCCCACCCCGGGATCCCACCACAGCCAGGACCCCTTCCCGAGGTGCATCCGGACCCTCACCCAGGAGAAGCTGATGCAGCCAATGGCCCCGCACAGCATGTCCGCAAGCATGGCCGGGTACGAGCTGGCAGTGGGGAAGTAGGCGAAGAAGTAGGGGCTGTGCCAGTGCGTCACCTGCATGGGAGGACAGAGCAGCTGCTGAGGAGTGAGGAAAGCCAGGCCTCAAGAGAGCGGGGGACCCAGGTACCCCCATGGCTCCCAGCTGCCAGATGCAGCCAGACCCAGAGTTAGGTGAGTGCAGTTCCCCAAATGTCAGCCATCCCATTACCTTCCTCCATTATTTCGGAGCATTTACACATCACCTTACTGTCCCCACTCCCTTTAAACCAGCTCCCTTTTTGACACTGGAATGTATTTGCTAGCTCAGAAGGAAAAGTTCTATCTCCAAAATAAAGTGGAAAATCCTTATCATTTTCCATAACAAAAGAAGTCTCAAAAAACCACACTGTGCTTCAAGTTCTTGCTCCGGTGCTCTCGTCAGTGAAGGCGCTGCCCCAAGGCTGATCTCTTTGTGCCAAAAGCTTAGTTTTCCTAAAACTACTCTAAAAAATAAAGTCTCCATTAAAAACAAACAAACAAACAAAAAAAAAAACCAAGCTCTGGATTTTCGAGGTTTCTTCAGTCAAGCCACAAACATGCATCTGGTCTTCCCGCTGCCCCTGGCTCTTCTAGAGGAGCTGAGGCCTTCCCTCCAGCCAAGCAGCTGGATCACCCCACAGATGTCTCACCTCTGCTGTCCCTCAGCCTGGCCACTGCCCCTTGCCATTTGCCCTGGCTAGGGGCATCCCACCTTTCTCCAGCCCATAAGGTGAACACCTGCCACTCCCTGGGTGAGGCACAGAGGAAAAGCTCATGTGGGCCAGGGAGGAGATCCATAAGGGGTAGTGACAGCTCCAGGTGGTATACTTGGGGACAGGGGGTTTCAGGATCCAGGAGGCAAGGGTTGTGGTGGACACCCAGGCAGGGAACATTTAGCAATGGTAACAAGGGGCCAGCCTCAAACATCTTGGAGTCTGGGAGGACGATCAGGGGAGGACAGAGAAGGAGCAGGTGTAGCCTAGTCTTTGGGTCTTTAATTTGTTCCTGCCAATGCAGTACCTGCCCTGAAGGAACAGAATAAAGTCCTAAAGCCCTCAGGACAACCCTCAGCCCCTGTGCATGGAGAAGGTATAGAAATTGCCATTCAGACCCCTCTCAGGCTGTGACCACGCACTGGTTTCTGAGAGACATTGCCCTGTTCCGCATTGTCCCCTGCTGGTGCTCCATGTCCATCCTGCCTGTGGGAATAGCATGGTGTTGGGAGCACCCCTGGACTGCAAGTCCAGCAGGAACCCTGATTTGCTGGGTTACCCCAGACAACTGACTGCACCTCCCTGGGCCCTGTCATCCCTTCAGATAAAATGAAAGCACGTGCTCTGATGCTTCCTCCAGGTCTGGCTCAGAATCCCAGCAGCAGAGGATATGCTCTATCGGGCTTGGCTGCTCTGCTCTGAATGTGAGTATCTGCACACCATTCGCGTCGAAATCCTAACCCCCAAAGTGATGGCATTAAGGGACAGCGTCTTTGGGAGGTGATTAGGGCATGAGGGTGGGGTCCCCTTAATAAGATTAGTGCCCCCCAACAGTGGGATTAGTGCCCTCATAAGAAAAGGCAGAGAGCTGGCTACCTCTTGGTTACGTGAGTACACACTGGGAAGACGGCTGTCTGTAAACCAGGAAGAGAGCCCTCACCTGAACCTAATATCTTGATCTCAGACTTCCTGTCTCTAGAACTGTGAGAAATCAATGTTGTTTAAGCCCCCAGTCTACGTCCTTTGATATAGCAGTCCAAGCTAAGATATCTGTAAGATATCTCTTACAATCTGAGAAGAGATGCAAACATTTATTTCTCAATAGCACTCATCGTTAAATATATGTTGTCTAAGATGTAGCATGAGCAACCCCCTCTGATTGTGAAGGCAGCCAACTGAGAGAGCTCACCAAGAACTAGGAGTGTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGA
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Task1_train_11190
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A genetic alteration is present in DDC, DDC-AS1 (dopa decarboxylase| DDC antisense RNA 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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TCTTCCCGAGCCAGTCCATCATCACAGTCTCCAGCTCTGTGCATGCTGGGCTTGCCGCCTGTCGTGGGGGAAGGGAAGGGATTAACCGAGGGCCAGGCATTGCAGAATTTGGGGGTCAGCAGTAACAAGGGGATTTAACCTTCCACTAAAGCCCAGATTAAAATCACCCAATCTCAGATGTGATTCAAAGGCCTGAAGGCTGTTTGACCTAGAATCATGCAAGGAGAGCGGTTGGGAAGGAACATACGGGCCACCATAATGAACCTTACTCCACTGAGCCTCACTGCATGGGCTCTGCGGGCTTGCTAGGATATTCATTTGTTCACTCACAGAAGGGTCCAGAAAGCCCACTGGTGGACTTTCCTCCGTAGTCACAAATGAAGGGAATGAGAAAGTGGGCGCTGGGCAGCTGTCACCCTCTGGGCATCCCGAGAAGCCATTGATCTTGTCTTTTAAACTCCCAGTGACTTTTCTCTATGAACTCTCCCCTCTCTCTGAACAGGCTGGTCTTGAGCCCCATCCAAAGGTGGATTGAGTCTCCACCTTCATAAAAGTCTCCAACATAAGGGGTCCAAGATGTTCTCGTGCCTAGATGTGCACAGCAACATCCCGATGCGTCACCAGTAAGATCTAAGTGAGAAGAGTGCATTCTCCCTTCTGGTCAGCCCCATCCTGCTGGGTTCTACCTGAGCCTGGCCAAGCCCAGCTCTACCAGGAGCCTATGCTCTCTGCTAGGGATGAGGTATCAGGCAACGCAGCCTGAGAGATAGTGAGGCACTCCCTTCAAGGCCTGAGGGCAATCAGACTGTCCCAGAATGAGCAGATAGAGATGGATGCCAAGTACCTCTGTGGGACAGAATGGATTTGGACCAGCAGAGCTAAATGAAATCTGCTGCAATATCCAGTGATAGAAAATGCTCTTTAGGAGAGGGTATGCTCAGCCCAGGCCAGCCCTGCCCAGCAGAGAGGGAGGCCCCAGTGCCTGGCAGAGGAGCAGCACAGACACTGAAGAGCCCATCTGTGGGCTCTTCAGCCCTGCCTGTAGGGCCCATGATGCCTGCTCACCCGGCAACTTCCAGTGCCCCAGCCCAGAGAAGAGCAAGTGCCAGGCTGGTGAAGCAGAGGTGGCTCAGCTGGGCCCTGTGGCTCAGTGCTGCAAATTCCTAATTGACAGCTCCTTTACACATCACAGCATGCCACATAGACCGATGCCCACAAGTCCACCTGGCTCCAAGCCACAGACAAGGTGAGTGCTCTGGACCCCAAAGGCCAAGGACAGCCCCTGGCTTTTGAGGAACTCCCCAGGGTGCAGCAGCCCTCGGACACTGGCCATCAGCAGGCAGCTCTACCTCCAAGCTCTCTGCATTTGGGAGGAATGCATCTTTCCTGTAATCTGTGCCTGGAGCACAGAGTCACGGGCAGAGCCAGCCCTGCCTACCGTTCTTCTGAGTAGGGACTTTTTTAGGCATTTTACCTCCAGATAGGGTGGGACTGGTGGTTTGCAGGCAGGAGCTAGGCCCTTTTCCAGAGACCCCCCTGCTCCAAGGCTCTGGACACATCTGATAGGCTGGTTGGAGCCTCTCCCCAGGCAGCAGCCCTGGTGGAGAACAGAAGGAATGAGACAGGGGCAGTCGCGGTTCTCAAGCTTTGGAGGATATAGAAATTCTCTGAGCTGCTTGGAGAAATGCAGATTCCCAGGTTCGAGCTGCAGAAACTCTGGGCCCCAGACCATGATGTTAGTTCATACCAAGTGCTTCCAACACAGCCTGTGCAGAATGGGCTTTGAGTTGTTGAGACTTTCTCTGTTCTCAATCGCTACTTTCTCAGAGGCACTCTCTCTGGGCTGAATCCTTTCTCCTCCCTGCAACAGTAGCCCGTCTGCCCACAGACAGCACCGCCATCTGCTCAGGTCCCTTGTGCATAGGTACCGTGTCCCCACCCCGGGATCCCACCACAGCCAGGACCCCTTCCCGAGGTGCATCCGGACCCTCACCCAGGAGAAGCCGATGCAGCCAATGGCCCCGCACAGCATGTCCGCAAGCATGGCCGGGTACGAGCTGGCAGTGGGGAAGTAGGCGAAGAAGTAGGGGCTGTGCCAGTGCGTCACCTGCATGGGAGGACAGAGCAGCTGCTGAGGAGTGAGGAAAGCCAGGCCTCAAGAGAGCGGGGGACCCAGGTACCCCCATGGCTCCCAGCTGCCAGATGCAGCCAGACCCAGAGTTAGGTGAGTGCAGTTCCCCAAATGTCAGCCATCCCATTACCTTCCTCCATTATTTCGGAGCATTTACACATCACCTTACTGTCCCCACTCCCTTTAAACCAGCTCCCTTTTTGACACTGGAATGTATTTGCTAGCTCAGAAGGAAAAGTTCTATCTCCAAAATAAAGTGGAAAATCCTTATCATTTTCCATAACAAAAGAAGTCTCAAAAAACCACACTGTGCTTCAAGTTCTTGCTCCGGTGCTCTCGTCAGTGAAGGCGCTGCCCCAAGGCTGATCTCTTTGTGCCAAAAGCTTAGTTTTCCTAAAACTACTCTAAAAAATAAAGTCTCCATTAAAAACAAACAAACAAACAAAAAAAAAAACCAAGCTCTGGATTTTCGAGGTTTCTTCAGTCAAGCCACAAACATGCATCTGGTCTTCCCGCTGCCCCTGGCTCTTCTAGAGGAGCTGAGGCCTTCCCTCCAGCCAAGCAGCTGGATCACCCCACAGATGTCTCACCTCTGCTGTCCCTCAGCCTGGCCACTGCCCCTTGCCATTTGCCCTGGCTAGGGGCATCCCACCTTTCTCCAGCCCATAAGGTGAACACCTGCCACTCCCTGGGTGAGGCACAGAGGAAAAGCTCATGTGGGCCAGGGAGGAGATCCATAAGGGGTAGTGACAGCTCCAGGTGGTATACTTGGGGACAGGGGGTTTCAGGATCCAGGAGGCAAGGGTTGTGGTGGACACCCAGGCAGGGAACATTTAGCAATGGTAACAAGGGGCCAGCCTCAAACATCTTGGAGTCTGGGAGGACGATCAGGGGAGGACAGAGAAGGAGCAGGTGTAGCCTAGTCTTTGGGTCTTTAATTTGTTCCTGCCAATGCAGTACCTGCCCTGAAGGAACAGAATAAAGTCCTAAAGCCCTCAGGACAACCCTCAGCCCCTGTGCATGGAGAAGGTATAGAAATTGCCATTCAGACCCCTCTCAGGCTGTGACCACGCACTGGTTTCTGAGAGACATTGCCCTGTTCCGCATTGTCCCCTGCTGGTGCTCCATGTCCATCCTGCCTGTGGGAATAGCATGGTGTTGGGAGCACCCCTGGACTGCAAGTCCAGCAGGAACCCTGATTTGCTGGGTTACCCCAGACAACTGACTGCACCTCCCTGGGCCCTGTCATCCCTTCAGATAAAATGAAAGCACGTGCTCTGATGCTTCCTCCAGGTCTGGCTCAGAATCCCAGCAGCAGAGGATATGCTCTATCGGGCTTGGCTGCTCTGCTCTGAATGTGAGTATCTGCACACCATTCGCGTCGAAATCCTAACCCCCAAAGTGATGGCATTAAGGGACAGCGTCTTTGGGAGGTGATTAGGGCATGAGGGTGGGGTCCCCTTAATAAGATTAGTGCCCCCCAACAGTGGGATTAGTGCCCTCATAAGAAAAGGCAGAGAGCTGGCTACCTCTTGGTTACGTGAGTACACACTGGGAAGACGGCTGTCTGTAAACCAGGAAGAGAGCCCTCACCTGAACCTAATATCTTGATCTCAGACTTCCTGTCTCTAGAACTGTGAGAAATCAATGTTGTTTAAGCCCCCAGTCTACGTCCTTTGATATAGCAGTCCAAGCTAAGATATCTGTAAGATATCTCTTACAATCTGAGAAGAGATGCAAACATTTATTTCTCAATAGCACTCATCGTTAAATATATGTTGTCTAAGATGTAGCATGAGCAACCCCCTCTGATTGTGAAGGCAGCCAACTGAGAGAGCTCACCAAGAACTAGGAGTGTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGAGAGAGGGAGCTAACACAGTCTAGGCTTGGGGGCTCAGGTGTGGG
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TCTTCCCGAGCCAGTCCATCATCACAGTCTCCAGCTCTGTGCATGCTGGGCTTGCCGCCTGTCGTGGGGGAAGGGAAGGGATTAACCGAGGGCCAGGCATTGCAGAATTTGGGGGTCAGCAGTAACAAGGGGATTTAACCTTCCACTAAAGCCCAGATTAAAATCACCCAATCTCAGATGTGATTCAAAGGCCTGAAGGCTGTTTGACCTAGAATCATGCAAGGAGAGCGGTTGGGAAGGAACATACGGGCCACCATAATGAACCTTACTCCACTGAGCCTCACTGCATGGGCTCTGCGGGCTTGCTAGGATATTCATTTGTTCACTCACAGAAGGGTCCAGAAAGCCCACTGGTGGACTTTCCTCCGTAGTCACAAATGAAGGGAATGAGAAAGTGGGCGCTGGGCAGCTGTCACCCTCTGGGCATCCCGAGAAGCCATTGATCTTGTCTTTTAAACTCCCAGTGACTTTTCTCTATGAACTCTCCCCTCTCTCTGAACAGGCTGGTCTTGAGCCCCATCCAAAGGTGGATTGAGTCTCCACCTTCATAAAAGTCTCCAACATAAGGGGTCCAAGATGTTCTCGTGCCTAGATGTGCACAGCAACATCCCGATGCGTCACCAGTAAGATCTAAGTGAGAAGAGTGCATTCTCCCTTCTGGTCAGCCCCATCCTGCTGGGTTCTACCTGAGCCTGGCCAAGCCCAGCTCTACCAGGAGCCTATGCTCTCTGCTAGGGATGAGGTATCAGGCAACGCAGCCTGAGAGATAGTGAGGCACTCCCTTCAAGGCCTGAGGGCAATCAGACTGTCCCAGAATGAGCAGATAGAGATGGATGCCAAGTACCTCTGTGGGACAGAATGGATTTGGACCAGCAGAGCTAAATGAAATCTGCTGCAATATCCAGTGATAGAAAATGCTCTTTAGGAGAGGGTATGCTCAGCCCAGGCCAGCCCTGCCCAGCAGAGAGGGAGGCCCCAGTGCCTGGCAGAGGAGCAGCACAGACACTGAAGAGCCCATCTGTGGGCTCTTCAGCCCTGCCTGTAGGGCCCATGATGCCTGCTCACCCGGCAACTTCCAGTGCCCCAGCCCAGAGAAGAGCAAGTGCCAGGCTGGTGAAGCAGAGGTGGCTCAGCTGGGCCCTGTGGCTCAGTGCTGCAAATTCCTAATTGACAGCTCCTTTACACATCACAGCATGCCACATAGACCGATGCCCACAAGTCCACCTGGCTCCAAGCCACAGACAAGGTGAGTGCTCTGGACCCCAAAGGCCAAGGACAGCCCCTGGCTTTTGAGGAACTCCCCAGGGTGCAGCAGCCCTCGGACACTGGCCATCAGCAGGCAGCTCTACCTCCAAGCTCTCTGCATTTGGGAGGAATGCATCTTTCCTGTAATCTGTGCCTGGAGCACAGAGTCACGGGCAGAGCCAGCCCTGCCTACCGTTCTTCTGAGTAGGGACTTTTTTAGGCATTTTACCTCCAGATAGGGTGGGACTGGTGGTTTGCAGGCAGGAGCTAGGCCCTTTTCCAGAGACCCCCCTGCTCCAAGGCTCTGGACACATCTGATAGGCTGGTTGGAGCCTCTCCCCAGGCAGCAGCCCTGGTGGAGAACAGAAGGAATGAGACAGGGGCAGTCGCGGTTCTCAAGCTTTGGAGGATATAGAAATTCTCTGAGCTGCTTGGAGAAATGCAGATTCCCAGGTTCGAGCTGCAGAAACTCTGGGCCCCAGACCATGATGTTAGTTCATACCAAGTGCTTCCAACACAGCCTGTGCAGAATGGGCTTTGAGTTGTTGAGACTTTCTCTGTTCTCAATCGCTACTTTCTCAGAGGCACTCTCTCTGGGCTGAATCCTTTCTCCTCCCTGCAACAGTAGCCCGTCTGCCCACAGACAGCACCGCCATCTGCTCAGGTCCCTTGTGCATAGGTACCGTGTCCCCACCCCGGGATCCCACCACAGCCAGGACCCCTTCCCGAGGTGCATCCGGACCCTCACCCAGGAGAAGCCGATGCAGCCAATGGCCCCGCACAGCATGTCCGCAAGCATGGCCAGGTACGAGCTGGCAGTGGGGAAGTAGGCGAAGAAGTAGGGGCTGTGCCAGTGCGTCACCTGCATGGGAGGACAGAGCAGCTGCTGAGGAGTGAGGAAAGCCAGGCCTCAAGAGAGCGGGGGACCCAGGTACCCCCATGGCTCCCAGCTGCCAGATGCAGCCAGACCCAGAGTTAGGTGAGTGCAGTTCCCCAAATGTCAGCCATCCCATTACCTTCCTCCATTATTTCGGAGCATTTACACATCACCTTACTGTCCCCACTCCCTTTAAACCAGCTCCCTTTTTGACACTGGAATGTATTTGCTAGCTCAGAAGGAAAAGTTCTATCTCCAAAATAAAGTGGAAAATCCTTATCATTTTCCATAACAAAAGAAGTCTCAAAAAACCACACTGTGCTTCAAGTTCTTGCTCCGGTGCTCTCGTCAGTGAAGGCGCTGCCCCAAGGCTGATCTCTTTGTGCCAAAAGCTTAGTTTTCCTAAAACTACTCTAAAAAATAAAGTCTCCATTAAAAACAAACAAACAAACAAAAAAAAAAACCAAGCTCTGGATTTTCGAGGTTTCTTCAGTCAAGCCACAAACATGCATCTGGTCTTCCCGCTGCCCCTGGCTCTTCTAGAGGAGCTGAGGCCTTCCCTCCAGCCAAGCAGCTGGATCACCCCACAGATGTCTCACCTCTGCTGTCCCTCAGCCTGGCCACTGCCCCTTGCCATTTGCCCTGGCTAGGGGCATCCCACCTTTCTCCAGCCCATAAGGTGAACACCTGCCACTCCCTGGGTGAGGCACAGAGGAAAAGCTCATGTGGGCCAGGGAGGAGATCCATAAGGGGTAGTGACAGCTCCAGGTGGTATACTTGGGGACAGGGGGTTTCAGGATCCAGGAGGCAAGGGTTGTGGTGGACACCCAGGCAGGGAACATTTAGCAATGGTAACAAGGGGCCAGCCTCAAACATCTTGGAGTCTGGGAGGACGATCAGGGGAGGACAGAGAAGGAGCAGGTGTAGCCTAGTCTTTGGGTCTTTAATTTGTTCCTGCCAATGCAGTACCTGCCCTGAAGGAACAGAATAAAGTCCTAAAGCCCTCAGGACAACCCTCAGCCCCTGTGCATGGAGAAGGTATAGAAATTGCCATTCAGACCCCTCTCAGGCTGTGACCACGCACTGGTTTCTGAGAGACATTGCCCTGTTCCGCATTGTCCCCTGCTGGTGCTCCATGTCCATCCTGCCTGTGGGAATAGCATGGTGTTGGGAGCACCCCTGGACTGCAAGTCCAGCAGGAACCCTGATTTGCTGGGTTACCCCAGACAACTGACTGCACCTCCCTGGGCCCTGTCATCCCTTCAGATAAAATGAAAGCACGTGCTCTGATGCTTCCTCCAGGTCTGGCTCAGAATCCCAGCAGCAGAGGATATGCTCTATCGGGCTTGGCTGCTCTGCTCTGAATGTGAGTATCTGCACACCATTCGCGTCGAAATCCTAACCCCCAAAGTGATGGCATTAAGGGACAGCGTCTTTGGGAGGTGATTAGGGCATGAGGGTGGGGTCCCCTTAATAAGATTAGTGCCCCCCAACAGTGGGATTAGTGCCCTCATAAGAAAAGGCAGAGAGCTGGCTACCTCTTGGTTACGTGAGTACACACTGGGAAGACGGCTGTCTGTAAACCAGGAAGAGAGCCCTCACCTGAACCTAATATCTTGATCTCAGACTTCCTGTCTCTAGAACTGTGAGAAATCAATGTTGTTTAAGCCCCCAGTCTACGTCCTTTGATATAGCAGTCCAAGCTAAGATATCTGTAAGATATCTCTTACAATCTGAGAAGAGATGCAAACATTTATTTCTCAATAGCACTCATCGTTAAATATATGTTGTCTAAGATGTAGCATGAGCAACCCCCTCTGATTGTGAAGGCAGCCAACTGAGAGAGCTCACCAAGAACTAGGAGTGTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGAGAGAGGGAGCTAACACAGTCTAGGCTTGGGGGCTCAGGTGTGGG
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Task1_train_11191
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A variant has been detected on Chromosome 7 in DDC (dopa decarboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Deficiency of aromatic-L-amino-acid decarboxylase
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GATTGTGAAGGCAGCCAACTGAGAGAGCTCACCAAGAACTAGGAGTGTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGAGAGAGGGAGCTAACACAGTCTAGGCTTGGGGGCTCAGGTGTGGGAGGTTGGTGATGAGGCTGAGAGGCCGAGAGGAGCTGCACAGGCTGTGATGCCTTCAGCACAGCAGGTCCAGGCCCACGACACTGTTAGGGGCTGAAAAAATGCTTAAATTTCTTCTGTAATCAGGAGGAAAAAACAGTGAACTTTCAGGTTAAAGAAAAAAAATCGATGTTAATATATTCATCTTTATGCCAATGCATTTGTAAAGCATAATTTTCCATATTTCTAGGGAGGAAGGAGCCGACAAAGACAAAGCGCCCGGGGCCCAGGAGAGTTTAAGAGCAGCCCTGTGGCTGACTAGCCCCTCCGCACCTGGAGGGCCCATGTGCCTTTGTCTCTCTCCCCTTCCTGTGGCCTTTGGGCTGGAAAAGGACAGAAGCGATTCTTGATTAGGGACAGATGTGTGCTCTTTTGCTTCACTCTCCGCTGATATTCACAGCAACTTTTGAGATGGCTGGGCCTGCACTTGCTCCGCTCACGGCTCGAGAGCTCACCTGGTTTCCTGCGATCACACAGCCAGCAGTTCGTGGGCTGCAGCTCCCACCCAGGGACCTTGCCCAACGCCTGTGCATTTCCCAGCTCAGCTCTGCGCAGTGAATGCCCCCATAGAAGGAAGCAGAAAGACTTCAAATCCTCCCTTACTCTCCTGTACTCCCCACTGCCTGACATTTAGCCACACCTCTCCCAAAGGGTTTTATGCTGAACAGCTTAGTGTACTTGCACAATTTCTAGAAGAACCTGAATCCTGTTCTTTGCTCAAAGCATAAATGCCAAGTGAGAATCCCCTGGAAGAAGAAATGTGAGCAGTGTGGTGAGAGAGGCGCTCAGCTACTGAGAAACCAGTCCCTGAGGTCCAGGGCCTGAGGCCTAGTCTCAACCCATGATCAGTGGACTGTAACCTTGTCTGACCTTATGCCTTCACAGGGCCTTGGCATTCTGTCTACATTGAGGGAGTGGGTCTTGATGGTCCCAGACCCCTCTTCTATGAAAATCACATGTCGTTGCTCATAGGCCTTACAACCACAGACATGCTGGGTCGCGGCAGTGATCAACCAGTGGAGCCCACGGAGATTTTCCCTGCCTGGACTCTGCACATTGTTGCATGGAAGGGCAGGTTTGGCCATCCTCATAAACATTCGTGATCTAGAAACTGGCCGGGCTGCAACTCCCACCCAGACCCTGACTAGGCCAGAGCCACTTTAACCAACAGGCTTTTAGGTGAACTCCTTGGCAGAGAAAATCTACTGTGGAAGCGTAAAGCTGAAGGGAAGTTTCTCTGAGCTCCAACTCTGCTGCCCTGTGAGTGAGTATCGGAGACAGCAGCCAGTCCCGCTGATTTCTGCCCTCTGTGTACCCCAGGCCTACTGGCTTCAGAGAAAAAGGGCTGCCTTGGTGGGCAGCACCACACTGCCCACTCTCAAATAAACTAAAGAAAACGTTTCTTCCACATATGCTAATTACCTATTGCTAAACCCAAGGATGGTGGAAGTGTGCTTTATTTGGGGCAATTGACTTATTTGAAAGCAGCCACCAGTGTCTTGCTTCCTAATGTATATGAGGACACGCTCTATGTACCGAGTGTCTCTGGGCAGGGACTGAGTCTCAGGGGACCTGGGGGAAAGAGCCTCACTGCCCTTGGATTTGGATTTTAATCCTGACTTCATCGTGTACTACCTGTGTGACCTGAGGTGGACCACCTAACCTCTCTGAGCCTCAGTTTCCTCAGTTGTAAAATAGAAATGACAAAATTTCTCTCCAACCTGACTGCCATAGGGATTCCTTGAAACAAAGTATGTGAATTGCTCAGAGCCAAGTAGGTGCTATGTGAGTTCTAGCCCTCCTGTTTTCTGACCTTGGATACACACTTACCCCAGGCATGATTATCTTCTCAACGTCGTTGATGATGTCCTCAAACGTGTCTGGCTCCTGAGGGGCAGCGGCAGGGATCAGCGGCCGCAGGTACCCGGGCTCCACGTCAGGGTAGACCTGGCGTCCCTCAATGCCTTCCATGTAGTTGGCCATGTAATCCACCATCTCCTTCCCTCTCCTTCGGAATTCACTTGCGTTCATGGTGTCTGGGCTCTGTCAGAGGTGAAAACTGCAGAAAGAAAATGATTCAGTGAGCAAATTTTGCAACCTCTGAACTGGAAGGCGGGGATACCAAGCAAGCCGTGGGTAGGGACACCTGGGCAGTGACTGCATGCCCTGGAGGCCACTTGGATCCCAAGTAAGGGGCGCTTTCCCTCCATGTCTGTAGGAGGTAGAAATGGCACTGGATTTGGGACTGAGGCAAAAGCTGCTTCTCCTCTTCACCAGCTATTCAACTGGGAACAACACAACGTCGCTTTATTTCAATAGACTAGAAGCACACGTTTATTTTCATGATCGATTCCAACTTTAATGACAAACACTGGTCCAAGTCCTGCCTCTGCCCTTACCTGCCTTTGAAAGAGACAAGCTTGCCCCTTAGAGCCCCTCTCCTCATCTGAGAAATGAAGACTGTGATGCTGACCTCTCAGGAGGGCATGAAGGCACAGTCACACAATGCACACGAGCCTCAGCTCAGAGCCTGGGGCAGCACACCCCCTCAAACTTAGTCTTCTTCTCTCCTCTTGATTCTGTCACAGATGGAACTGCACCTTTACGCACCATCTGCTTTTTAAAACTAATGCTCTCCTCCCTCCTTGCATAAGTAATATACAGGCAATTCTCATTATTGCTGGTAGCTGTGTTCTATCTACAACAGTTGCCATGGCCATAAACTCTGAATTAGTGAATACTGAACCATTTCTTCTAGGGGAAATACAATTTCCTGAAGCGTGATCCCAACATTTTTGTCAACAAATCAGTACATAAACTTTTCATGTGTTTTTAAGAGACACTTTATTTAATATATATTGATTCATTAACATTGGACTCACAGCCAACAGCACTGTAACTCCTGTCTGGGGAAGCTTCTCTAACACATATATTTTCTCCATAAGGCACGTCTTGTGCATAGGATGGCTAGACAGCACTTCTGCACCACATTTGGGGGTCATTTTAAACAGCAAAATCACCAAGAAGAAAAACATAAAAATGTGAAGGATGTGGCACTGAATAGACAGAGAGAAGGACATGTTTACATTATGAGAGCTGACGCAAGAAGGTAGTGTGTCCCTTTGTTCAGCCTCAGCTGGGAACATACGCATCGGACAAGCACATTCTCCACTACGCTACACATATGTACGTCCCTGAGTGGTCTCAAAAGCACCATGAGTATTGATATTTATTGACATTGGGGGTTACAAATGAATTTTAGCAAGTAGGAGAATTTGCATAGGTGGAATATGTGAATAAGAATCAATTGTATTTTCAAAACAGGACAGTGAACAACACAAAGAAAAAGATAAGCCTAAAATCCCACAACCCAAAATTCTGGCACATGTCTTTCTAGAATTTTTATTTTACTTTATTTTATGTGTTTATTTTTTTGAAACGGAGTTTTGCTCTTGTCGCCCAGGCTGAAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTATAAGCACCCACCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCACATTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCACCAGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCTCTAGAATATTTTCTATTTATGAGAGACAATTGCATGCTAGGGATGGACTCACAGCCAACAGCACTGTAACTCCTGTCTGGGGAAGCTTCTCTAACACATGTATTTTCTCCATAAGGCACGTCTTGTGCATAGGATGGCACAAGGAAAATGCATAGGGATGCATTTTCAAATCTTTTTCATACTCC
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GATTGTGAAGGCAGCCAACTGAGAGAGCTCACCAAGAACTAGGAGTGTTCAGTAAGGTTTATTTAACAACCACGGCCACCCCAAGTCTGCCAGGGCTTGGGGAGTGGTGGAGAGAGGGAGCTAACACAGTCTAGGCTTGGGGGCTCAGGTGTGGGAGGTTGGTGATGAGGCTGAGAGGCCGAGAGGAGCTGCACAGGCTGTGATGCCTTCAGCACAGCAGGTCCAGGCCCACGACACTGTTAGGGGCTGAAAAAATGCTTAAATTTCTTCTGTAATCAGGAGGAAAAAACAGTGAACTTTCAGGTTAAAGAAAAAAAATCGATGTTAATATATTCATCTTTATGCCAATGCATTTGTAAAGCATAATTTTCCATATTTCTAGGGAGGAAGGAGCCGACAAAGACAAAGCGCCCGGGGCCCAGGAGAGTTTAAGAGCAGCCCTGTGGCTGACTAGCCCCTCCGCACCTGGAGGGCCCATGTGCCTTTGTCTCTCTCCCCTTCCTGTGGCCTTTGGGCTGGAAAAGGACAGAAGCGATTCTTGATTAGGGACAGATGTGTGCTCTTTTGCTTCACTCTCCGCTGATATTCACAGCAACTTTTGAGATGGCTGGGCCTGCACTTGCTCCGCTCACGGCTCGAGAGCTCACCTGGTTTCCTGCGATCACACAGCCAGCAGTTCGTGGGCTGCAGCTCCCACCCAGGGACCTTGCCCAACGCCTGTGCATTTCCCAGCTCAGCTCTGCGCAGTGAATGCCCCCATAGAAGGAAGCAGAAAGACTTCAAATCCTCCCTTACTCTCCTGTACTCCCCACTGCCTGACATTTAGCCACACCTCTCCCAAAGGGTTTTATGCTGAACAGCTTAGTGTACTTGCACAATTTCTAGAAGAACCTGAATCCTGTTCTTTGCTCAAAGCATAAATGCCAAGTGAGAATCCCCTGGAAGAAGAAATGTGAGCAGTGTGGTGAGAGAGGCGCTCAGCTACTGAGAAACCAGTCCCTGAGGTCCAGGGCCTGAGGCCTAGTCTCAACCCATGATCAGTGGACTGTAACCTTGTCTGACCTTATGCCTTCACAGGGCCTTGGCATTCTGTCTACATTGAGGGAGTGGGTCTTGATGGTCCCAGACCCCTCTTCTATGAAAATCACATGTCGTTGCTCATAGGCCTTACAACCACAGACATGCTGGGTCGCGGCAGTGATCAACCAGTGGAGCCCACGGAGATTTTCCCTGCCTGGACTCTGCACATTGTTGCATGGAAGGGCAGGTTTGGCCATCCTCATAAACATTCGTGATCTAGAAACTGGCCGGGCTGCAACTCCCACCCAGACCCTGACTAGGCCAGAGCCACTTTAACCAACAGGCTTTTAGGTGAACTCCTTGGCAGAGAAAATCTACTGTGGAAGCGTAAAGCTGAAGGGAAGTTTCTCTGAGCTCCAACTCTGCTGCCCTGTGAGTGAGTATCGGAGACAGCAGCCAGTCCCGCTGATTTCTGCCCTCTGTGTACCCCAGGCCTACTGGCTTCAGAGAAAAAGGGCTGCCTTGGTGGGCAGCACCACACTGCCCACTCTCAAATAAACTAAAGAAAACGTTTCTTCCACATATGCTAATTACCTATTGCTAAACCCAAGGATGGTGGAAGTGTGCTTTATTTGGGGCAATTGACTTATTTGAAAGCAGCCACCAGTGTCTTGCTTCCTAATGTATATGAGGACACGCTCTATGTACCGAGTGTCTCTGGGCAGGGACTGAGTCTCAGGGGACCTGGGGGAAAGAGCCTCACTGCCCTTGGATTTGGATTTTAATCCTGACTTCATCGTGTACTACCTGTGTGACCTGAGGTGGACCACCTAACCTCTCTGAGCCTCAGTTTCCTCAGTTGTAAAATAGAAATGACAAAATTTCTCTCCAACCTGACTGCCATAGGGATTCCTTGAAACAAAGTATGTGAATTGCTCAGAGCCAAGTAGGTGCTATGTGAGTTCTAGCCCTCCTGTTTTCTGACCTTGGATACACACTTACCCCAGGCATGATTATCTTCTCAACGTTGTTGATGATGTCCTCAAACGTGTCTGGCTCCTGAGGGGCAGCGGCAGGGATCAGCGGCCGCAGGTACCCGGGCTCCACGTCAGGGTAGACCTGGCGTCCCTCAATGCCTTCCATGTAGTTGGCCATGTAATCCACCATCTCCTTCCCTCTCCTTCGGAATTCACTTGCGTTCATGGTGTCTGGGCTCTGTCAGAGGTGAAAACTGCAGAAAGAAAATGATTCAGTGAGCAAATTTTGCAACCTCTGAACTGGAAGGCGGGGATACCAAGCAAGCCGTGGGTAGGGACACCTGGGCAGTGACTGCATGCCCTGGAGGCCACTTGGATCCCAAGTAAGGGGCGCTTTCCCTCCATGTCTGTAGGAGGTAGAAATGGCACTGGATTTGGGACTGAGGCAAAAGCTGCTTCTCCTCTTCACCAGCTATTCAACTGGGAACAACACAACGTCGCTTTATTTCAATAGACTAGAAGCACACGTTTATTTTCATGATCGATTCCAACTTTAATGACAAACACTGGTCCAAGTCCTGCCTCTGCCCTTACCTGCCTTTGAAAGAGACAAGCTTGCCCCTTAGAGCCCCTCTCCTCATCTGAGAAATGAAGACTGTGATGCTGACCTCTCAGGAGGGCATGAAGGCACAGTCACACAATGCACACGAGCCTCAGCTCAGAGCCTGGGGCAGCACACCCCCTCAAACTTAGTCTTCTTCTCTCCTCTTGATTCTGTCACAGATGGAACTGCACCTTTACGCACCATCTGCTTTTTAAAACTAATGCTCTCCTCCCTCCTTGCATAAGTAATATACAGGCAATTCTCATTATTGCTGGTAGCTGTGTTCTATCTACAACAGTTGCCATGGCCATAAACTCTGAATTAGTGAATACTGAACCATTTCTTCTAGGGGAAATACAATTTCCTGAAGCGTGATCCCAACATTTTTGTCAACAAATCAGTACATAAACTTTTCATGTGTTTTTAAGAGACACTTTATTTAATATATATTGATTCATTAACATTGGACTCACAGCCAACAGCACTGTAACTCCTGTCTGGGGAAGCTTCTCTAACACATATATTTTCTCCATAAGGCACGTCTTGTGCATAGGATGGCTAGACAGCACTTCTGCACCACATTTGGGGGTCATTTTAAACAGCAAAATCACCAAGAAGAAAAACATAAAAATGTGAAGGATGTGGCACTGAATAGACAGAGAGAAGGACATGTTTACATTATGAGAGCTGACGCAAGAAGGTAGTGTGTCCCTTTGTTCAGCCTCAGCTGGGAACATACGCATCGGACAAGCACATTCTCCACTACGCTACACATATGTACGTCCCTGAGTGGTCTCAAAAGCACCATGAGTATTGATATTTATTGACATTGGGGGTTACAAATGAATTTTAGCAAGTAGGAGAATTTGCATAGGTGGAATATGTGAATAAGAATCAATTGTATTTTCAAAACAGGACAGTGAACAACACAAAGAAAAAGATAAGCCTAAAATCCCACAACCCAAAATTCTGGCACATGTCTTTCTAGAATTTTTATTTTACTTTATTTTATGTGTTTATTTTTTTGAAACGGAGTTTTGCTCTTGTCGCCCAGGCTGAAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTATAAGCACCCACCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCACATTGGCCAGGCTGGTCTCAAACTCCTGACCTCTGGTGATCCACCAGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCCAGCCTCTAGAATATTTTCTATTTATGAGAGACAATTGCATGCTAGGGATGGACTCACAGCCAACAGCACTGTAACTCCTGTCTGGGGAAGCTTCTCTAACACATGTATTTTCTCCATAAGGCACGTCTTGTGCATAGGATGGCACAAGGAAAATGCATAGGGATGCATTTTCAAATCTTTTTCATACTCC
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Task1_train_11192
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Given this variant in gene EGFR (epidermal growth factor receptor) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Cowden syndrome 1
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TTTCCCACACTAGTGGAACACTAGGCTGCAAAGACAGTAACTTGGGCTTTCTGACGGGAGTCAACACCGTGCTGCGCTTCCTCCGTGTGTGGCGCTGAGTGTACTTACCTCACTTGCCCAGCGTGTCCTCTCTCCTCCATAGGTCTGCCGCAAATTCCGAGACGAAGCCACGTGCAAGGACACCTGCCCCCCACTCATGCTCTACAACCCCACCACGTACCAGATGGATGTGAACCCCGAGGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTCCCCGTGAGTCCTCCTCTGTGGGCCCTCTAACTGGTCAGGCATCCTTGTCCCGCTCTGTCTCCTGCTGAGCCCTGGAGTATCCCATCTTGGAGAGTCTTTGGGTGGATGTGTTTGCCTTGCTTGGAGGAGGCGACCCTGTGCCCGTCCAGGCACACAGGCGAGGGGAGGGGCTGGCTTGCTACCGAGGAGCGGGCAGGTGGTGGCCATCTCCACCCATGGGGGCTGCTCAGTGCACAGGGCAGATCTGGGTGGCCAGGCCACCTCACAGGAGAAACACCTGCTGCTCAGCCCTCACCACTCATCCAGCAGCCACAGCCGTGGGTATTCAGTTGTCTGCTGGGCACAAAGCCGTGGGCATGCCACTGTTTAGTGCTTGTGCCAAGCAGGTATTTAATACACCGAAATCAGAGAGTCTATCAGAAGACCTGCCTTCTTGAGTGGTTAAAATTCTAGTGAAAGTTATGCCTCTTAGGAGTATTGCAGAGGTTTTGTTTTTGTTTTTATTTTGTTTTGTTTTAATGGTTTGGGTTTGAGTTTTGCTTGTTTGTACTTACATTTGTACTGGTGGCTCCAGGGTTTAGGGAAATTGTGACATAAAATAATTCCTGACAGAGAAAGCAAAACTTTGTCTAATGAAAGAGTTTTAGAAGCCACTCTTGATCTCTAGAAGGGGAGATTAACTGAGAAAAAAAATTGAAAGAACAATTATGAGGGGGAGATTTTACCCTGCCAGATTTGTGTACATGAAAAATTTTACATTCCGTATGGAAAAAAAAAACACAAAATAATAAGCCATTATAAGGTAAATGACAAACAAAGCTAAAGAAAAATGTGCCACAGTGATGACACAGATATATCTTTGAGATAGGGCTTAACAGAGCTTTAAAATCCATAGGAAAACACTTCGAGCCTGAGATACCAAGAGCAGATGGTTCACAGAAGAATCATCAATGTCCTATAAATATTTTTGAGGATCTTCTTGGGGAACTTAAAACAGGAACAGGCCAGGCACAGTGGCTCATTGGCTCATGCCTTTAATCCCAGCACTTTGGGAGACTGAAGGGGCTGGATTGTCTGAGGTCAGGAGTTTGGGACCAGCCTGGCCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACGCCTGTAATCACAGCCGCTCAGGAGGCTGAGGCAGGAGAATTGCTTTAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAGACAAACAAAAAAGGAAGACATAGAGCTCCTAAAAATAACGCAGAAGTCTGCTATTAATACAAATGAATTACTTTAAAGGTGAGAGCAGGTGGAGGAGAGGGCTGAGGTGCCTGCTGGGACGCAAAACAGCTGGCCCCTCAAGGGACCCAGTGTTTCCTGCCATGATGAAACACCTGTATTGTCCACATTGCGGCCTAGAATGTTATTAAACTCTTGAACGGGATTCCTTCTCTATTTGCAACCTTTCATTCTTTGTCCTTAAAGTAAATAAAGCCAAAGGAGGATGGAGCCTTTCCATCACCCCTCAAGAGGACCTGGACCGCCTGTGTGAGGCCCGAGCACCTGGTGCCACCGTCATCACCTTCCTTTCATGCTCTCTTCCCCAGGTAATTATGTGGTGACAGATCACGGCTCGTGCGTCCGAGCCTGTGGGGCCGACAGCTATGAGATGGAGGAAGACGGCGTCCGCAAGTGTAAGAAGTGCGAAGGGCCTTGCCGCAAAGGTAGGAAGCCCGCCGGTGTGCGGACGAGGCTTGTTCTCGGCTGCTGAGGCTGGGCTCTCATGCCACCTCCAAAGGAACACATCTTCCTCTTCTCATTAAAAAACAACTATACATATCGTTTCTTTAAAACAGAAGATAAAGCTGTAAAGCTAGGTTAGGCAATGGGAAGGCACTGAAGGTTGTGACGGGGTGGGGGGCTCTGATGAGAACAGTCACAGAGCCAGCCCCGCTCAGCAGCTGCCAGGTGCCCAGCCCTGGGGAGAATCCAGGGAAGGCAGAGCTGGAAGCAGTGCAGCTCCAAGCGGCCCATGGGAAATAATGAGGAGAACGCAAGGTCAGTGTGAGGTGACAGGGATGGCATCTCCTACACCGCCGTAGCCCCAAAGTGTACTATAGGTCCTGGTGTCCCCCCTTCCCGCCTGCACTCTCCCCAGCCCCTTCAGTGTTTGTTGAGTGAATGAAGGATGATGTGGCAGTGGCGGTTCCGGTGACCGGAATTCCTTCCTGCTTCCCTCTGCCTGTGGATCCCTAGCTATTCTTAATCCAACAAATGTGAACGGAATACACGTCTCTCTTATCTCTGCAGTGTGTAACGGAATAGGTATTGGTGAATTTAAAGACTCACTCTCCATAAATGCTACGAATATTAAACACTTCAAAAACTGCACCTCCATCAGTGGCGATCTCCACATCCTGCCGGTGGCATTTAGGGGGTGAGTCACAGGTTCAGTTGCTTGTATAAAGAAAAACAAAATCTGCCTTTTTAACTGGTAGAGATTGGTGATCAATAATCACCCTGTTGTTTGTTTCAGTGACTCCTTCACACATACTCCTCCTCTGGATCCACAGGAACTGGATATTCTGAAAACCGTAAAGGAAATCACAGGTTTGAGCTGAATTATCACATGAATATAAATGGGAAATCAGTGTTTTAGAGAGAGAACTTTTCGACATATTTCCTGTTCCCTTGGAATAAAAACATTTCTTCTGAAATTTTACCGTTAATGGCTGATGTTTTGATATTTTTCAAAAGTGCAGTTTCTCCTGCAGGCAAAAGGGGACACGTTAAGTCCAGGCTTGGGTCATTCACTGCGGTGTAAACACGCTTTCTCCCTCCCGCCCGGCCCCAGCCAGCTGCCTTGGTGGCCCATAACCCCTGAGGGTAGAGGGAGGGGACAGGGGTAGGTGACAGGCAGCCTGGGCCTCAGGCTTTTGAAACTGGACGCCAGAGCCTTGTGGGGCCACGGGCAAGCCTCGGGTCTATGACTGCCGCCTGAGCTCCGCTTCCTTCCTCTCTAAAATGGGAAGATTAGACCAAAATAACAAGACTGTTTTAAGGTTGGAATCAAATAAGGAAAATTTGTAAAGCTCCTTGTATGTGATACCAGATCCACAATTGGCAGATAATCGCAGCAGGAGCCTCTTCGGGGTAATCAGATACGCGGCGCAGCAGGGGTCTCAGGGCCACAGCCAGGGGGGCGGCGGGAGACATGCGGAATCGCAGCGGAAGGCGGGAGGCAGCTGTGAACTGTGGCTCGGCCTGCGTCCGCCCTGCGCATGTACACTCAGAGAAGATGATAATGAAAAAGAAAGCAAATCCAATTTTCCCACTTACTGTTCATATAATACAGAGTCCCTGAGAGTCTAGAGTAATGTCTCATACAAAAAAGAAACTCCTACGTGGTGTGTGTCTGAAGTCTTTCATCTGCCTTACAGGGTTTTTGCTGATTCAGGCTTGGCCTGAAAACAGGACGGACCTCCATGCCTTTGAGAACCTAGAAATCATACGCGGCAGGACCAAGCAACAGTAAGTTGACCACAGCCAAAGCCTGGTAGATTACATTTGCCTTTTTAGTTGGAAATTAGGCTTAACAGGAGAGTTGCTAAGATAGGGCACAGAGCTCCTGCATCTCTCGCCGGCATTCCCAAATGCTATCTCACATGAGCAGGCACAGGGAGCAAGACTGCACGACCACTGGCACAGGCTGTCCGCTAAACCACAGACTTCTCAGCGCTCG
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TTTCCCACACTAGTGGAACACTAGGCTGCAAAGACAGTAACTTGGGCTTTCTGACGGGAGTCAACACCGTGCTGCGCTTCCTCCGTGTGTGGCGCTGAGTGTACTTACCTCACTTGCCCAGCGTGTCCTCTCTCCTCCATAGGTCTGCCGCAAATTCCGAGACGAAGCCACGTGCAAGGACACCTGCCCCCCACTCATGCTCTACAACCCCACCACGTACCAGATGGATGTGAACCCCGAGGGCAAATACAGCTTTGGTGCCACCTGCGTGAAGAAGTGTCCCCGTGAGTCCTCCTCTGTGGGCCCTCTAACTGGTCAGGCATCCTTGTCCCGCTCTGTCTCCTGCTGAGCCCTGGAGTATCCCATCTTGGAGAGTCTTTGGGTGGATGTGTTTGCCTTGCTTGGAGGAGGCGACCCTGTGCCCGTCCAGGCACACAGGCGAGGGGAGGGGCTGGCTTGCTACCGAGGAGCGGGCAGGTGGTGGCCATCTCCACCCATGGGGGCTGCTCAGTGCACAGGGCAGATCTGGGTGGCCAGGCCACCTCACAGGAGAAACACCTGCTGCTCAGCCCTCACCACTCATCCAGCAGCCACAGCCGTGGGTATTCAGTTGTCTGCTGGGCACAAAGCCGTGGGCATGCCACTGTTTAGTGCTTGTGCCAAGCAGGTATTTAATACACCGAAATCAGAGAGTCTATCAGAAGACCTGCCTTCTTGAGTGGTTAAAATTCTAGTGAAAGTTATGCCTCTTAGGAGTATTGCAGAGGTTTTGTTTTTGTTTTTATTTTGTTTTGTTTTAATGGTTTGGGTTTGAGTTTTGCTTGTTTGTACTTACATTTGTACTGGTGGCTCCAGGGTTTAGGGAAATTGTGACATAAAATAATTCCTGACAGAGAAAGCAAAACTTTGTCTAATGAAAGAGTTTTAGAAGCCACTCTTGATCTCTAGAAGGGGAGATTAACTGAGAAAAAAAATTGAAAGAACAATTATGAGGGGGAGATTTTACCCTGCCAGATTTGTGTACATGAAAAATTTTACATTCCGTATGGAAAAAAAAAACACAAAATAATAAGCCATTATAAGGTAAATGACAAACAAAGCTAAAGAAAAATGTGCCACAGTGATGACACAGATATATCTTTGAGATAGGGCTTAACAGAGCTTTAAAATCCATAGGAAAACACTTCGAGCCTGAGATACCAAGAGCAGATGGTTCACAGAAGAATCATCAATGTCCTATAAATATTTTTGAGGATCTTCTTGGGGAACTTAAAACAGGAACAGGCCAGGCACAGTGGCTCATTGGCTCATGCCTTTAATCCCAGCACTTTGGGAGACTGAAGGGGCTGGATTGTCTGAGGTCAGGAGTTTGGGACCAGCCTGGCCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCACGCCTGTAATCACAGCCGCTCAGGAGGCTGAGGCAGGAGAATTGCTTTAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAGACAAACAAAAAAGGAAGACATAGAGCTCCTAAAAATAACGCAGAAGTCTGCTATTAATACAAATGAATTACTTTAAAGGTGAGAGCAGGTGGAGGAGAGGGCTGAGGTGCCTGCTGGGACGCAAAACAGCTGGCCCCTCAAGGGACCCAGTGTTTCCTGCCATGATGAAACACCTGTATTGTCCACATTGCGGCCTAGAATGTTATTAAACTCTTGAACGGGATTCCTTCTCTATTTGCAACCTTTCATTCTTTGTCCTTAAAGTAAATAAAGCCAAAGGAGGATGGAGCCTTTCCATCACCCCTCAAGAGGACCTGGACCGCCTGTGTGAGGCCCGAGCACCTGGTGCCACCGTCATCACCTTCCTTTCATGCTCTCTTCCCCAGGTAATTATGTGGTGACAGATCACGGCTCGTGCGTCCGAGCCTGTGGGGCCGACAGCTATGAGATGGAGGAAGACGGCGTCCGCAAGTTTAAGAAGTGCGAAGGGCCTTGCCGCAAAGGTAGGAAGCCCGCCGGTGTGCGGACGAGGCTTGTTCTCGGCTGCTGAGGCTGGGCTCTCATGCCACCTCCAAAGGAACACATCTTCCTCTTCTCATTAAAAAACAACTATACATATCGTTTCTTTAAAACAGAAGATAAAGCTGTAAAGCTAGGTTAGGCAATGGGAAGGCACTGAAGGTTGTGACGGGGTGGGGGGCTCTGATGAGAACAGTCACAGAGCCAGCCCCGCTCAGCAGCTGCCAGGTGCCCAGCCCTGGGGAGAATCCAGGGAAGGCAGAGCTGGAAGCAGTGCAGCTCCAAGCGGCCCATGGGAAATAATGAGGAGAACGCAAGGTCAGTGTGAGGTGACAGGGATGGCATCTCCTACACCGCCGTAGCCCCAAAGTGTACTATAGGTCCTGGTGTCCCCCCTTCCCGCCTGCACTCTCCCCAGCCCCTTCAGTGTTTGTTGAGTGAATGAAGGATGATGTGGCAGTGGCGGTTCCGGTGACCGGAATTCCTTCCTGCTTCCCTCTGCCTGTGGATCCCTAGCTATTCTTAATCCAACAAATGTGAACGGAATACACGTCTCTCTTATCTCTGCAGTGTGTAACGGAATAGGTATTGGTGAATTTAAAGACTCACTCTCCATAAATGCTACGAATATTAAACACTTCAAAAACTGCACCTCCATCAGTGGCGATCTCCACATCCTGCCGGTGGCATTTAGGGGGTGAGTCACAGGTTCAGTTGCTTGTATAAAGAAAAACAAAATCTGCCTTTTTAACTGGTAGAGATTGGTGATCAATAATCACCCTGTTGTTTGTTTCAGTGACTCCTTCACACATACTCCTCCTCTGGATCCACAGGAACTGGATATTCTGAAAACCGTAAAGGAAATCACAGGTTTGAGCTGAATTATCACATGAATATAAATGGGAAATCAGTGTTTTAGAGAGAGAACTTTTCGACATATTTCCTGTTCCCTTGGAATAAAAACATTTCTTCTGAAATTTTACCGTTAATGGCTGATGTTTTGATATTTTTCAAAAGTGCAGTTTCTCCTGCAGGCAAAAGGGGACACGTTAAGTCCAGGCTTGGGTCATTCACTGCGGTGTAAACACGCTTTCTCCCTCCCGCCCGGCCCCAGCCAGCTGCCTTGGTGGCCCATAACCCCTGAGGGTAGAGGGAGGGGACAGGGGTAGGTGACAGGCAGCCTGGGCCTCAGGCTTTTGAAACTGGACGCCAGAGCCTTGTGGGGCCACGGGCAAGCCTCGGGTCTATGACTGCCGCCTGAGCTCCGCTTCCTTCCTCTCTAAAATGGGAAGATTAGACCAAAATAACAAGACTGTTTTAAGGTTGGAATCAAATAAGGAAAATTTGTAAAGCTCCTTGTATGTGATACCAGATCCACAATTGGCAGATAATCGCAGCAGGAGCCTCTTCGGGGTAATCAGATACGCGGCGCAGCAGGGGTCTCAGGGCCACAGCCAGGGGGGCGGCGGGAGACATGCGGAATCGCAGCGGAAGGCGGGAGGCAGCTGTGAACTGTGGCTCGGCCTGCGTCCGCCCTGCGCATGTACACTCAGAGAAGATGATAATGAAAAAGAAAGCAAATCCAATTTTCCCACTTACTGTTCATATAATACAGAGTCCCTGAGAGTCTAGAGTAATGTCTCATACAAAAAAGAAACTCCTACGTGGTGTGTGTCTGAAGTCTTTCATCTGCCTTACAGGGTTTTTGCTGATTCAGGCTTGGCCTGAAAACAGGACGGACCTCCATGCCTTTGAGAACCTAGAAATCATACGCGGCAGGACCAAGCAACAGTAAGTTGACCACAGCCAAAGCCTGGTAGATTACATTTGCCTTTTTAGTTGGAAATTAGGCTTAACAGGAGAGTTGCTAAGATAGGGCACAGAGCTCCTGCATCTCTCGCCGGCATTCCCAAATGCTATCTCACATGAGCAGGCACAGGGAGCAAGACTGCACGACCACTGGCACAGGCTGTCCGCTAAACCACAGACTTCTCAGCGCTCG
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Task1_train_11193
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A variant has been detected on Chromosome 7 in EGFR (epidermal growth factor receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; EGFR-related lung cancer
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CATTCTTTGTCCTTAAAGTAAATAAAGCCAAAGGAGGATGGAGCCTTTCCATCACCCCTCAAGAGGACCTGGACCGCCTGTGTGAGGCCCGAGCACCTGGTGCCACCGTCATCACCTTCCTTTCATGCTCTCTTCCCCAGGTAATTATGTGGTGACAGATCACGGCTCGTGCGTCCGAGCCTGTGGGGCCGACAGCTATGAGATGGAGGAAGACGGCGTCCGCAAGTGTAAGAAGTGCGAAGGGCCTTGCCGCAAAGGTAGGAAGCCCGCCGGTGTGCGGACGAGGCTTGTTCTCGGCTGCTGAGGCTGGGCTCTCATGCCACCTCCAAAGGAACACATCTTCCTCTTCTCATTAAAAAACAACTATACATATCGTTTCTTTAAAACAGAAGATAAAGCTGTAAAGCTAGGTTAGGCAATGGGAAGGCACTGAAGGTTGTGACGGGGTGGGGGGCTCTGATGAGAACAGTCACAGAGCCAGCCCCGCTCAGCAGCTGCCAGGTGCCCAGCCCTGGGGAGAATCCAGGGAAGGCAGAGCTGGAAGCAGTGCAGCTCCAAGCGGCCCATGGGAAATAATGAGGAGAACGCAAGGTCAGTGTGAGGTGACAGGGATGGCATCTCCTACACCGCCGTAGCCCCAAAGTGTACTATAGGTCCTGGTGTCCCCCCTTCCCGCCTGCACTCTCCCCAGCCCCTTCAGTGTTTGTTGAGTGAATGAAGGATGATGTGGCAGTGGCGGTTCCGGTGACCGGAATTCCTTCCTGCTTCCCTCTGCCTGTGGATCCCTAGCTATTCTTAATCCAACAAATGTGAACGGAATACACGTCTCTCTTATCTCTGCAGTGTGTAACGGAATAGGTATTGGTGAATTTAAAGACTCACTCTCCATAAATGCTACGAATATTAAACACTTCAAAAACTGCACCTCCATCAGTGGCGATCTCCACATCCTGCCGGTGGCATTTAGGGGGTGAGTCACAGGTTCAGTTGCTTGTATAAAGAAAAACAAAATCTGCCTTTTTAACTGGTAGAGATTGGTGATCAATAATCACCCTGTTGTTTGTTTCAGTGACTCCTTCACACATACTCCTCCTCTGGATCCACAGGAACTGGATATTCTGAAAACCGTAAAGGAAATCACAGGTTTGAGCTGAATTATCACATGAATATAAATGGGAAATCAGTGTTTTAGAGAGAGAACTTTTCGACATATTTCCTGTTCCCTTGGAATAAAAACATTTCTTCTGAAATTTTACCGTTAATGGCTGATGTTTTGATATTTTTCAAAAGTGCAGTTTCTCCTGCAGGCAAAAGGGGACACGTTAAGTCCAGGCTTGGGTCATTCACTGCGGTGTAAACACGCTTTCTCCCTCCCGCCCGGCCCCAGCCAGCTGCCTTGGTGGCCCATAACCCCTGAGGGTAGAGGGAGGGGACAGGGGTAGGTGACAGGCAGCCTGGGCCTCAGGCTTTTGAAACTGGACGCCAGAGCCTTGTGGGGCCACGGGCAAGCCTCGGGTCTATGACTGCCGCCTGAGCTCCGCTTCCTTCCTCTCTAAAATGGGAAGATTAGACCAAAATAACAAGACTGTTTTAAGGTTGGAATCAAATAAGGAAAATTTGTAAAGCTCCTTGTATGTGATACCAGATCCACAATTGGCAGATAATCGCAGCAGGAGCCTCTTCGGGGTAATCAGATACGCGGCGCAGCAGGGGTCTCAGGGCCACAGCCAGGGGGGCGGCGGGAGACATGCGGAATCGCAGCGGAAGGCGGGAGGCAGCTGTGAACTGTGGCTCGGCCTGCGTCCGCCCTGCGCATGTACACTCAGAGAAGATGATAATGAAAAAGAAAGCAAATCCAATTTTCCCACTTACTGTTCATATAATACAGAGTCCCTGAGAGTCTAGAGTAATGTCTCATACAAAAAAGAAACTCCTACGTGGTGTGTGTCTGAAGTCTTTCATCTGCCTTACAGGGTTTTTGCTGATTCAGGCTTGGCCTGAAAACAGGACGGACCTCCATGCCTTTGAGAACCTAGAAATCATACGCGGCAGGACCAAGCAACAGTAAGTTGACCACAGCCAAAGCCTGGTAGATTACATTTGCCTTTTTAGTTGGAAATTAGGCTTAACAGGAGAGTTGCTAAGATAGGGCACAGAGCTCCTGCATCTCTCGCCGGCATTCCCAAATGCTATCTCACATGAGCAGGCACAGGGAGCAAGACTGCACGACCACTGGCACAGGCTGTCCGCTAAACCACAGACTTCTCAGCGCTCGCCAGTGCTTCTGCTTCTGTGTCCACTCCAGATCCCACATTGCACTTAGTTGTCAAATCTTTTCAGTCCATTTCTAACCTATATTAGCTCCTGTGTCTTTCCTTGTCTTTCACGGCCTTGACACTTACAAAACGTGTGGGTCAGGTACTTTGCACACTGTCTAACCATGTCTGTTCAGCTGGTGTTTTCTCAGGATGCAATTGAGGTTATGCACATCTTATCACAGGGACCAGAGAGACTTTTTAGCACCACTCTTCAAGAATTTCCACTTTTTCAGCTTTGACAGTGGAATAGACATGCAGGTGCTCACACACAAGCATCTTTAATATGGTAATGGTAATCATCAGTTTAGTGGTGTGGAGGAGGAGATGGGAATCTCTTAGTGAAACCCGCCTTGGAAGCAGCCTCGTTATGAGAACTGCTGCCCCTACTTGACTCTTAAAGCACTAGATAATACTGTGCAACATTAAAGAGAATAAGAGTGCGTGAAATATGCATTGCCTCCCATAAACTCCCTTGGCTCTGAATCTCTGATACTAAATATGTGGCTACCGTTGCTTCCCAGAAAGGCCTTTTTGCTCTGAATTCTCTGGAATGCTTTCTTTGACCAAGATTCTTATAAAAATAAGAGATTTAGAGCAATTTTCTTGGATGGCTGGTATGAGCCAGTTGGCTTAGTTGTAGGGATTTAAACAAGATAAGGGTTACTTACTTTTCACATTTAATGAGAAGTCTGGTGATTCCAGCTCCTACTGAGACAGGGTGGCCACACGTTCCAGGGTGTGACTCACTGAGGCCCCAGACCTGCCCTGCAAGGAAAACCTGGCTCTGCCCTGGTGTCCTGGCCTCCCTGGGCATATGTGGGGGAGAATTCCTAATGGTATTGGTTACAGGCTCCTATGCGAGACCACTCATCTGTGTAGGAGAAAGGAAAAAGATGGGGGAAAGAAGAGCAGCAGGGAGAGGAGAAGCCTCTGGATGATACTCTAACCCCCTGCCATCCAACACCTGAACATCAGTCTCTTCATCCAGTGCTCTCAGCTGGCCCAGCCCCCAGCCTGGGGTCAGATGAGAGCTTCCTGCAAATGCAGATCTCTTTCCTGTGGCTCCTTCTCAATTACAGACAGCTCCTCCACAAGGTGCACTCTGGCCTTGTGCTCCCTCCCCAAACCAGCCCAGCCCTCCCAGCCTGCATCATCGTGGTCCTGTAGGGGCTAGAGGTTCTCACACCCATCGTGGTCTGGCAGAGGCTGGTGGTTCTCACACCCATCGTGGTCCGGCAGGGGCTTAGTGGTTCTTATACCCATCGTGGTTCAGGAGGGGCTAGTGGTTCTCACACCCATCGTGGTCTGGCTGGGGCTAGTGGTTCTCATGTCCACCGCGTGCTTTCCTGCTCCTCCAGGTGGCTGAGGACATCCCCCCTTCGGTCTGAATGACTTCCATCCAGTCATCTGATATACACATTGGACCACCCAATAGCATCCTAGTGTCATGTTGGATGGTGAAGAAAATGCCACAGTTACTGCTTTCAGGGCCTCACAACCTTGGGCATAGCTTTTTGGAGGAAGGCCCCACTTCCCAGGCATCCCTCCCAGACCTGGTCAGAGGCCCCTGCTCTTTGCTTCCATGTTGCCCACACTCACTGTGCTCTTCACACCGGCTCAAAATGATCTGCTTACGGGGTTGTGTCACCACCAGATCAAGCGTCCTGGAGAGGAGGAAACATATTTAACCTGCACAGAATTTGGGACAGAGAACCTCTAGTGTTTGTTCAATAAATATATGAATGGATAGAGGGACAGGTTGGGTGGTGGATAGATGG
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CATTCTTTGTCCTTAAAGTAAATAAAGCCAAAGGAGGATGGAGCCTTTCCATCACCCCTCAAGAGGACCTGGACCGCCTGTGTGAGGCCCGAGCACCTGGTGCCACCGTCATCACCTTCCTTTCATGCTCTCTTCCCCAGGTAATTATGTGGTGACAGATCACGGCTCGTGCGTCCGAGCCTGTGGGGCCGACAGCTATGAGATGGAGGAAGACGGCGTCCGCAAGTGTAAGAAGTGCGAAGGGCCTTGCCGCAAAGGTAGGAAGCCCGCCGGTGTGCGGACGAGGCTTGTTCTCGGCTGCTGAGGCTGGGCTCTCATGCCACCTCCAAAGGAACACATCTTCCTCTTCTCATTAAAAAACAACTATACATATCGTTTCTTTAAAACAGAAGATAAAGCTGTAAAGCTAGGTTAGGCAATGGGAAGGCACTGAAGGTTGTGACGGGGTGGGGGGCTCTGATGAGAACAGTCACAGAGCCAGCCCCGCTCAGCAGCTGCCAGGTGCCCAGCCCTGGGGAGAATCCAGGGAAGGCAGAGCTGGAAGCAGTGCAGCTCCAAGCGGCCCATGGGAAATAATGAGGAGAACGCAAGGTCAGTGTGAGGTGACAGGGATGGCATCTCCTACACCGCCGTAGCCCCAAAGTGTACTATAGGTCCTGGTGTCCCCCCTTCCCGCCTGCACTCTCCCCAGCCCCTTCAGTGTTTGTTGAGTGAATGAAGGATGATGTGGCAGTGGCGGTTCCGGTGACCGGAATTCCTTCCTGCTTCCCTCTGCCTGTGGATCCCTAGCTATTCTTAATCCAACAAATGTGAACGGAATACACGTCTCTCTTATCTCTGCAGTGTGTAACGGAATAGGTATTGGTGAATTTAAAGACTCACTCTCCATAAATGCTACGAATATTAAACACTTCAAAAACTGCACCTCCATCAGTGGCGATCTCCACATCCTGCCGGTGGCATTTAGGGGGTGAGTCACAGGTTCAGTTGCTTGTATAAAGAAAAACAAAATCTGCCTTTTTAACTGGTAGAGATTGGTGATCAATAATCACCCTGTTGTTTGTTTCAGTGACTCCTTCACACATACTCCTCCTCTGGATCCACAGGAACTGGATATTCTGAAAACCGTAAAGGAAATCACAGGTTTGAGCTGAATTATCACATGAATATAAATGGGAAATCAGTGTTTTAGAGAGAGAACTTTTCGACATATTTCCTGTTCCCTTGGAATAAAAACATTTCTTCTGAAATTTTACCGTTAATGGCTGATGTTTTGATATTTTTCAAAAGTGCAGTTTCTCCTGCAGGCAAAAGGGGACACGTTAAGTCCAGGCTTGGGTCATTCACTGCGGTGTAAACACGCTTTCTCCCTCCCGCCCGGCCCCAGCCAGCTGCCTTGGTGGCCCATAACCCCTGAGGGTAGAGGGAGGGGACAGGGGTAGGTGACAGGCAGCCTGGGCCTCAGGCTTTTGAAACTGGACGCCAGAGCCTTGTGGGGCCACGGGCAAGCCTCGGGTCTATGACTGCCGCCTGAGCTCCGCTTCCTTCCTCTCTAAAATGGGAAGATTAGACCAAAATAACAAGACTGTTTTAAGGTTGGAATCAAATAAGGAAAATTTGTAAAGCTCCTTGTATGTGATACCAGATCCACAATTGGCAGATAATCGCAGCAGGAGCCTCTTCGGGGTAATCAGATACGCGGCGCAGCAGGGGTCTCAGGGCCACAGCCAGGGGGGCGGCGGGAGACATGCGGAATCGCAGCGGAAGGCGGGAGGCAGCTGTGAACTGTGGCTCGGCCTGCGTCCGCCCTGCGCATGTACACTCAGAGAAGATGATAATGAAAAAGAAAGCAAATCCAATTTTCCCACTTACTGTTCATATAATACAGAGTCCCTGAGAGTCTAGAGTAATGTCTCATACAAAAAAGAAACTCCTACGTGGTGTGTGTCTGAAGTCTTTCATCTGCCTTACAGGGTTTTTGCTGATTCAGGCTTGGCCTGAAAACAGGACGGACCTCCATGCCTTTGAGAACCTAGAAATCATACGCGACAGGACCAAGCAACAGTAAGTTGACCACAGCCAAAGCCTGGTAGATTACATTTGCCTTTTTAGTTGGAAATTAGGCTTAACAGGAGAGTTGCTAAGATAGGGCACAGAGCTCCTGCATCTCTCGCCGGCATTCCCAAATGCTATCTCACATGAGCAGGCACAGGGAGCAAGACTGCACGACCACTGGCACAGGCTGTCCGCTAAACCACAGACTTCTCAGCGCTCGCCAGTGCTTCTGCTTCTGTGTCCACTCCAGATCCCACATTGCACTTAGTTGTCAAATCTTTTCAGTCCATTTCTAACCTATATTAGCTCCTGTGTCTTTCCTTGTCTTTCACGGCCTTGACACTTACAAAACGTGTGGGTCAGGTACTTTGCACACTGTCTAACCATGTCTGTTCAGCTGGTGTTTTCTCAGGATGCAATTGAGGTTATGCACATCTTATCACAGGGACCAGAGAGACTTTTTAGCACCACTCTTCAAGAATTTCCACTTTTTCAGCTTTGACAGTGGAATAGACATGCAGGTGCTCACACACAAGCATCTTTAATATGGTAATGGTAATCATCAGTTTAGTGGTGTGGAGGAGGAGATGGGAATCTCTTAGTGAAACCCGCCTTGGAAGCAGCCTCGTTATGAGAACTGCTGCCCCTACTTGACTCTTAAAGCACTAGATAATACTGTGCAACATTAAAGAGAATAAGAGTGCGTGAAATATGCATTGCCTCCCATAAACTCCCTTGGCTCTGAATCTCTGATACTAAATATGTGGCTACCGTTGCTTCCCAGAAAGGCCTTTTTGCTCTGAATTCTCTGGAATGCTTTCTTTGACCAAGATTCTTATAAAAATAAGAGATTTAGAGCAATTTTCTTGGATGGCTGGTATGAGCCAGTTGGCTTAGTTGTAGGGATTTAAACAAGATAAGGGTTACTTACTTTTCACATTTAATGAGAAGTCTGGTGATTCCAGCTCCTACTGAGACAGGGTGGCCACACGTTCCAGGGTGTGACTCACTGAGGCCCCAGACCTGCCCTGCAAGGAAAACCTGGCTCTGCCCTGGTGTCCTGGCCTCCCTGGGCATATGTGGGGGAGAATTCCTAATGGTATTGGTTACAGGCTCCTATGCGAGACCACTCATCTGTGTAGGAGAAAGGAAAAAGATGGGGGAAAGAAGAGCAGCAGGGAGAGGAGAAGCCTCTGGATGATACTCTAACCCCCTGCCATCCAACACCTGAACATCAGTCTCTTCATCCAGTGCTCTCAGCTGGCCCAGCCCCCAGCCTGGGGTCAGATGAGAGCTTCCTGCAAATGCAGATCTCTTTCCTGTGGCTCCTTCTCAATTACAGACAGCTCCTCCACAAGGTGCACTCTGGCCTTGTGCTCCCTCCCCAAACCAGCCCAGCCCTCCCAGCCTGCATCATCGTGGTCCTGTAGGGGCTAGAGGTTCTCACACCCATCGTGGTCTGGCAGAGGCTGGTGGTTCTCACACCCATCGTGGTCCGGCAGGGGCTTAGTGGTTCTTATACCCATCGTGGTTCAGGAGGGGCTAGTGGTTCTCACACCCATCGTGGTCTGGCTGGGGCTAGTGGTTCTCATGTCCACCGCGTGCTTTCCTGCTCCTCCAGGTGGCTGAGGACATCCCCCCTTCGGTCTGAATGACTTCCATCCAGTCATCTGATATACACATTGGACCACCCAATAGCATCCTAGTGTCATGTTGGATGGTGAAGAAAATGCCACAGTTACTGCTTTCAGGGCCTCACAACCTTGGGCATAGCTTTTTGGAGGAAGGCCCCACTTCCCAGGCATCCCTCCCAGACCTGGTCAGAGGCCCCTGCTCTTTGCTTCCATGTTGCCCACACTCACTGTGCTCTTCACACCGGCTCAAAATGATCTGCTTACGGGGTTGTGTCACCACCAGATCAAGCGTCCTGGAGAGGAGGAAACATATTTAACCTGCACAGAATTTGGGACAGAGAACCTCTAGTGTTTGTTCAATAAATATATGAATGGATAGAGGGACAGGTTGGGTGGTGGATAGATGG
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Task1_train_11194
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An alteration has been detected in EGFR (epidermal growth factor receptor) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Non-small cell lung carcinoma
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CAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACATCTGCTCTTTTCCATCTTTTTCTTCTCCTCCTGTTCACCCGCCCTTACTCTTGTGGCGCCCTATGGATATGCGCTCCATAGCAAATGATTCTTTATATCTTACGGTATTCTAGTGAGCTGGCACATGTGGCTTCTGGTTTCCTCTCTCTGGAACTAGACATGACCTCTGTGGGAGGGAGGATTAAATGCACCCTACAGTCTGAGGCTGCATGATGACATCACTCATCACAATGATGCTTTCTATGTCTGAATCCTATTCCTTTATAACCCCTTTCAAGCTCGTTCAGAGAGTATTTCACACAATCCATGTGCTCATCTTAAAAGCCAAGGACCCAGAGGAGTCTCAGCATTGCCAAAAAGTCCCTTCACCCAGCCTGGCCAGAGGCAGTGCCTGGTCCATGTGTATGGACTATGGCACTTCAATTGCATGGAAATACTCTTGGAATGAACAAAATACCAATCCATGAAAAAGCATTATTGAAGTCTAAGTTATTTTTTGAATCATATTTTGTTAATCAACAAATTGAAAAATACTCATTATATGGAGAGGTCCAGATAAAGCCTCAATTTTAAAAAATGAGGAAAAGTGTGCCTGGTAGGGGACTGGGGAGAGCTTGAGAAAGTTGGAAACGTTGCCTTAGAAGCCTGTTTTTTCTCCTTTTAGAAGCTACATAGTGTCTCACTTTCCAAGATCATTCTACAAGATGTCAGTGCACTGAAACATGCAGGGGCGTGTTGAGTGCCAAGGCCATGGAATCTGTCAGCAACCTCACCCTTCCTTGTTCCTCCACCTCATTCCAGGCCTAAGATCCCGTCCATCGCCACTGGGATGGTGGGGGCCCTCCTCTTGCTGCTGGTGGTGGCCCTGGGGATCGGCCTCTTCATGCGAAGGCGCCACATCGTTCGGAAGCGCACGCTGCGGAGGCTGCTGCAGGAGAGGGAGGTGAGTGCCAGTCCTGGGTGGGCTCAGGAGCCCTCGCACCCCGACAGGAACAAGGGCCAGCCCCGAGAACGGGCCATTAGCAGTTGTGTATGTTAGATACATAATTGTATTATGATGCAGAAAGAATCTCTGAATGTGCAGTTATACCCAGTTGGTGACATGTTGGTACATCCATCCGAGGAAATGGCAATGTTTCTAGGCTGCACCCTTCAATGTCCACAAAGCTGTGTGGCATCTGCTTAGGACCCGGTGCCTGTGTGTGCATAGGAGGGAGGCCAGGAAGCCTGGCTGTTGATCCCATGCTGGCACTGTGGCGAAGGCGAGAGATTCCTGCTTTGGAAAACACCATTGTCCACACAGTGGCTTTGTCCATGATGGACTTCGCCACAGCCCAGTCCTGTGCTGGAAGCCATGTTCTCTGGAAAGAGCAACCCAGCGGCTCATAAGCATAAGCGCGTGTGATGTGCCCCAACCAAACGACCGCCATGCACAACTTCCCTACCGGAGTTTTCAATCCAGTTAATAGGCGTGGAAACAGACATAGAAATTGTGTTTGTTGAAAGGTAGCTGTTCAGTTAAAGAACACCTGTATCAGAGCCTGTGTTTCTACCAACTTCTGTCAAGCTCTGTAGAGAAGGCGTACATTTGTCCTTCCAAATGAGCTGGCAAGTGCCGTGTCCTGGCACCCAAGCCCATGCCGTGGCTGCTGGTCCCCCTGCTGGGCCATGTCTGGCACTGCTTTCCAGCATGGTGAGGGCTGAGGTGACCCTTGTCTCTGTGTTCTTGTCCCCCCCAGCTTGTGGAGCCTCTTACACCCAGTGGAGAAGCTCCCAACCAAGCTCTCTTGAGGATCTTGAAGGAAACTGAATTCAAAAAGATCAAAGTGCTGGGCTCCGGTGCGTTCGGCACGGTGTATAAGGTAAGGTCCCTGGCACAGGCCTCTGGGCTGGGCCGCAGGGCCTCTCATGGTCTGGTGGGGAGCCCAGAGTCCTTGCAAGCTGTATATTTCCATCATCTACTTTACTCTTTGTTTCACTGAGTGTTTGGGAAACTCCAGTGTTTTTCCCAAGTTATTGAGAGGAAATCTTTTATAACCACAGTAATCAGTGGTCCTGTGAGACCAATTCACAGACCAAAGGCATTTTTATGAAAGGGGCCATTGACCTTGCCATGGGGTGCAGCACAGGGCGGGAGGAGGGCCGCCTCTCACCGCACGGCATCAGAATGCAGCCCAGCTGAAATGGGCTCATCTTCGTTTGCTTCTTCTAGATCCTCTTTGCATGAAATCTGATTTCAGTTAGGCCTAGACGCAGCATCATTAAATTCTGGATGAAATGATCCACACGGACTTTATAACAGGCTTTACAAGCTTGAGATTCTTTTATCTAAATAATCAGTGTGATTCGTGGAGCCCAACAGCTGCAGGGCTGCGGGGGCGTCACAGCCCCCAGCAATATCAGCCTTAGGTGCGGCTCCACAGCCCCAGTGTCCCTCACCTTCGGGGTGCATCGCTGGTAACATCCACCCAGATCACTGGGCAGCATGTGGCACCATCTCACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCCATGGCTCTGAACCTCAGGCCCACCTTTTCTCATGTCTGGCAGCTGCTCTGCTCTAGACCCTGCTCATCTCCACATCCTAAATGTTCACTTTCTATGTCTTTCCCTTTCTAGCTCTAGTGGGTATAACTCCCTCCCCTTAGAGACAGCACTGGCCTCTCCCATGCTGGTATCCACCCCAAAAGGCTGGAAACAGGCAATTACTGGCATCTACCCAGCACTAGTTTCTTGACACGCATGATGAGTGAGTGCTCTTGGTGAGCCTGGAGCATGGGTATTGTTTTTGGTATTTTTTGGATGAAGAAATGGAGGCATAAAGAAATTGGCTGACCCTTATATGGCTGGGATAGGGTTTAAGCCCCTTGTTATTTCTGACTCTGAAACTTGCATTCAATTCACTCCACCAAGTTATCTCATCTTTGAAATGGCTTTTTTTAAAGGTGCCTAGAATATGATGGCGTGCAGTCTATAAACTGTTGCCCACCTTCTGTACTTTCTCTCAGAATAATTCACATTCTTCTCCAGTGTCTGTTGATTGTTACTTTGTGGAATAAGTTCTTGGAAAATTCCACAAGATTATTGTTATCTTCTTACTACCAATTCTATTGAACTTTCTCCACCTTCTCTGGGCCTTCCCCAGCCAGTGGTGGGAAGATGCTGGCTGGAGTCTGACAGAGCCTCTTCTACACTGGCCTGGGCTTGCTGTGAGTTGGTGGAAACCTTTGCTCTTGTCCCAACACAGAGCAAGTGAAAGAGGAGGTCAAGGGGCTCAGGCAGCGGACTAGGGAAGCAGAATCGAGGAAAAGGAAAAATGGCTGACTTATTACCTCAAAACTCTAGAGAATTTAGTTGATCTTACAGCCAAGAAGGACAAAAGCCAGAGAGTAATATCCTCCGCCTCATGTCTAACCCACAGAATACATAGCAAGTAAAGAGAACATGGGCCTTTATAAAAATGTCTTAAGATACAATTTTTTAATTGGAGGAAATCTACAGTTTAATTTTCTCTGGGCAGCTTTTCTTCCTTTTATTATAGTAGGGGAAATCCCATGTTGATATACTTCTAAATGAAAGATGATGAATTGATATAATACAATAAAAAATCTGTAAAATTGATGATATACTTATCAAGAAAAATTAGCTTTCATTTTAACGGTTTACAAATTGAGTCAAGTCCTAGTAACAAAATGTTAAGTCTATTAACATAACCACAAG
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CAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACATCTGCTCTTTTCCATCTTTTTCTTCTCCTCCTGTTCACCCGCCCTTACTCTTGTGGCGCCCTATGGATATGCGCTCCATAGCAAATGATTCTTTATATCTTACGGTATTCTAGTGAGCTGGCACATGTGGCTTCTGGTTTCCTCTCTCTGGAACTAGACATGACCTCTGTGGGAGGGAGGATTAAATGCACCCTACAGTCTGAGGCTGCATGATGACATCACTCATCACAATGATGCTTTCTATGTCTGAATCCTATTCCTTTATAACCCCTTTCAAGCTCGTTCAGAGAGTATTTCACACAATCCATGTGCTCATCTTAAAAGCCAAGGACCCAGAGGAGTCTCAGCATTGCCAAAAAGTCCCTTCACCCAGCCTGGCCAGAGGCAGTGCCTGGTCCATGTGTATGGACTATGGCACTTCAATTGCATGGAAATACTCTTGGAATGAACAAAATACCAATCCATGAAAAAGCATTATTGAAGTCTAAGTTATTTTTTGAATCATATTTTGTTAATCAACAAATTGAAAAATACTCATTATATGGAGAGGTCCAGATAAAGCCTCAATTTTAAAAAATGAGGAAAAGTGTGCCTGGTAGGGGACTGGGGAGAGCTTGAGAAAGTTGGAAACGTTGCCTTAGAAGCCTGTTTTTTCTCCTTTTAGAAGCTACATAGTGTCTCACTTTCCAAGATCATTCTACAAGATGTCAGTGCACTGAAACATGCAGGGGCGTGTTGAGTGCCAAGGCCATGGAATCTGTCAGCAACCTCACCCTTCCTTGTTCCTCCACCTCATTCCAGGCCTAAGATCCCGTCCATCGCCACTGGGATGGTGGGGGCCCTCCTCTTGCTGCTGGTGGTGGCCCTGGGGATCGGCCTCTTCATGCGAAGGCGCCACATCGTTCGGAAGCGCACGCTGCGGAGGCTGCTGCAGGAGAGGGAGGTGAGTGCCAGTCCTGGGTGGGCTCAGGAGCCCTCGCACCCCGACAGGAACAAGGGCCAGCCCCGAGAACGGGCCATTAGCAGTTGTGTATGTTAGATACATAATTGTATTATGATGCAGAAAGAATCTCTGAATGTGCAGTTATACCCAGTTGGTGACATGTTGGTACATCCATCCGAGGAAATGGCAATGTTTCTAGGCTGCACCCTTCAATGTCCACAAAGCTGTGTGGCATCTGCTTAGGACCCGGTGCCTGTGTGTGCATAGGAGGGAGGCCAGGAAGCCTGGCTGTTGATCCCATGCTGGCACTGTGGCGAAGGCGAGAGATTCCTGCTTTGGAAAACACCATTGTCCACACAGTGGCTTTGTCCATGATGGACTTCGCCACAGCCCAGTCCTGTGCTGGAAGCCATGTTCTCTGGAAAGAGCAACCCAGCGGCTCATAAGCATAAGCGCGTGTGATGTGCCCCAACCAAACGACCGCCATGCACAACTTCCCTACCGGAGTTTTCAATCCAGTTAATAGGCGTGGAAACAGACATAGAAATTGTGTTTGTTGAAAGGTAGCTGTTCAGTTAAAGAACACCTGTATCAGAGCCTGTGTTTCTACCAACTTCTGTCAAGCTCTGTAGAGAAGGCGTACATTTGTCCTTCCAAATGAGCTGGCAAGTGCCGTGTCCTGGCACCCAAGCCCATGCCGTGGCTGCTGGTCCCCCTGCTGGGCCATGTCTGGCACTGCTTTCCAGCATGGTGAGGGCTGAGGTGACCCTTGTCTCTGTGTTCTTGTCCCCCCCAGCTTGTGGAGCCTCTTACACCCAGTGGAGAAGCTCCCAACCAAGCTCTCTTGAGGATCTTGAAGGAAACTGAATTCAAAAAGATCAAAGTGCTGGCCTCCGGTGCGTTCGGCACGGTGTATAAGGTAAGGTCCCTGGCACAGGCCTCTGGGCTGGGCCGCAGGGCCTCTCATGGTCTGGTGGGGAGCCCAGAGTCCTTGCAAGCTGTATATTTCCATCATCTACTTTACTCTTTGTTTCACTGAGTGTTTGGGAAACTCCAGTGTTTTTCCCAAGTTATTGAGAGGAAATCTTTTATAACCACAGTAATCAGTGGTCCTGTGAGACCAATTCACAGACCAAAGGCATTTTTATGAAAGGGGCCATTGACCTTGCCATGGGGTGCAGCACAGGGCGGGAGGAGGGCCGCCTCTCACCGCACGGCATCAGAATGCAGCCCAGCTGAAATGGGCTCATCTTCGTTTGCTTCTTCTAGATCCTCTTTGCATGAAATCTGATTTCAGTTAGGCCTAGACGCAGCATCATTAAATTCTGGATGAAATGATCCACACGGACTTTATAACAGGCTTTACAAGCTTGAGATTCTTTTATCTAAATAATCAGTGTGATTCGTGGAGCCCAACAGCTGCAGGGCTGCGGGGGCGTCACAGCCCCCAGCAATATCAGCCTTAGGTGCGGCTCCACAGCCCCAGTGTCCCTCACCTTCGGGGTGCATCGCTGGTAACATCCACCCAGATCACTGGGCAGCATGTGGCACCATCTCACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCCATGGCTCTGAACCTCAGGCCCACCTTTTCTCATGTCTGGCAGCTGCTCTGCTCTAGACCCTGCTCATCTCCACATCCTAAATGTTCACTTTCTATGTCTTTCCCTTTCTAGCTCTAGTGGGTATAACTCCCTCCCCTTAGAGACAGCACTGGCCTCTCCCATGCTGGTATCCACCCCAAAAGGCTGGAAACAGGCAATTACTGGCATCTACCCAGCACTAGTTTCTTGACACGCATGATGAGTGAGTGCTCTTGGTGAGCCTGGAGCATGGGTATTGTTTTTGGTATTTTTTGGATGAAGAAATGGAGGCATAAAGAAATTGGCTGACCCTTATATGGCTGGGATAGGGTTTAAGCCCCTTGTTATTTCTGACTCTGAAACTTGCATTCAATTCACTCCACCAAGTTATCTCATCTTTGAAATGGCTTTTTTTAAAGGTGCCTAGAATATGATGGCGTGCAGTCTATAAACTGTTGCCCACCTTCTGTACTTTCTCTCAGAATAATTCACATTCTTCTCCAGTGTCTGTTGATTGTTACTTTGTGGAATAAGTTCTTGGAAAATTCCACAAGATTATTGTTATCTTCTTACTACCAATTCTATTGAACTTTCTCCACCTTCTCTGGGCCTTCCCCAGCCAGTGGTGGGAAGATGCTGGCTGGAGTCTGACAGAGCCTCTTCTACACTGGCCTGGGCTTGCTGTGAGTTGGTGGAAACCTTTGCTCTTGTCCCAACACAGAGCAAGTGAAAGAGGAGGTCAAGGGGCTCAGGCAGCGGACTAGGGAAGCAGAATCGAGGAAAAGGAAAAATGGCTGACTTATTACCTCAAAACTCTAGAGAATTTAGTTGATCTTACAGCCAAGAAGGACAAAAGCCAGAGAGTAATATCCTCCGCCTCATGTCTAACCCACAGAATACATAGCAAGTAAAGAGAACATGGGCCTTTATAAAAATGTCTTAAGATACAATTTTTTAATTGGAGGAAATCTACAGTTTAATTTTCTCTGGGCAGCTTTTCTTCCTTTTATTATAGTAGGGGAAATCCCATGTTGATATACTTCTAAATGAAAGATGATGAATTGATATAATACAATAAAAAATCTGTAAAATTGATGATATACTTATCAAGAAAAATTAGCTTTCATTTTAACGGTTTACAAATTGAGTCAAGTCCTAGTAACAAAATGTTAAGTCTATTAACATAACCACAAG
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Task1_train_11195
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Consider this mutation in EGFR (epidermal growth factor receptor) on Chromosome 7. Is this a benign change or a disease-causing variant?
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Pathogenic; Neoplasm
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CAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACATCTGCTCTTTTCCATCTTTTTCTTCTCCTCCTGTTCACCCGCCCTTACTCTTGTGGCGCCCTATGGATATGCGCTCCATAGCAAATGATTCTTTATATCTTACGGTATTCTAGTGAGCTGGCACATGTGGCTTCTGGTTTCCTCTCTCTGGAACTAGACATGACCTCTGTGGGAGGGAGGATTAAATGCACCCTACAGTCTGAGGCTGCATGATGACATCACTCATCACAATGATGCTTTCTATGTCTGAATCCTATTCCTTTATAACCCCTTTCAAGCTCGTTCAGAGAGTATTTCACACAATCCATGTGCTCATCTTAAAAGCCAAGGACCCAGAGGAGTCTCAGCATTGCCAAAAAGTCCCTTCACCCAGCCTGGCCAGAGGCAGTGCCTGGTCCATGTGTATGGACTATGGCACTTCAATTGCATGGAAATACTCTTGGAATGAACAAAATACCAATCCATGAAAAAGCATTATTGAAGTCTAAGTTATTTTTTGAATCATATTTTGTTAATCAACAAATTGAAAAATACTCATTATATGGAGAGGTCCAGATAAAGCCTCAATTTTAAAAAATGAGGAAAAGTGTGCCTGGTAGGGGACTGGGGAGAGCTTGAGAAAGTTGGAAACGTTGCCTTAGAAGCCTGTTTTTTCTCCTTTTAGAAGCTACATAGTGTCTCACTTTCCAAGATCATTCTACAAGATGTCAGTGCACTGAAACATGCAGGGGCGTGTTGAGTGCCAAGGCCATGGAATCTGTCAGCAACCTCACCCTTCCTTGTTCCTCCACCTCATTCCAGGCCTAAGATCCCGTCCATCGCCACTGGGATGGTGGGGGCCCTCCTCTTGCTGCTGGTGGTGGCCCTGGGGATCGGCCTCTTCATGCGAAGGCGCCACATCGTTCGGAAGCGCACGCTGCGGAGGCTGCTGCAGGAGAGGGAGGTGAGTGCCAGTCCTGGGTGGGCTCAGGAGCCCTCGCACCCCGACAGGAACAAGGGCCAGCCCCGAGAACGGGCCATTAGCAGTTGTGTATGTTAGATACATAATTGTATTATGATGCAGAAAGAATCTCTGAATGTGCAGTTATACCCAGTTGGTGACATGTTGGTACATCCATCCGAGGAAATGGCAATGTTTCTAGGCTGCACCCTTCAATGTCCACAAAGCTGTGTGGCATCTGCTTAGGACCCGGTGCCTGTGTGTGCATAGGAGGGAGGCCAGGAAGCCTGGCTGTTGATCCCATGCTGGCACTGTGGCGAAGGCGAGAGATTCCTGCTTTGGAAAACACCATTGTCCACACAGTGGCTTTGTCCATGATGGACTTCGCCACAGCCCAGTCCTGTGCTGGAAGCCATGTTCTCTGGAAAGAGCAACCCAGCGGCTCATAAGCATAAGCGCGTGTGATGTGCCCCAACCAAACGACCGCCATGCACAACTTCCCTACCGGAGTTTTCAATCCAGTTAATAGGCGTGGAAACAGACATAGAAATTGTGTTTGTTGAAAGGTAGCTGTTCAGTTAAAGAACACCTGTATCAGAGCCTGTGTTTCTACCAACTTCTGTCAAGCTCTGTAGAGAAGGCGTACATTTGTCCTTCCAAATGAGCTGGCAAGTGCCGTGTCCTGGCACCCAAGCCCATGCCGTGGCTGCTGGTCCCCCTGCTGGGCCATGTCTGGCACTGCTTTCCAGCATGGTGAGGGCTGAGGTGACCCTTGTCTCTGTGTTCTTGTCCCCCCCAGCTTGTGGAGCCTCTTACACCCAGTGGAGAAGCTCCCAACCAAGCTCTCTTGAGGATCTTGAAGGAAACTGAATTCAAAAAGATCAAAGTGCTGGGCTCCGGTGCGTTCGGCACGGTGTATAAGGTAAGGTCCCTGGCACAGGCCTCTGGGCTGGGCCGCAGGGCCTCTCATGGTCTGGTGGGGAGCCCAGAGTCCTTGCAAGCTGTATATTTCCATCATCTACTTTACTCTTTGTTTCACTGAGTGTTTGGGAAACTCCAGTGTTTTTCCCAAGTTATTGAGAGGAAATCTTTTATAACCACAGTAATCAGTGGTCCTGTGAGACCAATTCACAGACCAAAGGCATTTTTATGAAAGGGGCCATTGACCTTGCCATGGGGTGCAGCACAGGGCGGGAGGAGGGCCGCCTCTCACCGCACGGCATCAGAATGCAGCCCAGCTGAAATGGGCTCATCTTCGTTTGCTTCTTCTAGATCCTCTTTGCATGAAATCTGATTTCAGTTAGGCCTAGACGCAGCATCATTAAATTCTGGATGAAATGATCCACACGGACTTTATAACAGGCTTTACAAGCTTGAGATTCTTTTATCTAAATAATCAGTGTGATTCGTGGAGCCCAACAGCTGCAGGGCTGCGGGGGCGTCACAGCCCCCAGCAATATCAGCCTTAGGTGCGGCTCCACAGCCCCAGTGTCCCTCACCTTCGGGGTGCATCGCTGGTAACATCCACCCAGATCACTGGGCAGCATGTGGCACCATCTCACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCCATGGCTCTGAACCTCAGGCCCACCTTTTCTCATGTCTGGCAGCTGCTCTGCTCTAGACCCTGCTCATCTCCACATCCTAAATGTTCACTTTCTATGTCTTTCCCTTTCTAGCTCTAGTGGGTATAACTCCCTCCCCTTAGAGACAGCACTGGCCTCTCCCATGCTGGTATCCACCCCAAAAGGCTGGAAACAGGCAATTACTGGCATCTACCCAGCACTAGTTTCTTGACACGCATGATGAGTGAGTGCTCTTGGTGAGCCTGGAGCATGGGTATTGTTTTTGGTATTTTTTGGATGAAGAAATGGAGGCATAAAGAAATTGGCTGACCCTTATATGGCTGGGATAGGGTTTAAGCCCCTTGTTATTTCTGACTCTGAAACTTGCATTCAATTCACTCCACCAAGTTATCTCATCTTTGAAATGGCTTTTTTTAAAGGTGCCTAGAATATGATGGCGTGCAGTCTATAAACTGTTGCCCACCTTCTGTACTTTCTCTCAGAATAATTCACATTCTTCTCCAGTGTCTGTTGATTGTTACTTTGTGGAATAAGTTCTTGGAAAATTCCACAAGATTATTGTTATCTTCTTACTACCAATTCTATTGAACTTTCTCCACCTTCTCTGGGCCTTCCCCAGCCAGTGGTGGGAAGATGCTGGCTGGAGTCTGACAGAGCCTCTTCTACACTGGCCTGGGCTTGCTGTGAGTTGGTGGAAACCTTTGCTCTTGTCCCAACACAGAGCAAGTGAAAGAGGAGGTCAAGGGGCTCAGGCAGCGGACTAGGGAAGCAGAATCGAGGAAAAGGAAAAATGGCTGACTTATTACCTCAAAACTCTAGAGAATTTAGTTGATCTTACAGCCAAGAAGGACAAAAGCCAGAGAGTAATATCCTCCGCCTCATGTCTAACCCACAGAATACATAGCAAGTAAAGAGAACATGGGCCTTTATAAAAATGTCTTAAGATACAATTTTTTAATTGGAGGAAATCTACAGTTTAATTTTCTCTGGGCAGCTTTTCTTCCTTTTATTATAGTAGGGGAAATCCCATGTTGATATACTTCTAAATGAAAGATGATGAATTGATATAATACAATAAAAAATCTGTAAAATTGATGATATACTTATCAAGAAAAATTAGCTTTCATTTTAACGGTTTACAAATTGAGTCAAGTCCTAGTAACAAAATGTTAAGTCTATTAACATAACCACAAG
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CAGCCATAGCTCTCTCTCCTGCCACCAGTGTCACATGATCGAGGAAGAAGGCAACTTCAAAAAGACTGGGTCCCCTTCCACTCCCATCTCTTCAGTGAGCTGCTAGGACACCCAGCAGAACTTCCCCACTCCACACTGCAATCTCAGGGATCTTAGTCACGGGGCTTTCCACCATGTCTCCACCTGGAAACCAGTCATGGCCATTCCTTCTTACATCTGCTCTTTTCCATCTTTTTCTTCTCCTCCTGTTCACCCGCCCTTACTCTTGTGGCGCCCTATGGATATGCGCTCCATAGCAAATGATTCTTTATATCTTACGGTATTCTAGTGAGCTGGCACATGTGGCTTCTGGTTTCCTCTCTCTGGAACTAGACATGACCTCTGTGGGAGGGAGGATTAAATGCACCCTACAGTCTGAGGCTGCATGATGACATCACTCATCACAATGATGCTTTCTATGTCTGAATCCTATTCCTTTATAACCCCTTTCAAGCTCGTTCAGAGAGTATTTCACACAATCCATGTGCTCATCTTAAAAGCCAAGGACCCAGAGGAGTCTCAGCATTGCCAAAAAGTCCCTTCACCCAGCCTGGCCAGAGGCAGTGCCTGGTCCATGTGTATGGACTATGGCACTTCAATTGCATGGAAATACTCTTGGAATGAACAAAATACCAATCCATGAAAAAGCATTATTGAAGTCTAAGTTATTTTTTGAATCATATTTTGTTAATCAACAAATTGAAAAATACTCATTATATGGAGAGGTCCAGATAAAGCCTCAATTTTAAAAAATGAGGAAAAGTGTGCCTGGTAGGGGACTGGGGAGAGCTTGAGAAAGTTGGAAACGTTGCCTTAGAAGCCTGTTTTTTCTCCTTTTAGAAGCTACATAGTGTCTCACTTTCCAAGATCATTCTACAAGATGTCAGTGCACTGAAACATGCAGGGGCGTGTTGAGTGCCAAGGCCATGGAATCTGTCAGCAACCTCACCCTTCCTTGTTCCTCCACCTCATTCCAGGCCTAAGATCCCGTCCATCGCCACTGGGATGGTGGGGGCCCTCCTCTTGCTGCTGGTGGTGGCCCTGGGGATCGGCCTCTTCATGCGAAGGCGCCACATCGTTCGGAAGCGCACGCTGCGGAGGCTGCTGCAGGAGAGGGAGGTGAGTGCCAGTCCTGGGTGGGCTCAGGAGCCCTCGCACCCCGACAGGAACAAGGGCCAGCCCCGAGAACGGGCCATTAGCAGTTGTGTATGTTAGATACATAATTGTATTATGATGCAGAAAGAATCTCTGAATGTGCAGTTATACCCAGTTGGTGACATGTTGGTACATCCATCCGAGGAAATGGCAATGTTTCTAGGCTGCACCCTTCAATGTCCACAAAGCTGTGTGGCATCTGCTTAGGACCCGGTGCCTGTGTGTGCATAGGAGGGAGGCCAGGAAGCCTGGCTGTTGATCCCATGCTGGCACTGTGGCGAAGGCGAGAGATTCCTGCTTTGGAAAACACCATTGTCCACACAGTGGCTTTGTCCATGATGGACTTCGCCACAGCCCAGTCCTGTGCTGGAAGCCATGTTCTCTGGAAAGAGCAACCCAGCGGCTCATAAGCATAAGCGCGTGTGATGTGCCCCAACCAAACGACCGCCATGCACAACTTCCCTACCGGAGTTTTCAATCCAGTTAATAGGCGTGGAAACAGACATAGAAATTGTGTTTGTTGAAAGGTAGCTGTTCAGTTAAAGAACACCTGTATCAGAGCCTGTGTTTCTACCAACTTCTGTCAAGCTCTGTAGAGAAGGCGTACATTTGTCCTTCCAAATGAGCTGGCAAGTGCCGTGTCCTGGCACCCAAGCCCATGCCGTGGCTGCTGGTCCCCCTGCTGGGCCATGTCTGGCACTGCTTTCCAGCATGGTGAGGGCTGAGGTGACCCTTGTCTCTGTGTTCTTGTCCCCCCCAGCTTGTGGAGCCTCTTACACCCAGTGGAGAAGCTCCCAACCAAGCTCTCTTGAGGATCTTGAAGGAAACTGAATTCAAAAAGATCAAAGTGCTGGCCTCCGGTGCGTTCGGCACGGTGTATAAGGTAAGGTCCCTGGCACAGGCCTCTGGGCTGGGCCGCAGGGCCTCTCATGGTCTGGTGGGGAGCCCAGAGTCCTTGCAAGCTGTATATTTCCATCATCTACTTTACTCTTTGTTTCACTGAGTGTTTGGGAAACTCCAGTGTTTTTCCCAAGTTATTGAGAGGAAATCTTTTATAACCACAGTAATCAGTGGTCCTGTGAGACCAATTCACAGACCAAAGGCATTTTTATGAAAGGGGCCATTGACCTTGCCATGGGGTGCAGCACAGGGCGGGAGGAGGGCCGCCTCTCACCGCACGGCATCAGAATGCAGCCCAGCTGAAATGGGCTCATCTTCGTTTGCTTCTTCTAGATCCTCTTTGCATGAAATCTGATTTCAGTTAGGCCTAGACGCAGCATCATTAAATTCTGGATGAAATGATCCACACGGACTTTATAACAGGCTTTACAAGCTTGAGATTCTTTTATCTAAATAATCAGTGTGATTCGTGGAGCCCAACAGCTGCAGGGCTGCGGGGGCGTCACAGCCCCCAGCAATATCAGCCTTAGGTGCGGCTCCACAGCCCCAGTGTCCCTCACCTTCGGGGTGCATCGCTGGTAACATCCACCCAGATCACTGGGCAGCATGTGGCACCATCTCACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCCATGGCTCTGAACCTCAGGCCCACCTTTTCTCATGTCTGGCAGCTGCTCTGCTCTAGACCCTGCTCATCTCCACATCCTAAATGTTCACTTTCTATGTCTTTCCCTTTCTAGCTCTAGTGGGTATAACTCCCTCCCCTTAGAGACAGCACTGGCCTCTCCCATGCTGGTATCCACCCCAAAAGGCTGGAAACAGGCAATTACTGGCATCTACCCAGCACTAGTTTCTTGACACGCATGATGAGTGAGTGCTCTTGGTGAGCCTGGAGCATGGGTATTGTTTTTGGTATTTTTTGGATGAAGAAATGGAGGCATAAAGAAATTGGCTGACCCTTATATGGCTGGGATAGGGTTTAAGCCCCTTGTTATTTCTGACTCTGAAACTTGCATTCAATTCACTCCACCAAGTTATCTCATCTTTGAAATGGCTTTTTTTAAAGGTGCCTAGAATATGATGGCGTGCAGTCTATAAACTGTTGCCCACCTTCTGTACTTTCTCTCAGAATAATTCACATTCTTCTCCAGTGTCTGTTGATTGTTACTTTGTGGAATAAGTTCTTGGAAAATTCCACAAGATTATTGTTATCTTCTTACTACCAATTCTATTGAACTTTCTCCACCTTCTCTGGGCCTTCCCCAGCCAGTGGTGGGAAGATGCTGGCTGGAGTCTGACAGAGCCTCTTCTACACTGGCCTGGGCTTGCTGTGAGTTGGTGGAAACCTTTGCTCTTGTCCCAACACAGAGCAAGTGAAAGAGGAGGTCAAGGGGCTCAGGCAGCGGACTAGGGAAGCAGAATCGAGGAAAAGGAAAAATGGCTGACTTATTACCTCAAAACTCTAGAGAATTTAGTTGATCTTACAGCCAAGAAGGACAAAAGCCAGAGAGTAATATCCTCCGCCTCATGTCTAACCCACAGAATACATAGCAAGTAAAGAGAACATGGGCCTTTATAAAAATGTCTTAAGATACAATTTTTTAATTGGAGGAAATCTACAGTTTAATTTTCTCTGGGCAGCTTTTCTTCCTTTTATTATAGTAGGGGAAATCCCATGTTGATATACTTCTAAATGAAAGATGATGAATTGATATAATACAATAAAAAATCTGTAAAATTGATGATATACTTATCAAGAAAAATTAGCTTTCATTTTAACGGTTTACAAATTGAGTCAAGTCCTAGTAACAAAATGTTAAGTCTATTAACATAACCACAAG
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Task1_train_11196
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This mutation occurs in EGFR, EGFR-AS1 (epidermal growth factor receptor| EGFR antisense RNA 1) on Chromosome 7. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Non-small cell lung carcinoma
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CCAGAGGGTTTGTTCATATGGAAGGCTAGGCCTGTCTCCTGCATTTCACCCTCTTGGCCTGGGGGCGGGACCCAAGAATGTGTGGCTCTAAAAGGTTCCCAGGCAATGCTGAGGCTGCTTTCTGAAGGAAAAACTGCAAGATACCAGGAGAGTTTCATTTAGATTGAAGAGTCGAGGAAGGCTCCTCTGAGAAAGAGTCTGCTAAGGAAGGAGGAGGTGGGTTCTGGGGACAGAGGTTCTCCCGTGGGTAAGGGTGGAGGGAAGCTCTCCTGGGGAGAAGGTGGGCAGGAGGACCAGAGGCTGGAGGGAGGAGGGCAGTCAGCCTCGGGGCTTCCCAGGAACAGGGACGGCCAGGGCAGGGTTTAGGGCAAGGAAAGCGTGTGAGCATATTTGTATTTTAGTAAATATTTACAGTTTGCCCTCCATGTCTGCAGTTTCATATCCATGGATTCAATCAACCACAATGAAAAACGTTGGGGAAAAAAATTGCATCGGTACTGAACATATACGGACTTTTTTTCTTGTCATTATTCCCTAAACAATACAGCATAACAATTATTCACATAGCATTTGCACTGTATTAGGTACTATAGGTAATCAGGAGATGCTGTAGATGGGAGGATGTCTGTAGGTTACACACAAATGCTGTGCCACTTTATATCAGGGGCTTGAGCATCCTCACATTTTGATATTTAAGGGAGGTCCTGGAACCAATTCCCCAGATACTGAGGGTCCACTGTCTGTGTCCCCTCGCCCCACCTTGCCTTTGTCTCCTGTCTCCTATCTCCACCCTGCCTCCCGCCAGCCTGTTGCTCCTGACCTGCCCGGGCACCCTGGAGCAGCACCCTATCTCAGAGCCTGGCTCAGTGTGTTCACTTCTGCAGAGAAACTAACTTGCCCAAGTCCACACTCAAAACATAGGCATTGCTGAGATGTGAAAAGCAGCTGTGGATGCTTTCTGCTACAGTCTGTGTGTTCTTTTCCATATCTGAATAAAAGGTCACCACCATTTGTATTTTAAAGAGAAAGAGAATTTATGGGTGGAAATTGGGGATTCCCTCATTCTCAGTCAGACAGAAAAGAGGGCCCCATTGTGTGCCTGATTGCAAATAAATTTAGCTTCCTCAGCCCAAGAATAGCAGAAGGGTTAAAATAAAGTCTGTATTTATGGCTCTGTCAAAGGAAGGCCCCTGCCTTGGCAGCCAGCCGGAATTAGCAGGGCAGCAGATGCCTGACTCAGTGCAGCATGGATTTCCCATAGGGAGCCTGGGGGCACAGCACAGAGAGACCACTTCTCTTTAGAAATGGGTCCCGGGCAGCCAGGCAGCCTTTAGTCACTGTAGATTGAATGCTCTGTCCATTTCAAAACCTGGGACTGGTCTATTGAAAGAGCTTATCCAGCTACTCTTTGCAGAGGTGCTGTGGGCAGGGTCCCCAGCCCAAATGCCCACCCATTTCCCAGAGCACAGTCAGGGCCAAGCCTGGCCTGTGGGGAAGGGAGGCCTTTCTCCCTGCTGGCTCGGTGCTCCCCGGATGCCTTCTCCATCGCTTGTCCTCTGCAGCACCCACAGCCAGCGTTCCTGATGTGCAGGGTCAGTCATTACCCAGGGTGTTCCGGACCCCACACAGATTCCTACAGGCCCTCATGATATTTTAAAACACAGCATCCTCAACCTTGAGGCGGAGGTCTTCATAACAAAGATACTATCAGTTCCCAAACTCAGAGATCAGGTGACTCCGACTCCTCCTTTATCCAATGTGCTCCTCATGGCCACTGTTGCCTGGGCCTCTCTGTCATGGGGAATCCCCAGATGCACCCAGGAGGGGCCCTCTCCCACTGCATCTGTCACTTCACAGCCCTGCGTAAACGTCCCTGTGCTAGGTCTTTTGCAGGCACAGCTTTTCCTCCATGAGTACGTATTTTGAAACTCAAGATCGCATTCATGCGTCTTCACCTGGAAGGGGTCCATGTGCCCCTCCTTCTGGCCACCATGCGAAGCCACACTGACGTGCCTCTCCCTCCCTCCAGGAAGCCTACGTGATGGCCAGCGTGGACAACCCCCACGTGTGCCGCCTGCTGGGCATCTGCCTCACCTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCTGCCTCCTGGACTATGTCCGGGAACACAAAGACAATATTGGCTCCCAGTACCTGCTCAACTGGTGTGTGCAGATCGCAAAGGTAATCAGGGAAGGGAGATACGGGGAGGGGAGATAAGGAGCCAGGATCCTCACATGCGGTCTGCGCTCCTGGGATAGCAAGAGTTTGCCATGGGGATATGTGTGTGCGTGCATGCAGCACACACACATTCCTTTATTTTGGATTCAATCAAGTTGATCTTCTTGTGCACAAATCAGTGCCTGTCCCATCTGCATGTGGAAACTCTCATCAATCAGCTACCTTTGAAGAATTTTCTCTTTATTGAGTGCTCAGTGTGGTCTGATGTCTCTGTTCTTATTTCTCTGGAATTCTTTGTGAATACTGTGGTGATTTGTAGTGGAGAAGGAATATTGCTTCCCCCATTCAGGACTTGATAACAAGGTAAGCAAGCCAGGCCAAGGCCAGGAGGACCCAGGTGATAGTGGTGGAGTGGAGCAGGTGCCTTGCAGGAGGCCCAGTGAGGAGGTGCAAGGAGCTGACAGAGGGCGCAGCTGCTGCTGCTATGTGGCTGGGGCCTTGGCTAAGTGTCCCCCTTTCCACAGGCTCGCTCCAGAGCCAGGGCGGGGCTGAGAGAGCAGAGTGGTCAGGTAGCCCTGCCTGGGTGCTGGAGACAGGCACAGAACAACAAGCCAGGTATTTCACAGCTGGTGCGGACCCAGAAAGACTTCTGCTTTTGCCCCAAACCCCTCCCATCTCCATCCCAGTCTTGCATCAGTTATTTGCACTCAACTTGCTAAGTCCTATTTTTTTCTAACAATGGGTATACATTTCATCCCATTGACTTTAAAGGATTTGCAGGCAGGCCCTGTCTCTGAGAATACGCCGTTGCCCGTCATCTCTCTCCGACAGCAGGGCAGGGGGTCCAGAGATGTGCCAGGGACCAGAGGGAGGGAGCAGACACCCACCCGGCCTGGGCAGGTCCTCCTCATTGCTTGCATCCGCCTGGTTAGCAGTGGCAGTCAGTCCTGCCGAGTCATTCGTGAGGCGCTCACCCAACTCCAGGCAGATGTAAAAGGTGACCTACAAGAAGACAAACAAAAACATCTGGAGCGCTCTTATGCCAGCATCTGCCCTTGACACCACCAGGCAGGCTGTTGCTGGGAGCCGTGGTGCTTGGGTAAGCTCCTTCCCATGGCAGAGCTCCTGGGACGCATTGTAGAAGCAGGGACCACCTCCCAGGATAACCAGATAGCAGCACACCCTGCACAGCCCCTTTTACTCCAGCATCATCGGGCATTGATATCTCAGCTGCAGCCACAGGCGGCCCCCAGCACCCCAGGAAGTGGGGAGCGCTCATGCTTCTCTGAGCACAAAAATCACTGAATATTTTTGCCATTCTCATGGTCATAACCCGGGCCACAGAGTAGAACACTCCTATCACTGTTGTTAGACAGTGGTCCTGGGAGAGGGTCTTGTGTGCCTCGGATGCCAGGGCCTCTTTTTATTGGGAGGTGCTTGTTATTTCTGTGTGTGGCTGCATTTGTTTCCCAAGACTGCCACAACAAATCATCACCAACTTGGTAGCTCAACATAGCACAGCTTTATTCCCTCCTGGCTCTGGAGGCCAGGTGTCTAAAAGGCCATGCTCCCACAATGGTTCTGAGGAGGATCCTTCCTGCCTCTCTGGCTTCTGGTGGCTCCAGCATCCCTGGGCTGTGGCTGCACCTCCCCATGTCAACCTCCGTCTTCACAAGGCCTTTTCCTGTGTCTCTGCAACCACAGGCCCCTCTCCTTTCTCTTAATAAAGATACCAGTCATTGAGTTTGAAAATTGCTAAGAGAGTCTGTTGTAAATCTTCTTAGCACAAAAAAAAATGACAGATATGTGAAGTGGTAGATATATTAATTAGTTTGATTTGATCACTCCGCTATGTGTATAAATGTCAAAACAAACATTGCACTC
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CCAGAGGGTTTGTTCATATGGAAGGCTAGGCCTGTCTCCTGCATTTCACCCTCTTGGCCTGGGGGCGGGACCCAAGAATGTGTGGCTCTAAAAGGTTCCCAGGCAATGCTGAGGCTGCTTTCTGAAGGAAAAACTGCAAGATACCAGGAGAGTTTCATTTAGATTGAAGAGTCGAGGAAGGCTCCTCTGAGAAAGAGTCTGCTAAGGAAGGAGGAGGTGGGTTCTGGGGACAGAGGTTCTCCCGTGGGTAAGGGTGGAGGGAAGCTCTCCTGGGGAGAAGGTGGGCAGGAGGACCAGAGGCTGGAGGGAGGAGGGCAGTCAGCCTCGGGGCTTCCCAGGAACAGGGACGGCCAGGGCAGGGTTTAGGGCAAGGAAAGCGTGTGAGCATATTTGTATTTTAGTAAATATTTACAGTTTGCCCTCCATGTCTGCAGTTTCATATCCATGGATTCAATCAACCACAATGAAAAACGTTGGGGAAAAAAATTGCATCGGTACTGAACATATACGGACTTTTTTTCTTGTCATTATTCCCTAAACAATACAGCATAACAATTATTCACATAGCATTTGCACTGTATTAGGTACTATAGGTAATCAGGAGATGCTGTAGATGGGAGGATGTCTGTAGGTTACACACAAATGCTGTGCCACTTTATATCAGGGGCTTGAGCATCCTCACATTTTGATATTTAAGGGAGGTCCTGGAACCAATTCCCCAGATACTGAGGGTCCACTGTCTGTGTCCCCTCGCCCCACCTTGCCTTTGTCTCCTGTCTCCTATCTCCACCCTGCCTCCCGCCAGCCTGTTGCTCCTGACCTGCCCGGGCACCCTGGAGCAGCACCCTATCTCAGAGCCTGGCTCAGTGTGTTCACTTCTGCAGAGAAACTAACTTGCCCAAGTCCACACTCAAAACATAGGCATTGCTGAGATGTGAAAAGCAGCTGTGGATGCTTTCTGCTACAGTCTGTGTGTTCTTTTCCATATCTGAATAAAAGGTCACCACCATTTGTATTTTAAAGAGAAAGAGAATTTATGGGTGGAAATTGGGGATTCCCTCATTCTCAGTCAGACAGAAAAGAGGGCCCCATTGTGTGCCTGATTGCAAATAAATTTAGCTTCCTCAGCCCAAGAATAGCAGAAGGGTTAAAATAAAGTCTGTATTTATGGCTCTGTCAAAGGAAGGCCCCTGCCTTGGCAGCCAGCCGGAATTAGCAGGGCAGCAGATGCCTGACTCAGTGCAGCATGGATTTCCCATAGGGAGCCTGGGGGCACAGCACAGAGAGACCACTTCTCTTTAGAAATGGGTCCCGGGCAGCCAGGCAGCCTTTAGTCACTGTAGATTGAATGCTCTGTCCATTTCAAAACCTGGGACTGGTCTATTGAAAGAGCTTATCCAGCTACTCTTTGCAGAGGTGCTGTGGGCAGGGTCCCCAGCCCAAATGCCCACCCATTTCCCAGAGCACAGTCAGGGCCAAGCCTGGCCTGTGGGGAAGGGAGGCCTTTCTCCCTGCTGGCTCGGTGCTCCCCGGATGCCTTCTCCATCGCTTGTCCTCTGCAGCACCCACAGCCAGCGTTCCTGATGTGCAGGGTCAGTCATTACCCAGGGTGTTCCGGACCCCACACAGATTCCTACAGGCCCTCATGATATTTTAAAACACAGCATCCTCAACCTTGAGGCGGAGGTCTTCATAACAAAGATACTATCAGTTCCCAAACTCAGAGATCAGGTGACTCCGACTCCTCCTTTATCCAATGTGCTCCTCATGGCCACTGTTGCCTGGGCCTCTCTGTCATGGGGAATCCCCAGATGCACCCAGGAGGGGCCCTCTCCCACTGCATCTGTCACTTCACAGCCCTGCGTAAACGTCCCTGTGCTAGGTCTTTTGCAGGCACAGCTTTTCCTCCATGAGTACGTATTTTGAAACTCAAGATCGCATTCATGCGTCTTCACCTGGAAGGGGTCCATGTGCCCCTCCTTCTGGCCACCATGCGAAGCCACACTGACGTGCCTCTCCCTCCCTCCAGGAAGCCTACGTGATGGCCATCGTGGACAACCCCCACGTGTGCCGCCTGCTGGGCATCTGCCTCACCTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCTGCCTCCTGGACTATGTCCGGGAACACAAAGACAATATTGGCTCCCAGTACCTGCTCAACTGGTGTGTGCAGATCGCAAAGGTAATCAGGGAAGGGAGATACGGGGAGGGGAGATAAGGAGCCAGGATCCTCACATGCGGTCTGCGCTCCTGGGATAGCAAGAGTTTGCCATGGGGATATGTGTGTGCGTGCATGCAGCACACACACATTCCTTTATTTTGGATTCAATCAAGTTGATCTTCTTGTGCACAAATCAGTGCCTGTCCCATCTGCATGTGGAAACTCTCATCAATCAGCTACCTTTGAAGAATTTTCTCTTTATTGAGTGCTCAGTGTGGTCTGATGTCTCTGTTCTTATTTCTCTGGAATTCTTTGTGAATACTGTGGTGATTTGTAGTGGAGAAGGAATATTGCTTCCCCCATTCAGGACTTGATAACAAGGTAAGCAAGCCAGGCCAAGGCCAGGAGGACCCAGGTGATAGTGGTGGAGTGGAGCAGGTGCCTTGCAGGAGGCCCAGTGAGGAGGTGCAAGGAGCTGACAGAGGGCGCAGCTGCTGCTGCTATGTGGCTGGGGCCTTGGCTAAGTGTCCCCCTTTCCACAGGCTCGCTCCAGAGCCAGGGCGGGGCTGAGAGAGCAGAGTGGTCAGGTAGCCCTGCCTGGGTGCTGGAGACAGGCACAGAACAACAAGCCAGGTATTTCACAGCTGGTGCGGACCCAGAAAGACTTCTGCTTTTGCCCCAAACCCCTCCCATCTCCATCCCAGTCTTGCATCAGTTATTTGCACTCAACTTGCTAAGTCCTATTTTTTTCTAACAATGGGTATACATTTCATCCCATTGACTTTAAAGGATTTGCAGGCAGGCCCTGTCTCTGAGAATACGCCGTTGCCCGTCATCTCTCTCCGACAGCAGGGCAGGGGGTCCAGAGATGTGCCAGGGACCAGAGGGAGGGAGCAGACACCCACCCGGCCTGGGCAGGTCCTCCTCATTGCTTGCATCCGCCTGGTTAGCAGTGGCAGTCAGTCCTGCCGAGTCATTCGTGAGGCGCTCACCCAACTCCAGGCAGATGTAAAAGGTGACCTACAAGAAGACAAACAAAAACATCTGGAGCGCTCTTATGCCAGCATCTGCCCTTGACACCACCAGGCAGGCTGTTGCTGGGAGCCGTGGTGCTTGGGTAAGCTCCTTCCCATGGCAGAGCTCCTGGGACGCATTGTAGAAGCAGGGACCACCTCCCAGGATAACCAGATAGCAGCACACCCTGCACAGCCCCTTTTACTCCAGCATCATCGGGCATTGATATCTCAGCTGCAGCCACAGGCGGCCCCCAGCACCCCAGGAAGTGGGGAGCGCTCATGCTTCTCTGAGCACAAAAATCACTGAATATTTTTGCCATTCTCATGGTCATAACCCGGGCCACAGAGTAGAACACTCCTATCACTGTTGTTAGACAGTGGTCCTGGGAGAGGGTCTTGTGTGCCTCGGATGCCAGGGCCTCTTTTTATTGGGAGGTGCTTGTTATTTCTGTGTGTGGCTGCATTTGTTTCCCAAGACTGCCACAACAAATCATCACCAACTTGGTAGCTCAACATAGCACAGCTTTATTCCCTCCTGGCTCTGGAGGCCAGGTGTCTAAAAGGCCATGCTCCCACAATGGTTCTGAGGAGGATCCTTCCTGCCTCTCTGGCTTCTGGTGGCTCCAGCATCCCTGGGCTGTGGCTGCACCTCCCCATGTCAACCTCCGTCTTCACAAGGCCTTTTCCTGTGTCTCTGCAACCACAGGCCCCTCTCCTTTCTCTTAATAAAGATACCAGTCATTGAGTTTGAAAATTGCTAAGAGAGTCTGTTGTAAATCTTCTTAGCACAAAAAAAAATGACAGATATGTGAAGTGGTAGATATATTAATTAGTTTGATTTGATCACTCCGCTATGTGTATAAATGTCAAAACAAACATTGCACTC
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Task1_train_11197
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A variant was discovered in gene EGFR, EGFR-AS1 (epidermal growth factor receptor| EGFR antisense RNA 1), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Neoplasm
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CCAGAGGGTTTGTTCATATGGAAGGCTAGGCCTGTCTCCTGCATTTCACCCTCTTGGCCTGGGGGCGGGACCCAAGAATGTGTGGCTCTAAAAGGTTCCCAGGCAATGCTGAGGCTGCTTTCTGAAGGAAAAACTGCAAGATACCAGGAGAGTTTCATTTAGATTGAAGAGTCGAGGAAGGCTCCTCTGAGAAAGAGTCTGCTAAGGAAGGAGGAGGTGGGTTCTGGGGACAGAGGTTCTCCCGTGGGTAAGGGTGGAGGGAAGCTCTCCTGGGGAGAAGGTGGGCAGGAGGACCAGAGGCTGGAGGGAGGAGGGCAGTCAGCCTCGGGGCTTCCCAGGAACAGGGACGGCCAGGGCAGGGTTTAGGGCAAGGAAAGCGTGTGAGCATATTTGTATTTTAGTAAATATTTACAGTTTGCCCTCCATGTCTGCAGTTTCATATCCATGGATTCAATCAACCACAATGAAAAACGTTGGGGAAAAAAATTGCATCGGTACTGAACATATACGGACTTTTTTTCTTGTCATTATTCCCTAAACAATACAGCATAACAATTATTCACATAGCATTTGCACTGTATTAGGTACTATAGGTAATCAGGAGATGCTGTAGATGGGAGGATGTCTGTAGGTTACACACAAATGCTGTGCCACTTTATATCAGGGGCTTGAGCATCCTCACATTTTGATATTTAAGGGAGGTCCTGGAACCAATTCCCCAGATACTGAGGGTCCACTGTCTGTGTCCCCTCGCCCCACCTTGCCTTTGTCTCCTGTCTCCTATCTCCACCCTGCCTCCCGCCAGCCTGTTGCTCCTGACCTGCCCGGGCACCCTGGAGCAGCACCCTATCTCAGAGCCTGGCTCAGTGTGTTCACTTCTGCAGAGAAACTAACTTGCCCAAGTCCACACTCAAAACATAGGCATTGCTGAGATGTGAAAAGCAGCTGTGGATGCTTTCTGCTACAGTCTGTGTGTTCTTTTCCATATCTGAATAAAAGGTCACCACCATTTGTATTTTAAAGAGAAAGAGAATTTATGGGTGGAAATTGGGGATTCCCTCATTCTCAGTCAGACAGAAAAGAGGGCCCCATTGTGTGCCTGATTGCAAATAAATTTAGCTTCCTCAGCCCAAGAATAGCAGAAGGGTTAAAATAAAGTCTGTATTTATGGCTCTGTCAAAGGAAGGCCCCTGCCTTGGCAGCCAGCCGGAATTAGCAGGGCAGCAGATGCCTGACTCAGTGCAGCATGGATTTCCCATAGGGAGCCTGGGGGCACAGCACAGAGAGACCACTTCTCTTTAGAAATGGGTCCCGGGCAGCCAGGCAGCCTTTAGTCACTGTAGATTGAATGCTCTGTCCATTTCAAAACCTGGGACTGGTCTATTGAAAGAGCTTATCCAGCTACTCTTTGCAGAGGTGCTGTGGGCAGGGTCCCCAGCCCAAATGCCCACCCATTTCCCAGAGCACAGTCAGGGCCAAGCCTGGCCTGTGGGGAAGGGAGGCCTTTCTCCCTGCTGGCTCGGTGCTCCCCGGATGCCTTCTCCATCGCTTGTCCTCTGCAGCACCCACAGCCAGCGTTCCTGATGTGCAGGGTCAGTCATTACCCAGGGTGTTCCGGACCCCACACAGATTCCTACAGGCCCTCATGATATTTTAAAACACAGCATCCTCAACCTTGAGGCGGAGGTCTTCATAACAAAGATACTATCAGTTCCCAAACTCAGAGATCAGGTGACTCCGACTCCTCCTTTATCCAATGTGCTCCTCATGGCCACTGTTGCCTGGGCCTCTCTGTCATGGGGAATCCCCAGATGCACCCAGGAGGGGCCCTCTCCCACTGCATCTGTCACTTCACAGCCCTGCGTAAACGTCCCTGTGCTAGGTCTTTTGCAGGCACAGCTTTTCCTCCATGAGTACGTATTTTGAAACTCAAGATCGCATTCATGCGTCTTCACCTGGAAGGGGTCCATGTGCCCCTCCTTCTGGCCACCATGCGAAGCCACACTGACGTGCCTCTCCCTCCCTCCAGGAAGCCTACGTGATGGCCAGCGTGGACAACCCCCACGTGTGCCGCCTGCTGGGCATCTGCCTCACCTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCTGCCTCCTGGACTATGTCCGGGAACACAAAGACAATATTGGCTCCCAGTACCTGCTCAACTGGTGTGTGCAGATCGCAAAGGTAATCAGGGAAGGGAGATACGGGGAGGGGAGATAAGGAGCCAGGATCCTCACATGCGGTCTGCGCTCCTGGGATAGCAAGAGTTTGCCATGGGGATATGTGTGTGCGTGCATGCAGCACACACACATTCCTTTATTTTGGATTCAATCAAGTTGATCTTCTTGTGCACAAATCAGTGCCTGTCCCATCTGCATGTGGAAACTCTCATCAATCAGCTACCTTTGAAGAATTTTCTCTTTATTGAGTGCTCAGTGTGGTCTGATGTCTCTGTTCTTATTTCTCTGGAATTCTTTGTGAATACTGTGGTGATTTGTAGTGGAGAAGGAATATTGCTTCCCCCATTCAGGACTTGATAACAAGGTAAGCAAGCCAGGCCAAGGCCAGGAGGACCCAGGTGATAGTGGTGGAGTGGAGCAGGTGCCTTGCAGGAGGCCCAGTGAGGAGGTGCAAGGAGCTGACAGAGGGCGCAGCTGCTGCTGCTATGTGGCTGGGGCCTTGGCTAAGTGTCCCCCTTTCCACAGGCTCGCTCCAGAGCCAGGGCGGGGCTGAGAGAGCAGAGTGGTCAGGTAGCCCTGCCTGGGTGCTGGAGACAGGCACAGAACAACAAGCCAGGTATTTCACAGCTGGTGCGGACCCAGAAAGACTTCTGCTTTTGCCCCAAACCCCTCCCATCTCCATCCCAGTCTTGCATCAGTTATTTGCACTCAACTTGCTAAGTCCTATTTTTTTCTAACAATGGGTATACATTTCATCCCATTGACTTTAAAGGATTTGCAGGCAGGCCCTGTCTCTGAGAATACGCCGTTGCCCGTCATCTCTCTCCGACAGCAGGGCAGGGGGTCCAGAGATGTGCCAGGGACCAGAGGGAGGGAGCAGACACCCACCCGGCCTGGGCAGGTCCTCCTCATTGCTTGCATCCGCCTGGTTAGCAGTGGCAGTCAGTCCTGCCGAGTCATTCGTGAGGCGCTCACCCAACTCCAGGCAGATGTAAAAGGTGACCTACAAGAAGACAAACAAAAACATCTGGAGCGCTCTTATGCCAGCATCTGCCCTTGACACCACCAGGCAGGCTGTTGCTGGGAGCCGTGGTGCTTGGGTAAGCTCCTTCCCATGGCAGAGCTCCTGGGACGCATTGTAGAAGCAGGGACCACCTCCCAGGATAACCAGATAGCAGCACACCCTGCACAGCCCCTTTTACTCCAGCATCATCGGGCATTGATATCTCAGCTGCAGCCACAGGCGGCCCCCAGCACCCCAGGAAGTGGGGAGCGCTCATGCTTCTCTGAGCACAAAAATCACTGAATATTTTTGCCATTCTCATGGTCATAACCCGGGCCACAGAGTAGAACACTCCTATCACTGTTGTTAGACAGTGGTCCTGGGAGAGGGTCTTGTGTGCCTCGGATGCCAGGGCCTCTTTTTATTGGGAGGTGCTTGTTATTTCTGTGTGTGGCTGCATTTGTTTCCCAAGACTGCCACAACAAATCATCACCAACTTGGTAGCTCAACATAGCACAGCTTTATTCCCTCCTGGCTCTGGAGGCCAGGTGTCTAAAAGGCCATGCTCCCACAATGGTTCTGAGGAGGATCCTTCCTGCCTCTCTGGCTTCTGGTGGCTCCAGCATCCCTGGGCTGTGGCTGCACCTCCCCATGTCAACCTCCGTCTTCACAAGGCCTTTTCCTGTGTCTCTGCAACCACAGGCCCCTCTCCTTTCTCTTAATAAAGATACCAGTCATTGAGTTTGAAAATTGCTAAGAGAGTCTGTTGTAAATCTTCTTAGCACAAAAAAAAATGACAGATATGTGAAGTGGTAGATATATTAATTAGTTTGATTTGATCACTCCGCTATGTGTATAAATGTCAAAACAAACATTGCACTC
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CCAGAGGGTTTGTTCATATGGAAGGCTAGGCCTGTCTCCTGCATTTCACCCTCTTGGCCTGGGGGCGGGACCCAAGAATGTGTGGCTCTAAAAGGTTCCCAGGCAATGCTGAGGCTGCTTTCTGAAGGAAAAACTGCAAGATACCAGGAGAGTTTCATTTAGATTGAAGAGTCGAGGAAGGCTCCTCTGAGAAAGAGTCTGCTAAGGAAGGAGGAGGTGGGTTCTGGGGACAGAGGTTCTCCCGTGGGTAAGGGTGGAGGGAAGCTCTCCTGGGGAGAAGGTGGGCAGGAGGACCAGAGGCTGGAGGGAGGAGGGCAGTCAGCCTCGGGGCTTCCCAGGAACAGGGACGGCCAGGGCAGGGTTTAGGGCAAGGAAAGCGTGTGAGCATATTTGTATTTTAGTAAATATTTACAGTTTGCCCTCCATGTCTGCAGTTTCATATCCATGGATTCAATCAACCACAATGAAAAACGTTGGGGAAAAAAATTGCATCGGTACTGAACATATACGGACTTTTTTTCTTGTCATTATTCCCTAAACAATACAGCATAACAATTATTCACATAGCATTTGCACTGTATTAGGTACTATAGGTAATCAGGAGATGCTGTAGATGGGAGGATGTCTGTAGGTTACACACAAATGCTGTGCCACTTTATATCAGGGGCTTGAGCATCCTCACATTTTGATATTTAAGGGAGGTCCTGGAACCAATTCCCCAGATACTGAGGGTCCACTGTCTGTGTCCCCTCGCCCCACCTTGCCTTTGTCTCCTGTCTCCTATCTCCACCCTGCCTCCCGCCAGCCTGTTGCTCCTGACCTGCCCGGGCACCCTGGAGCAGCACCCTATCTCAGAGCCTGGCTCAGTGTGTTCACTTCTGCAGAGAAACTAACTTGCCCAAGTCCACACTCAAAACATAGGCATTGCTGAGATGTGAAAAGCAGCTGTGGATGCTTTCTGCTACAGTCTGTGTGTTCTTTTCCATATCTGAATAAAAGGTCACCACCATTTGTATTTTAAAGAGAAAGAGAATTTATGGGTGGAAATTGGGGATTCCCTCATTCTCAGTCAGACAGAAAAGAGGGCCCCATTGTGTGCCTGATTGCAAATAAATTTAGCTTCCTCAGCCCAAGAATAGCAGAAGGGTTAAAATAAAGTCTGTATTTATGGCTCTGTCAAAGGAAGGCCCCTGCCTTGGCAGCCAGCCGGAATTAGCAGGGCAGCAGATGCCTGACTCAGTGCAGCATGGATTTCCCATAGGGAGCCTGGGGGCACAGCACAGAGAGACCACTTCTCTTTAGAAATGGGTCCCGGGCAGCCAGGCAGCCTTTAGTCACTGTAGATTGAATGCTCTGTCCATTTCAAAACCTGGGACTGGTCTATTGAAAGAGCTTATCCAGCTACTCTTTGCAGAGGTGCTGTGGGCAGGGTCCCCAGCCCAAATGCCCACCCATTTCCCAGAGCACAGTCAGGGCCAAGCCTGGCCTGTGGGGAAGGGAGGCCTTTCTCCCTGCTGGCTCGGTGCTCCCCGGATGCCTTCTCCATCGCTTGTCCTCTGCAGCACCCACAGCCAGCGTTCCTGATGTGCAGGGTCAGTCATTACCCAGGGTGTTCCGGACCCCACACAGATTCCTACAGGCCCTCATGATATTTTAAAACACAGCATCCTCAACCTTGAGGCGGAGGTCTTCATAACAAAGATACTATCAGTTCCCAAACTCAGAGATCAGGTGACTCCGACTCCTCCTTTATCCAATGTGCTCCTCATGGCCACTGTTGCCTGGGCCTCTCTGTCATGGGGAATCCCCAGATGCACCCAGGAGGGGCCCTCTCCCACTGCATCTGTCACTTCACAGCCCTGCGTAAACGTCCCTGTGCTAGGTCTTTTGCAGGCACAGCTTTTCCTCCATGAGTACGTATTTTGAAACTCAAGATCGCATTCATGCGTCTTCACCTGGAAGGGGTCCATGTGCCCCTCCTTCTGGCCACCATGCGAAGCCACACTGACGTGCCTCTCCCTCCCTCCAGGAAGCCTACGTGATGGCCATCGTGGACAACCCCCACGTGTGCCGCCTGCTGGGCATCTGCCTCACCTCCACCGTGCAGCTCATCACGCAGCTCATGCCCTTCGGCTGCCTCCTGGACTATGTCCGGGAACACAAAGACAATATTGGCTCCCAGTACCTGCTCAACTGGTGTGTGCAGATCGCAAAGGTAATCAGGGAAGGGAGATACGGGGAGGGGAGATAAGGAGCCAGGATCCTCACATGCGGTCTGCGCTCCTGGGATAGCAAGAGTTTGCCATGGGGATATGTGTGTGCGTGCATGCAGCACACACACATTCCTTTATTTTGGATTCAATCAAGTTGATCTTCTTGTGCACAAATCAGTGCCTGTCCCATCTGCATGTGGAAACTCTCATCAATCAGCTACCTTTGAAGAATTTTCTCTTTATTGAGTGCTCAGTGTGGTCTGATGTCTCTGTTCTTATTTCTCTGGAATTCTTTGTGAATACTGTGGTGATTTGTAGTGGAGAAGGAATATTGCTTCCCCCATTCAGGACTTGATAACAAGGTAAGCAAGCCAGGCCAAGGCCAGGAGGACCCAGGTGATAGTGGTGGAGTGGAGCAGGTGCCTTGCAGGAGGCCCAGTGAGGAGGTGCAAGGAGCTGACAGAGGGCGCAGCTGCTGCTGCTATGTGGCTGGGGCCTTGGCTAAGTGTCCCCCTTTCCACAGGCTCGCTCCAGAGCCAGGGCGGGGCTGAGAGAGCAGAGTGGTCAGGTAGCCCTGCCTGGGTGCTGGAGACAGGCACAGAACAACAAGCCAGGTATTTCACAGCTGGTGCGGACCCAGAAAGACTTCTGCTTTTGCCCCAAACCCCTCCCATCTCCATCCCAGTCTTGCATCAGTTATTTGCACTCAACTTGCTAAGTCCTATTTTTTTCTAACAATGGGTATACATTTCATCCCATTGACTTTAAAGGATTTGCAGGCAGGCCCTGTCTCTGAGAATACGCCGTTGCCCGTCATCTCTCTCCGACAGCAGGGCAGGGGGTCCAGAGATGTGCCAGGGACCAGAGGGAGGGAGCAGACACCCACCCGGCCTGGGCAGGTCCTCCTCATTGCTTGCATCCGCCTGGTTAGCAGTGGCAGTCAGTCCTGCCGAGTCATTCGTGAGGCGCTCACCCAACTCCAGGCAGATGTAAAAGGTGACCTACAAGAAGACAAACAAAAACATCTGGAGCGCTCTTATGCCAGCATCTGCCCTTGACACCACCAGGCAGGCTGTTGCTGGGAGCCGTGGTGCTTGGGTAAGCTCCTTCCCATGGCAGAGCTCCTGGGACGCATTGTAGAAGCAGGGACCACCTCCCAGGATAACCAGATAGCAGCACACCCTGCACAGCCCCTTTTACTCCAGCATCATCGGGCATTGATATCTCAGCTGCAGCCACAGGCGGCCCCCAGCACCCCAGGAAGTGGGGAGCGCTCATGCTTCTCTGAGCACAAAAATCACTGAATATTTTTGCCATTCTCATGGTCATAACCCGGGCCACAGAGTAGAACACTCCTATCACTGTTGTTAGACAGTGGTCCTGGGAGAGGGTCTTGTGTGCCTCGGATGCCAGGGCCTCTTTTTATTGGGAGGTGCTTGTTATTTCTGTGTGTGGCTGCATTTGTTTCCCAAGACTGCCACAACAAATCATCACCAACTTGGTAGCTCAACATAGCACAGCTTTATTCCCTCCTGGCTCTGGAGGCCAGGTGTCTAAAAGGCCATGCTCCCACAATGGTTCTGAGGAGGATCCTTCCTGCCTCTCTGGCTTCTGGTGGCTCCAGCATCCCTGGGCTGTGGCTGCACCTCCCCATGTCAACCTCCGTCTTCACAAGGCCTTTTCCTGTGTCTCTGCAACCACAGGCCCCTCTCCTTTCTCTTAATAAAGATACCAGTCATTGAGTTTGAAAATTGCTAAGAGAGTCTGTTGTAAATCTTCTTAGCACAAAAAAAAATGACAGATATGTGAAGTGGTAGATATATTAATTAGTTTGATTTGATCACTCCGCTATGTGTATAAATGTCAAAACAAACATTGCACTC
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Task1_train_11198
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Gene EGFR (epidermal growth factor receptor) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Non-small cell lung carcinoma
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AACAGCTACCACAGAGGACGCCTTCAACAAATGTGAAGAACGAACAAAAGGTACAAATGTGAAGAACGAACAGGGTAGAAAGAAAGGAGAAAGCAAGGGTGAGGGTGAGAAATCAAGGGACAGAGAAGAGAGAAGAGGAGATAGCCTGGGAGTTCACACAGCCAAGAAGGTAGACACTCAGTTGAACCAGCAAGAGGCTGAGCCTAACTCTCCCTTTCGAATGGGCAGGAGTTCATGATATTTAATAAACAGAGGCCTTGCTCTGTAAGAGACAGGGTACCAGGCAGAGAGCAAGTCAGCATCGCAGGAGTCAAACGAGGCAGACAGCGGGGGCAGGGAGCTTGCCTCTGAAGGAGACCCAGGCTGCCAGAGTAGCAGGGAGTCTGGGCCAGTCCTCTTTTGGGAAGCGCTTCCTCGGCTTCTGCCCCCCCTCTCCTCTCCCTTTCCACCCACCATCCTGACATAATACTTCCTAATCTGGAAGTGTTGTCCAGAGAAGAACCTGCTCATTTCCTCTTAAGTAGGCAGGGAAGCACTAACGTCCAGCAGCATCGGAAACCCGTAGGAGCGCTCTCGGCAGTGCAGGGTGAGGGGACAGTCCATGTAGTCATGAGACGTGGGTGTCAGGCAAGCGTCTCTTTTCCAAAAGAGAAAAACATTAAAGGCCTCACAAACGGCGCCCAAAGACTAATTCTGCATAGCATCTTTGCGAGACCCTAGGTTCTTATGATGACTGGTTTTGCCTGAGAAAGAAAAAATTTTAATTTTGCTCTGACATGCCAATTCAACAAATCATTTTCACATAATATTCATGCAAAAAAAAAACAATTTGCCAGAAAACTTGGGAATCCATCCACATCTACAGCTTTTCCCTGCAGTCACACTACAGTGGGATCCCTCCATACAGGAGCGGCAGAGTGGAGCAGGCTAGAGATGCCTGTTTGTTTCTGTTTGCTGCACCGCAGCAAGCATTTCTGTCGTGCCCACTCTGTACTAGAAAGTACATGAACATCAGCCATAAAGGGAACTAGAAAGGTGGCCCACCCTCTTGGTGGAGAGAGAAGAGAGTGTGGTAGAAACAATAATAAGAAGTCTGCAGAACTTGACCCCTCCCAGCCTCTCCCACCTGCCAGCCTGGCCCTTGCAGAGAGATGCAGGCTGCCATTCTTAGGCCAAAGCCTGGGACAGTTGGGCTCAGCAAGGTAGGCATCCGTCAAGCAAGGAGGAGCAGGGGTCAGCAGTGACCCCAGCAGCCAGCAGGGAGAAAGGTGCATGTGACAAGGACACCAGAGGCCGTGGGTCAGGATCAGCCAGGGTCAGGGTAGCATTTCTAGGAATTCACTCTGTTGGGCGCTGTGCTGGCTGCTTCTCACATATTATTCCTTTCTTACTCTCAGAGCAGAGATTTCAATTGCAGCGAGATTGTGGAGGCAGCCAGGGAGGTGGGGAGGGTGGTGTCTTCTAAAAGCATTTTCAGTATCCATGTGGTTTCAGTAATAATAATAATAATAAACCAGTGAAAAGTAAAACAGGACAAAAATCTTCATAGGCAGTGAACCATATCAGAGAGTCCAAGAAAGCACAATGAGAGTGTGGCTTAAAAACCCTGAACGACATTCCTTTGCACCAGCTTGGTGAGGAGGGCATGGTCCCCGCCACCCCCCACCCCCACTTTGCAGATAAACCACATGCAGGAAGGTCAGCCTGGCAAGTCCAGTAAGTTCAAGCCCAGGTCTCAACTGGGCAGCAGAGCTCCTGCTCTTCTTTGTCCTCATATACGAGCACCTCTGGACTTAAAACTTGAGGAACTGGATGGAGAAAAGTTAATGGTCAGCAGCGGGTTACATCTTCTTTCATGCGCCTTTCCATTCTTTGGATCAGTAGTCACTAACGTTCGCCAGCCATAAGTCCTCGACGTGGAGAGGCTCAGAGCCTGGCATGAACATGACCCTGAATTCGGATGCAGAGCTTCTTCCCATGATGATCTGTCCCTCACAGCAGGGTCTTCTCTGTTTCAGGGCATGAACTACTTGGAGGACCGTCGCTTGGTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTGGGTGCGGAAGAGAAAGAATACCATGCAGAAGGAGGCAAAGTAAGGAGGTGGCTTTAGGTCAGCCAGCATTTTCCTGACACCAGGGACCAGGCTGCCTTCCCACTAGCTGTATTGTTTAACACATGCAGGGGAGGATGCTCTCCAGACATTCTGGGTGAGCTCGCAGCAGCTGCTGCTGGCAGCTGGGTCCAGCCAGGGTCTCCTGGTAGTGTGAGCCAGAGCTGCTTTGGGAACAGTACTTGCTGGGACAGTGAATGAGGATGTTATCCCCAGGTGATCATTAGCAAATGTTAGGTTTCAGTCTCTCCCTGCAGGATATATAAGTCCCCTTCAATAGCGCAATTGGGAAAGGTCACAGCTGCCTTGGTGGTCCACTGCTGTCAAGGACACCTAAGGAACAGGAAAGGCCCCATGCGGACCCGAGCTCCCAGGGCTGTCTGTGGCTCGTGGCTGGGACAGGCAGCAATGGAGTCCTTCTCTCCCTTCACTGGCTCGGTTTCTCTTAGGGACCCTCACAGCACTAAGGGGTGCGCGTCCCCTGTCAGGCCCTCGAATGCCCTCCCACAGCCAGGCCCCTCTGAGGTTTCACTCTGGCCTGCTTGGCTCCTAGCAGCCACCAACCCATGATGCTGGGCCCTGAAAACACACGCAGACCTGGATGAGTGAGGCCACTGGGCACAACCAGGGCTCCCAGCTCACCAGAGCAGCCTGGGACACAGAGGGTGCTCAGAAACCTACCAGAGCAGCCCTGAACTCCGTCAGACTGAAATCCCCTGTTGCCGGGAGGAGGCGCCGGGCCTGGGGGACGGGTCCTGGGGTGATCTGGCTCGTCTGTGTGTGTCACTCGTAATTAGGTCCAGAGTGAGTTAACTTTTTCCAACAGAGGGAAACTAATAGTTGTCTCACTGCCTCATCTCTCACCATCCCAAGGTGCCTATCAAGTGGATGGCATTGGAATCAATTTTACACAGAATCTATACCCACCAGAGTGATGTCTGGAGCTACGGTGAGTCATAATCCTGATGCTAATGAGTTTGTACTGAGGCCAAGCTGGCTTTTATTGTTAGTTAATTTACATTATATCCTCTGACATGCAAGTATTTTCTTTCGAGATAATGACTAATGATAATGTAATCATTGCTGTCTATCTATTGTACTGAGAAAACACGGCAGAGGAAATCGAGTCCAGCTGCCGTCCAAAAGTCACTGGAGATTGCAATGAGCTCGTCTGGCAGGGTGGGGGGTATGGGAGGGAAAGAGCTTAGGAAACGGCTCTCCCTGCAAAGTCCAACCAAACTTTAACGTTAACCAAACCATTAATGTTGCCATGAATTTGAAGTGAACCAGAGGGAGGTGGCAGAAGAAGCTTAATGGGGAATAGTTCCGGTAGAGAAATGAGGCTTAAGATGAACTACCCTGGCCCTTATGTGTCAGAGAGAACGGCTTGACAAACACACACTGAGGATGTCTGCAGGGATAAAAGAAGAAAGGGAGATGACCCTTGCTTCTCGCTCTCGGGAGGACCATCTGGTCCGGCCCTGGGGATTCTCTGTTTCCTCTTCTGAATCCCAGTGTTGCCCAGCACTGGCCTGTACCCATCCTCACGAGGGCCGCTCTCCTCACCCGGCCCTAGGTCCCTGCCCTGTCCTGAGCCTACAGGGGCCTCCCATGTTGAGAAAGTGTTGCTGACACATTGTCTCTGACCGCTGTGCCAGGCATTTTCTGCTGAATTACCGCACTTGGTCCTTGAATTTCACCCAGCAACTTACTGAAAGGCTGGAACCCATGAACCTACCCCTTCACTGAGGAAAATAAGTTACCCCAGCCATCTACAGCGACAGGAGCAAGGGAGGAGTCGCCTCACCTCTCTAGAAATGTGTATTTGAGGAGAACACTATTGAAATGAATTTCCAAGAATAATCTAGTCAGTATTACAAAAGCAAAATTATTTGGGATATCGT
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AACAGCTACCACAGAGGACGCCTTCAACAAATGTGAAGAACGAACAAAAGGTACAAATGTGAAGAACGAACAGGGTAGAAAGAAAGGAGAAAGCAAGGGTGAGGGTGAGAAATCAAGGGACAGAGAAGAGAGAAGAGGAGATAGCCTGGGAGTTCACACAGCCAAGAAGGTAGACACTCAGTTGAACCAGCAAGAGGCTGAGCCTAACTCTCCCTTTCGAATGGGCAGGAGTTCATGATATTTAATAAACAGAGGCCTTGCTCTGTAAGAGACAGGGTACCAGGCAGAGAGCAAGTCAGCATCGCAGGAGTCAAACGAGGCAGACAGCGGGGGCAGGGAGCTTGCCTCTGAAGGAGACCCAGGCTGCCAGAGTAGCAGGGAGTCTGGGCCAGTCCTCTTTTGGGAAGCGCTTCCTCGGCTTCTGCCCCCCCTCTCCTCTCCCTTTCCACCCACCATCCTGACATAATACTTCCTAATCTGGAAGTGTTGTCCAGAGAAGAACCTGCTCATTTCCTCTTAAGTAGGCAGGGAAGCACTAACGTCCAGCAGCATCGGAAACCCGTAGGAGCGCTCTCGGCAGTGCAGGGTGAGGGGACAGTCCATGTAGTCATGAGACGTGGGTGTCAGGCAAGCGTCTCTTTTCCAAAAGAGAAAAACATTAAAGGCCTCACAAACGGCGCCCAAAGACTAATTCTGCATAGCATCTTTGCGAGACCCTAGGTTCTTATGATGACTGGTTTTGCCTGAGAAAGAAAAAATTTTAATTTTGCTCTGACATGCCAATTCAACAAATCATTTTCACATAATATTCATGCAAAAAAAAAACAATTTGCCAGAAAACTTGGGAATCCATCCACATCTACAGCTTTTCCCTGCAGTCACACTACAGTGGGATCCCTCCATACAGGAGCGGCAGAGTGGAGCAGGCTAGAGATGCCTGTTTGTTTCTGTTTGCTGCACCGCAGCAAGCATTTCTGTCGTGCCCACTCTGTACTAGAAAGTACATGAACATCAGCCATAAAGGGAACTAGAAAGGTGGCCCACCCTCTTGGTGGAGAGAGAAGAGAGTGTGGTAGAAACAATAATAAGAAGTCTGCAGAACTTGACCCCTCCCAGCCTCTCCCACCTGCCAGCCTGGCCCTTGCAGAGAGATGCAGGCTGCCATTCTTAGGCCAAAGCCTGGGACAGTTGGGCTCAGCAAGGTAGGCATCCGTCAAGCAAGGAGGAGCAGGGGTCAGCAGTGACCCCAGCAGCCAGCAGGGAGAAAGGTGCATGTGACAAGGACACCAGAGGCCGTGGGTCAGGATCAGCCAGGGTCAGGGTAGCATTTCTAGGAATTCACTCTGTTGGGCGCTGTGCTGGCTGCTTCTCACATATTATTCCTTTCTTACTCTCAGAGCAGAGATTTCAATTGCAGCGAGATTGTGGAGGCAGCCAGGGAGGTGGGGAGGGTGGTGTCTTCTAAAAGCATTTTCAGTATCCATGTGGTTTCAGTAATAATAATAATAATAAACCAGTGAAAAGTAAAACAGGACAAAAATCTTCATAGGCAGTGAACCATATCAGAGAGTCCAAGAAAGCACAATGAGAGTGTGGCTTAAAAACCCTGAACGACATTCCTTTGCACCAGCTTGGTGAGGAGGGCATGGTCCCCGCCACCCCCCACCCCCACTTTGCAGATAAACCACATGCAGGAAGGTCAGCCTGGCAAGTCCAGTAAGTTCAAGCCCAGGTCTCAACTGGGCAGCAGAGCTCCTGCTCTTCTTTGTCCTCATATACGAGCACCTCTGGACTTAAAACTTGAGGAACTGGATGGAGAAAAGTTAATGGTCAGCAGCGGGTTACATCTTCTTTCATGCGCCTTTCCATTCTTTGGATCAGTAGTCACTAACGTTCGCCAGCCATAAGTCCTCGACGTGGAGAGGCTCAGAGCCTGGCATGAACATGACCCTGAATTCGGATGCAGAGCTTCTTCCCATGATGATCTGTCCCTCACAGCAGGGTCTTCTCTGTTTCAGGGCATGAACTACTTGGAGGACCGTCGCTTGTTGCACCGCGACCTGGCAGCCAGGAACGTACTGGTGAAAACACCGCAGCATGTCAAGATCACAGATTTTGGGCTGGCCAAACTGCTGGGTGCGGAAGAGAAAGAATACCATGCAGAAGGAGGCAAAGTAAGGAGGTGGCTTTAGGTCAGCCAGCATTTTCCTGACACCAGGGACCAGGCTGCCTTCCCACTAGCTGTATTGTTTAACACATGCAGGGGAGGATGCTCTCCAGACATTCTGGGTGAGCTCGCAGCAGCTGCTGCTGGCAGCTGGGTCCAGCCAGGGTCTCCTGGTAGTGTGAGCCAGAGCTGCTTTGGGAACAGTACTTGCTGGGACAGTGAATGAGGATGTTATCCCCAGGTGATCATTAGCAAATGTTAGGTTTCAGTCTCTCCCTGCAGGATATATAAGTCCCCTTCAATAGCGCAATTGGGAAAGGTCACAGCTGCCTTGGTGGTCCACTGCTGTCAAGGACACCTAAGGAACAGGAAAGGCCCCATGCGGACCCGAGCTCCCAGGGCTGTCTGTGGCTCGTGGCTGGGACAGGCAGCAATGGAGTCCTTCTCTCCCTTCACTGGCTCGGTTTCTCTTAGGGACCCTCACAGCACTAAGGGGTGCGCGTCCCCTGTCAGGCCCTCGAATGCCCTCCCACAGCCAGGCCCCTCTGAGGTTTCACTCTGGCCTGCTTGGCTCCTAGCAGCCACCAACCCATGATGCTGGGCCCTGAAAACACACGCAGACCTGGATGAGTGAGGCCACTGGGCACAACCAGGGCTCCCAGCTCACCAGAGCAGCCTGGGACACAGAGGGTGCTCAGAAACCTACCAGAGCAGCCCTGAACTCCGTCAGACTGAAATCCCCTGTTGCCGGGAGGAGGCGCCGGGCCTGGGGGACGGGTCCTGGGGTGATCTGGCTCGTCTGTGTGTGTCACTCGTAATTAGGTCCAGAGTGAGTTAACTTTTTCCAACAGAGGGAAACTAATAGTTGTCTCACTGCCTCATCTCTCACCATCCCAAGGTGCCTATCAAGTGGATGGCATTGGAATCAATTTTACACAGAATCTATACCCACCAGAGTGATGTCTGGAGCTACGGTGAGTCATAATCCTGATGCTAATGAGTTTGTACTGAGGCCAAGCTGGCTTTTATTGTTAGTTAATTTACATTATATCCTCTGACATGCAAGTATTTTCTTTCGAGATAATGACTAATGATAATGTAATCATTGCTGTCTATCTATTGTACTGAGAAAACACGGCAGAGGAAATCGAGTCCAGCTGCCGTCCAAAAGTCACTGGAGATTGCAATGAGCTCGTCTGGCAGGGTGGGGGGTATGGGAGGGAAAGAGCTTAGGAAACGGCTCTCCCTGCAAAGTCCAACCAAACTTTAACGTTAACCAAACCATTAATGTTGCCATGAATTTGAAGTGAACCAGAGGGAGGTGGCAGAAGAAGCTTAATGGGGAATAGTTCCGGTAGAGAAATGAGGCTTAAGATGAACTACCCTGGCCCTTATGTGTCAGAGAGAACGGCTTGACAAACACACACTGAGGATGTCTGCAGGGATAAAAGAAGAAAGGGAGATGACCCTTGCTTCTCGCTCTCGGGAGGACCATCTGGTCCGGCCCTGGGGATTCTCTGTTTCCTCTTCTGAATCCCAGTGTTGCCCAGCACTGGCCTGTACCCATCCTCACGAGGGCCGCTCTCCTCACCCGGCCCTAGGTCCCTGCCCTGTCCTGAGCCTACAGGGGCCTCCCATGTTGAGAAAGTGTTGCTGACACATTGTCTCTGACCGCTGTGCCAGGCATTTTCTGCTGAATTACCGCACTTGGTCCTTGAATTTCACCCAGCAACTTACTGAAAGGCTGGAACCCATGAACCTACCCCTTCACTGAGGAAAATAAGTTACCCCAGCCATCTACAGCGACAGGAGCAAGGGAGGAGTCGCCTCACCTCTCTAGAAATGTGTATTTGAGGAGAACACTATTGAAATGAATTTCCAAGAATAATCTAGTCAGTATTACAAAAGCAAAATTATTTGGGATATCGT
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Task1_train_11199
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This variant impacts the gene PSPH (phosphoserine phosphatase) on Chromosome 7. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Deficiency of phosphoserine phosphatase
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CACAGGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCTCTGTCATCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCTCCTACAGGGTTCAAGCGATTCTCTTGTGTCAGCCTCCCGAGTAGCTGGGACAACAGATGCGCACCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGTCTTGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCATGCCCAGCCTTATATGTTTTTCTAAATGCACTTAGAAATCAATGGGTAGGGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGCTCAGGCATTCGAGACCAGCCTGACCAAAATAGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGCACATGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATTGCTTCAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGACTGCACCACTGCACACCAGCTTGGCAACAGTGCGAGACTCTGTCTCAAAAAACAACAACAACAAAAAAAAAACAATGGGTAGGGTTTGTCTGCTTTAGGAAACCGTTCCAGAACTCTACTCTGCCCATGGACCCAGAAAAACACAAGATGAGGACAAACAAGGAAAGCTTAGGTTTTCCCTGGAGAAAGAGGAAAGGCAGAAACCGACAGGACCAGACAACTGGCCAGACAAGACCACGTGTAAGTGCCAAAAGCACCACACAGGCCACGCCTTTAAATCCAGCAGTTTGGGAGGCCAAGGTAGAAAATCACTTGAGGCCAGGAGCTTGAGAACAGCCTGGGCAACATAGCAAGACCCCCATCTCTACAAAAAATATTTTAAAGGCTGGGTATAGTGGCTCAAACCTATAATTCCAACACTTTGGGAGGCTGAGGTGGGAAAATTGATCATTTGAGCCCACAAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGTGTCTACAGAAAATTAAAAAAAAAAAAAATTAGGCATGGTGGCCTACGTCTGTAGTCCCAGCTACTTAGGAAGCTGAGGCAGGAGGATCCCTTGAGCCCAGAAGGCTGATGCTGCAGTGAGCTCTATTCATGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCTCTCAAAAAAAATTTTTTTTTAAAAATTAGCTGGGCATGGTGGCATGCACCTGTAGTCCCCACTATTAAGGAGGCTAAGGAGGGAGGGCCACTTGACCCCAGGAGTTCAACGCTGTAGTAAGCCATGATTATACTACTGTACTCCAACATGGGCAACAGAATGAGACGCTGACTCTAAAAAAAATAATAATAGGCCGGGTGCAGTGGCTCACAGCTATAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCATTTGAGGTCAAGAGTTCAAGCAGTGTGGTCAACATGGCGAAACCCATCTCTACTAAAAATACAAAAATTACCTAGGTGTGCTGGTGGGCACCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCATGAACTTGGGAGGCAGAAGCTGCAGTGAGCTGACATTTCACCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTTCATCTCGAAAAAATACAATTTAAAAAAATAATTAAAAAATTAAAAAATGAAAATGAAAATAAATAAACCACCCAGAGGGCACTCTAAAGGAATAGTTAGATGCTCTTGGGAGGATGTGCCCCCCAACACTGGTGCTGAAATACACCTGGAGCCGGGGTTCCTCTTACCTTATGCCGGGGGTCAGGTGTGGGGGTTGCTCTGCTATGAGTCTCTGCACCTGCTCCCTGGAGGGCTGGATGAGGGCTAAGCGCTCTGTGAGAGCAGCTTTGAAAGGCACTGCCCCGCCCATGGCTCGCCGTGTCCTAGGAGGGAGACCCAACAGTCAGGCCAGCCAGGTCCGATGTCCTCAAGGTTAACATGCCTTACTGCCCCGGGTCTGCACGACATCCACCAAAAGGAAGATGCTACCAAGAGCCCAGTGTGCAACAGACAGGCTTTGCTACTAGGAGAGCAAGGCCTTGGAATAAACTTTTGAAGGATTGCTTGAAAATAACATTAACAGGCTGGGTGCAGTGACTCATGCCCATAATCCCAAACACTTTGGGAAGCTGAGGTGGGCAGATCACCTGAAGCCAGGAGTCTGAGACCAGCCTGGTCAACATGACAAAACCCCATCTTTACTAAAAAAATGCAAAAATTAGCCAGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATTGCTGGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCTCACCACTGCACCCCAGCCTGGATGACAGAGTTAAGATTCCATCTAAAAAAAAAAAAAGGCACACAGCCTATCCATAGGTATTTTTCTTGCAAGCTGTGAGCTGTCATAAATCAAGAAAGAGACCAAAGGTTAAGCATTCTTCCATGAAAGGCAGTTGAAAATGAAATAGTGTCCGGGTGCAGCAGCTCATGCCTGTAATCCCAGCACTTTGGTAGCCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACTACCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAAAAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGGTCACTGCACTCCAGCCTGGGTGACAAAATGAGACTCCGTCTCGAAAAAAAAAAAAAGAAAATGACATGGTGCATGACTGGGGGACTGGGACTGCAGAGGGAGGTCCCCAGCTGCAGGGCGGGAGGGCAGGAGGGAGAGAGGGGATCTGACCCAGGATCCACCAAGAGACTCTGAACCTTTCCAGGGAACCACTAAGGTCACACTTTCAACCATGACACAAAGCCACTGGACACTTGGACCTCGCCCCCCAGGCCATCTTCTTTAGTTAGTGACGGTTGTCATTCCCCGATCAAGCTAAGAACATGTCTTATCCATGTTTGTTTGCCATAAATATTTATATAAATGAATGAATATGTCAAATTCAGCTCTAAGGAATGAAAGAAAAAGCCTAGTGCAAATGTTCCATAGCCAGGGTCTAGCACTTCATCCAAAACAGTCACTCTTTAGAAAGTCTTTATCATTTCATAAAGTGAATAAATGCTATCCCTACATTTCTGACACCGCGTCCTCAACGCCACAGATTTTGGCTAGCTCATCGATTCCTTCTTCTCTGATGACCGTGCTGTCAACATCAAAACACACAGCATCTGCTGAGTAGAAAAGCTTCCTCAGCTCTGAGTGGGAGACCATCGCTGGAAGAATTTTCCTCCTACAAGAAAAAAGATAAATGTATTTAAAGACATCAAATAAAATTATGAAAAGATCCCACCTTGCCTACTAAGCCAATCTAATTTGTGTCAAAGTCAGTGCAGGCCACATAAGAGTGTTCTCACAGATTCATTTTTTTTTCCTTTTCTTTTTGTTTACTTCCCACACTACACCAGTTTCTTCTTTCTTTCTTTCTTTTTTTTTTTTAGGTGGAGTCTTACTCTGTTGCCCAGGCTGGAGGGCAGTGGTACGATCTTGGCTTACTGCAACCTCCACCACTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTCAAATACCTGTGCCTCCTTGAAGCCATCTTTCTTTTCTTTTAGATATATATATAGTTGTTTTTTTTTTTTCTACCTAATTGTAGTGAGGAAGCAAGCATTAAAGCGGAGGTGTGAGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCCGAGAACATCCTGGCTAACACAG
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CACAGGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCTCTGTCATCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCTCCTACAGGGTTCAAGCGATTCTCTTGTGTCAGCCTCCCGAGTAGCTGGGACAACAGATGCGCACCACCACGCCCAGCTAACTTTTGTATTTTTAGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGTCTTGGCCTCCCAAAGTGCTGGGATTACATGCATGAGCCACCATGCCCAGCCTTATATGTTTTTCTAAATGCACTTAGAAATCAATGGGTAGGGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACGAGCTCAGGCATTCGAGACCAGCCTGACCAAAATAGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGCACATGCCTGTAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATTGCTTCAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGACTGCACCACTGCACACCAGCTTGGCAACAGTGCGAGACTCTGTCTCAAAAAACAACAACAACAAAAAAAAAACAATGGGTAGGGTTTGTCTGCTTTAGGAAACCGTTCCAGAACTCTACTCTGCCCATGGACCCAGAAAAACACAAGATGAGGACAAACAAGGAAAGCTTAGGTTTTCCCTGGAGAAAGAGGAAAGGCAGAAACCGACAGGACCAGACAACTGGCCAGACAAGACCACGTGTAAGTGCCAAAAGCACCACACAGGCCACGCCTTTAAATCCAGCAGTTTGGGAGGCCAAGGTAGAAAATCACTTGAGGCCAGGAGCTTGAGAACAGCCTGGGCAACATAGCAAGACCCCCATCTCTACAAAAAATATTTTAAAGGCTGGGTATAGTGGCTCAAACCTATAATTCCAACACTTTGGGAGGCTGAGGTGGGAAAATTGATCATTTGAGCCCACAAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGTGTCTACAGAAAATTAAAAAAAAAAAAAATTAGGCATGGTGGCCTACGTCTGTAGTCCCAGCTACTTAGGAAGCTGAGGCAGGAGGATCCCTTGAGCCCAGAAGGCTGATGCTGCAGTGAGCTCTATTCATGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCTCTCAAAAAAAATTTTTTTTTAAAAATTAGCTGGGCATGGTGGCATGCACCTGTAGTCCCCACTATTAAGGAGGCTAAGGAGGGAGGGCCACTTGACCCCAGGAGTTCAACGCTGTAGTAAGCCATGATTATACTACTGTACTCCAACATGGGCAACAGAATGAGACGCTGACTCTAAAAAAAATAATAATAGGCCGGGTGCAGTGGCTCACAGCTATAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCATTTGAGGTCAAGAGTTCAAGCAGTGTGGTCAACATGGCGAAACCCATCTCTACTAAAAATACAAAAATTACCTAGGTGTGCTGGTGGGCACCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCATGAACTTGGGAGGCAGAAGCTGCAGTGAGCTGACATTTCACCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTTCATCTCGAAAAAATACAATTTAAAAAAATAATTAAAAAATTAAAAAATGAAAATGAAAATAAATAAACCACCCAGAGGGCACTCTAAAGGAATAGTTAGATGCTCTTGGGAGGATGTGCCCCCCAACACTGGTGCTGAAATACACCTGGAGCCGGGGTTCCTCTTACCTTATGCCGGGGGTCAGGTGTGGGGGTTGCTCTGCTATGAGTCTCTGCACCTGCTCCCTGGAGGGCTGGATGAGGGCTAAGCGCTCTGTGAGAGCAGCTTTGAAAGGCACTGCCCCGCCCGTGGCTCGCCGTGTCCTAGGAGGGAGACCCAACAGTCAGGCCAGCCAGGTCCGATGTCCTCAAGGTTAACATGCCTTACTGCCCCGGGTCTGCACGACATCCACCAAAAGGAAGATGCTACCAAGAGCCCAGTGTGCAACAGACAGGCTTTGCTACTAGGAGAGCAAGGCCTTGGAATAAACTTTTGAAGGATTGCTTGAAAATAACATTAACAGGCTGGGTGCAGTGACTCATGCCCATAATCCCAAACACTTTGGGAAGCTGAGGTGGGCAGATCACCTGAAGCCAGGAGTCTGAGACCAGCCTGGTCAACATGACAAAACCCCATCTTTACTAAAAAAATGCAAAAATTAGCCAGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATTGCTGGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCTCACCACTGCACCCCAGCCTGGATGACAGAGTTAAGATTCCATCTAAAAAAAAAAAAAGGCACACAGCCTATCCATAGGTATTTTTCTTGCAAGCTGTGAGCTGTCATAAATCAAGAAAGAGACCAAAGGTTAAGCATTCTTCCATGAAAGGCAGTTGAAAATGAAATAGTGTCCGGGTGCAGCAGCTCATGCCTGTAATCCCAGCACTTTGGTAGCCCAAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACTACCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAAAAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGGTCACTGCACTCCAGCCTGGGTGACAAAATGAGACTCCGTCTCGAAAAAAAAAAAAAGAAAATGACATGGTGCATGACTGGGGGACTGGGACTGCAGAGGGAGGTCCCCAGCTGCAGGGCGGGAGGGCAGGAGGGAGAGAGGGGATCTGACCCAGGATCCACCAAGAGACTCTGAACCTTTCCAGGGAACCACTAAGGTCACACTTTCAACCATGACACAAAGCCACTGGACACTTGGACCTCGCCCCCCAGGCCATCTTCTTTAGTTAGTGACGGTTGTCATTCCCCGATCAAGCTAAGAACATGTCTTATCCATGTTTGTTTGCCATAAATATTTATATAAATGAATGAATATGTCAAATTCAGCTCTAAGGAATGAAAGAAAAAGCCTAGTGCAAATGTTCCATAGCCAGGGTCTAGCACTTCATCCAAAACAGTCACTCTTTAGAAAGTCTTTATCATTTCATAAAGTGAATAAATGCTATCCCTACATTTCTGACACCGCGTCCTCAACGCCACAGATTTTGGCTAGCTCATCGATTCCTTCTTCTCTGATGACCGTGCTGTCAACATCAAAACACACAGCATCTGCTGAGTAGAAAAGCTTCCTCAGCTCTGAGTGGGAGACCATCGCTGGAAGAATTTTCCTCCTACAAGAAAAAAGATAAATGTATTTAAAGACATCAAATAAAATTATGAAAAGATCCCACCTTGCCTACTAAGCCAATCTAATTTGTGTCAAAGTCAGTGCAGGCCACATAAGAGTGTTCTCACAGATTCATTTTTTTTTCCTTTTCTTTTTGTTTACTTCCCACACTACACCAGTTTCTTCTTTCTTTCTTTCTTTTTTTTTTTTAGGTGGAGTCTTACTCTGTTGCCCAGGCTGGAGGGCAGTGGTACGATCTTGGCTTACTGCAACCTCCACCACTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTCAAATACCTGTGCCTCCTTGAAGCCATCTTTCTTTTCTTTTAGATATATATATAGTTGTTTTTTTTTTTTCTACCTAATTGTAGTGAGGAAGCAAGCATTAAAGCGGAGGTGTGAGGCCGGGCGCGGTGGCTCAGGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCCGAGAACATCCTGGCTAACACAG
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Subsets and Splits
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