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_13100
|
This sequence change occurs on Chromosome 9, altering MUSK (muscle associated receptor tyrosine kinase). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; not provided
|
TTAAAGACATGGCTTGGGCTAGGCATGAGGTTTTCTTATGCCCATCCATCTATGCATCCATCCTTAAATCTATCCATGCATCCACCTATGCATTAATTCATCCATCCACCCATCAACATATATTGAAAACCCATAGTGAGCCATGTGTAGTATTAGACCTGAGGTTACAAGGATGAATAAAATACAGTCTTCCTCTCAATAATTATTATATTTTGAAGTCCCACCTAAGAGTTGGGTTGGAGTAATTACAATATAGAAAACATTTTGAGGTCTTAAATAAATGTATATACATATATAATTGTAAATTATATCTATACACATGTATATATAATTGTTCATAATAATCACAAAGTAGAAATCTTTTGTATAGTATTTTCTTTATCAGAGTGGAAAATTTCATTAAATCAATTTAGTTCAAAACTTTATTTCTCAGAGAAATATTTTGTCATTTTTTTCCAGTATAAGAAATTATTTTTAAATCAACTCAACCAGCATAACAATGGTAAAGCCAGTTGATGAGATAGGTAAGTCCCTGTTAACTAAAGATTATCCAAAAAGGATCCCACAGAAGAAACTTCTAAGTATTATCCAGTTGGTATTTCTTTATTTTTTCCCTTTAGTTTACAGAAATGTGCTAATTGAGGTCCTTGGAATTAAAAATTAATGCCAAAATAAATAAGCCAAGATAGCAGTATTCCTCATTTCTCCTCTTTTTCAAACAGATACTTTTAACTTTTGCCTGAAAAAACCCAATAGATCTAATAATCTATTTTTAAGATGATGTGAAATTATGCCCATCTTATCTAATATTCCAAGTTCTCCAGTTTCCCTCTCAAATATATCAAGACTTTAAGATTTGAAAATGATCTTCTGGCTTTAAATCTAAGACTTTATTTATATTAACTTTTTTGGTAGCATGAACATTGTAAAACCTAAATTTCAAAATGTTTTACTGCAGCAACTTAAATACTTCATCTAAGACACTTGAATTGTATTTGTTATTGTTTCCAAACTTGATACATCTTTCTTATTAACATCCTTCATAGAAGTAAACAGAAACAGACAGCAATTACATTACATACTCAGAGCAAGCATCCATTCATAAATTAACTCACCAAACATTATGAGGCATCTGCTCTGCCAGACACGTGGTAGGTGTGGGGAATTTTTAAAGAAGAATAAGGTTCAATCTCTCCTTTCAAAGTGCTAAAACGTTGGGGAGAAACCTCAAATAGTCAAATGATTATAAAATAGGATGGTAGGTTCTCTGTGAAAGGATGACAGTAGGAAAATCTAACAGTTACTGGAAGGATCAGGAGCTGAGGCACCCTAGGGAGAGTGATAAACTGAATCTTAAAGGCAAAGAGGAGATGTTTAGGCAGAGAAATAGGGTCAGGGTTCAACCATGGTGTTGTCAACAAAAAACCAGGGCCTCCAGATTTCAGAGAGAAGAGCCACTCCAGAGAACTGATACACCATGTACTTATATGCACCATGAACTTGATGCACCATGTACGATGTACTTATGACAAGTGCCCAGGACAACAGCGCTCTGCTGGAAGTCCTCAAAAACTTTAGCCAAGGGACAGAAACCCCACTACCCAGAGTGCATTTCCTAGCTGAGACTCCTTTTGTGTTGTGATTAAAAGGATACAAATATTAAAAAACAAACATACGACAACAACAACAAAAAACAGGGCTTCATATGTTCTGACATGGTCGTTTGCTTTTGGAGTGCTCTTTCCATTGTTTCATTGTAGAAACTGAGACTAACAGGGATGGTCTTTTGGTTCCAGGAGTGTGTGCTGTCGGGAAGCCAATGTGCCTGCTCTTTGAATACATGGCCTATGGTGACCTCAATGAGTTCCTCCGCAGCATGTCCCCTCACACCGTGTGCAGCCTCAGTCACAGTGACTTGTCTATGAGGGCTCAGGTCTCCAGCCCTGGGCCCCCACCCCTCTCCTGTGCTGAGCAGCTTTGCATTGCCAGGCAGGTGGCAGCTGGCATGGCTTACCTCTCAGAACGTAAGTTTGTTCACCGAGATTTAGCCACCAGGAACTGCCTGGTGGGCGAGAACATGGTGGTGAAAATTGCCGACTTTGGCCTCTCCAGGAACATCTACTCAGCAGACTACTACAAAGCTAATGAAAACGACGCTATCCCTATCCGTTGGATGCCACCAGAGTCCATTTTTTATAACCGCTACACTACAGAGTCTGATGTGTGGGCCTATGGCGTGGTCCTCTGGGAGATCTTCTCCTATGGCCTGCAGCCCTACTATGGGATGGCCCATGAGGAGGTCATTTACTACGTGCGAGATGGCAACATCCTCTCCTGCCCTGAGAACTGCCCCGTGGAGCTGTACAATCTCATGCGTCTATGTTGGAGCAAGCTGCCTGCAGACAGACCCAGTTTCACCAGTATTCACCGAATTCTGGAACGCATGTGTGAGAGGGCAGAGGGAACTGTGAGTGTCTAAGGTTGAAGACGTTCAAATAAAATGCTGCAGTTTCCTCTCAGACTCTGTGAGCCAGGGGAATCCTACACCAGAGGCCCAACAAGACCCACATAGGAAAGAGTAAGAGTAAACATGAGTAGTGTGTTGTTTGCTTCCCAGGGAGAGCAAAGACAGTGCAAAACCCATGTGGTAGACGGACCCATTGAAAGCCAGTGATTGGAAACACAGGCTAGGAAATGTGTCAGATAATGGAGACAACTATTCTTCTTCATGAAGGTTTGTAATACACACTGCACAGGGAAGAATGTCATCCTGTTCAGTTTCCAAAGTAGCTGGTCACAGAGTAAAGCTCTGCTGTATTAAATTTTAATATGAAATGGGATTCAGAGCTTCATTTTTTAATTGAGTTAATTCCTGTCCATTGTGAAAGTAGCTTAATCGTCATGTAAGACACTTAGGTGAAGTACAGAAAACTAAAAAGAAGGAAAAGCCACTCATTCTGTCTCCCCCCAAAGACGAGTCTTAGTGTTTTATTAAATCTTTCTTGCATTTAATGCATAATTTTATATTTGTTTGTATTCTGCAGAGTTGTGGTTACATTTTATTGATAGAGGGTTTCTAAGGAATGAAACAGCAAATCAGCAAGCCTGTAACTCTGAGTTCCCTTTTCTGTCCTGTGCCCCTCCTTTTTTCCTTTCTGTGCATTTGTCATGAATTAAGTCTGCTTATTTTATTCCTCCAGTTTTCTTGAAACAAGTTTTTGTATCTTACTGATTTACCTTTTCCTTTAAAAATTGTATTGGTATCTTTTCCATTGCTTTAATCTTTATTTCTTCTTCTTTCCAGGACTTCTGTCCTTTTTTAGTTATTAAGCTATTTTTTTCTTTTATTTCATTCATGTAATAAACACTCTGGCAGAAATAATAACATTTTAAATACCATTGTAGATTGATATGTATATGCCTTTTGCAAAGTATTACTATTTTTCCTGCATTTGCCTTTGAAGCCACACATTTCAACATTCTCACCTATTAATATTATTACTAGAGTCTATTTAAATCTCTTAAACCATAATTTATAATATGAGATTTCACAAGATACACTTGTGGCTCTGAGTTATTTCAAAACTGATATTTCTGTGCATTCTGACATTTTATTCCTTTTAGAAACAAATTCAGTTGGCTGTAGAATTAATATCGTTCTGCTTAACAACTTTGTGCATGACATATTAACTGATTTTGTTGTATTTCATGATTTAAAAAAAAAAGCAGCAGCTCTGGAACTCAGATTCCTGGGGGTTCAGATTTTTTCTCAGTGGATCCTCACACAATACATCTTTATCTAAGTCCATACATGATCTGAGTTTATTTCTGATATAGCAGGAACCCAAATTCTCCTGAAAACGAACAGGGAAGAGAAAATAACAGTCTACTCTATACCAGCTTATCTTAATTCAGACTAATTGGTAGTTAGGGCATTGGAGGAATGGTGTGAATTCTTGAAAGTAGATTTTCGCTGTCTGCTGGAAAACTCTGCCTGAAATCCCCAAATCTGCCTCATGTAACAGCTTGACATCTTTGGTGGGAAACCTGCCATTTCTTATTCATAGTGTCTCCAGGCAACCAAGACAAAAATGTA
|
TTAAAGACATGGCTTGGGCTAGGCATGAGGTTTTCTTATGCCCATCCATCTATGCATCCATCCTTAAATCTATCCATGCATCCACCTATGCATTAATTCATCCATCCACCCATCAACATATATTGAAAACCCATAGTGAGCCATGTGTAGTATTAGACCTGAGGTTACAAGGATGAATAAAATACAGTCTTCCTCTCAATAATTATTATATTTTGAAGTCCCACCTAAGAGTTGGGTTGGAGTAATTACAATATAGAAAACATTTTGAGGTCTTAAATAAATGTATATACATATATAATTGTAAATTATATCTATACACATGTATATATAATTGTTCATAATAATCACAAAGTAGAAATCTTTTGTATAGTATTTTCTTTATCAGAGTGGAAAATTTCATTAAATCAATTTAGTTCAAAACTTTATTTCTCAGAGAAATATTTTGTCATTTTTTTCCAGTATAAGAAATTATTTTTAAATCAACTCAACCAGCATAACAATGGTAAAGCCAGTTGATGAGATAGGTAAGTCCCTGTTAACTAAAGATTATCCAAAAAGGATCCCACAGAAGAAACTTCTAAGTATTATCCAGTTGGTATTTCTTTATTTTTTCCCTTTAGTTTACAGAAATGTGCTAATTGAGGTCCTTGGAATTAAAAATTAATGCCAAAATAAATAAGCCAAGATAGCAGTATTCCTCATTTCTCCTCTTTTTCAAACAGATACTTTTAACTTTTGCCTGAAAAAACCCAATAGATCTAATAATCTATTTTTAAGATGATGTGAAATTATGCCCATCTTATCTAATATTCCAAGTTCTCCAGTTTCCCTCTCAAATATATCAAGACTTTAAGATTTGAAAATGATCTTCTGGCTTTAAATCTAAGACTTTATTTATATTAACTTTTTTGGTAGCATGAACATTGTAAAACCTAAATTTCAAAATGTTTTACTGCAGCAACTTAAATACTTCATCTAAGACACTTGAATTGTATTTGTTATTGTTTCCAAACTTGATACATCTTTCTTATTAACATCCTTCATAGAAGTAAACAGAAACAGACAGCAATTACATTACATACTCAGAGCAAGCATCCATTCATAAATTAACTCACCAAACATTATGAGGCATCTGCTCTGCCAGACACGTGGTAGGTGTGGGGAATTTTTAAAGAAGAATAAGGTTCAATCTCTCCTTTCAAAGTGCTAAAACGTTGGGGAGAAACCTCAAATAGTCAAATGATTATAAAATAGGATGGTAGGTTCTCTGTGAAAGGATGACAGTAGGAAAATCTAACAGTTACTGGAAGGATCAGGAGCTGAGGCACCCTAGGGAGAGTGATAAACTGAATCTTAAAGGCAAAGAGGAGATGTTTAGGCAGAGAAATAGGGTCAGGGTTCAACCATGGTGTTGTCAACAAAAAACCAGGGCCTCCAGATTTCAGAGAGAAGAGCCACTCCAGAGAACTGATACACCATGTACTTATATGCACCATGAACTTGATGCACCATGTACGATGTACTTATGACAAGTGCCCAGGACAACAGCGCTCTGCTGGAAGTCCTCAAAAACTTTAGCCAAGGGACAGAAACCCCACTACCCAGAGTGCATTTCCTAGCTGAGACTCCTTTTGTGTTGTGATTAAAAGGATACAAATATTAAAAAACAAACATACGACAACAACAACAAAAAACAGGGCTTCATATGTTCTGACATGGTCGTTTGCTTTTGGAGTGCTCTTTCCATTGTTTCATTGTAGAAACTGAGACTAACAGGGATGGTCTTTTGGTTCCAGGAGTGTGTGCTGTCGGGAAGCCAATGTGCCTGCTCTTTGAATACATGGCCTATGGTGACCTCAATGAGTTCCTCCGCAGCATGTCCCCTCACACCGTGTGCAGCCTCAGTCACAGTGACTTGTCTATGAGGGCTCAGGTCTCCAGCCCTGGGCCCCCACCCCTCTCCTGTGCTGAGCAGCTTTGCATTGCCAGGCAGGTGGCAGCTGGCATGGCTTACCTCTCAGAACGTAAGTTTGTTCACCGAGATTTAGTCACCAGGAACTGCCTGGTGGGCGAGAACATGGTGGTGAAAATTGCCGACTTTGGCCTCTCCAGGAACATCTACTCAGCAGACTACTACAAAGCTAATGAAAACGACGCTATCCCTATCCGTTGGATGCCACCAGAGTCCATTTTTTATAACCGCTACACTACAGAGTCTGATGTGTGGGCCTATGGCGTGGTCCTCTGGGAGATCTTCTCCTATGGCCTGCAGCCCTACTATGGGATGGCCCATGAGGAGGTCATTTACTACGTGCGAGATGGCAACATCCTCTCCTGCCCTGAGAACTGCCCCGTGGAGCTGTACAATCTCATGCGTCTATGTTGGAGCAAGCTGCCTGCAGACAGACCCAGTTTCACCAGTATTCACCGAATTCTGGAACGCATGTGTGAGAGGGCAGAGGGAACTGTGAGTGTCTAAGGTTGAAGACGTTCAAATAAAATGCTGCAGTTTCCTCTCAGACTCTGTGAGCCAGGGGAATCCTACACCAGAGGCCCAACAAGACCCACATAGGAAAGAGTAAGAGTAAACATGAGTAGTGTGTTGTTTGCTTCCCAGGGAGAGCAAAGACAGTGCAAAACCCATGTGGTAGACGGACCCATTGAAAGCCAGTGATTGGAAACACAGGCTAGGAAATGTGTCAGATAATGGAGACAACTATTCTTCTTCATGAAGGTTTGTAATACACACTGCACAGGGAAGAATGTCATCCTGTTCAGTTTCCAAAGTAGCTGGTCACAGAGTAAAGCTCTGCTGTATTAAATTTTAATATGAAATGGGATTCAGAGCTTCATTTTTTAATTGAGTTAATTCCTGTCCATTGTGAAAGTAGCTTAATCGTCATGTAAGACACTTAGGTGAAGTACAGAAAACTAAAAAGAAGGAAAAGCCACTCATTCTGTCTCCCCCCAAAGACGAGTCTTAGTGTTTTATTAAATCTTTCTTGCATTTAATGCATAATTTTATATTTGTTTGTATTCTGCAGAGTTGTGGTTACATTTTATTGATAGAGGGTTTCTAAGGAATGAAACAGCAAATCAGCAAGCCTGTAACTCTGAGTTCCCTTTTCTGTCCTGTGCCCCTCCTTTTTTCCTTTCTGTGCATTTGTCATGAATTAAGTCTGCTTATTTTATTCCTCCAGTTTTCTTGAAACAAGTTTTTGTATCTTACTGATTTACCTTTTCCTTTAAAAATTGTATTGGTATCTTTTCCATTGCTTTAATCTTTATTTCTTCTTCTTTCCAGGACTTCTGTCCTTTTTTAGTTATTAAGCTATTTTTTTCTTTTATTTCATTCATGTAATAAACACTCTGGCAGAAATAATAACATTTTAAATACCATTGTAGATTGATATGTATATGCCTTTTGCAAAGTATTACTATTTTTCCTGCATTTGCCTTTGAAGCCACACATTTCAACATTCTCACCTATTAATATTATTACTAGAGTCTATTTAAATCTCTTAAACCATAATTTATAATATGAGATTTCACAAGATACACTTGTGGCTCTGAGTTATTTCAAAACTGATATTTCTGTGCATTCTGACATTTTATTCCTTTTAGAAACAAATTCAGTTGGCTGTAGAATTAATATCGTTCTGCTTAACAACTTTGTGCATGACATATTAACTGATTTTGTTGTATTTCATGATTTAAAAAAAAAAGCAGCAGCTCTGGAACTCAGATTCCTGGGGGTTCAGATTTTTTCTCAGTGGATCCTCACACAATACATCTTTATCTAAGTCCATACATGATCTGAGTTTATTTCTGATATAGCAGGAACCCAAATTCTCCTGAAAACGAACAGGGAAGAGAAAATAACAGTCTACTCTATACCAGCTTATCTTAATTCAGACTAATTGGTAGTTAGGGCATTGGAGGAATGGTGTGAATTCTTGAAAGTAGATTTTCGCTGTCTGCTGGAAAACTCTGCCTGAAATCCCCAAATCTGCCTCATGTAACAGCTTGACATCTTTGGTGGGAAACCTGCCATTTCTTATTCATAGTGTCTCCAGGCAACCAAGACAAAAATGTA
|
Task1_train_13101
|
With a mutation on Chromosome 9 in gene SHOC1 (shortage in chiasmata 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Spermatogenic failure 75
|
TTTGTATTTACTACTCTATCTCCCACTGTTGAAAGTTTGAGAATATATCTGTCCATATATTTTTCATGCCAAAGTTGGAGTCAACCTAAATGTTCATTAGTGAGAGAATGATTAAATATATTATGGCAGATTATATTATGCAGCTGCTAAGAAGAATATGTATTCAGTAGTGCTGCTATAATATGACACAGGCATTCCTAAAAATCACCAAGTTATATCAAATCACACAATAACCACCACAGGGCCTATGGGAAAATGGAGTTGGGACTTAATATTAAAAAATTTTGCCAGTGACAGTAAAAAAGACAGAAACCTAATGAAAATGATAGCACAGTTTTAAACATGTTAAATGATTAAGGAATACACAAATACTATAATACATATGGCTCCTTACCTTGAAAAATACTCAAAGTTTGCTCTTGAGCCTGTAGGCCCCACTGTCCCACTGGCCAGCCCTGCCTAGCGACCATGGCCGGTACCCTTTCTGCTCAAGGAAAAGAACAAAAGAGAGATAGAAAAAGAGTGAGAGAATAAATAGAGAAAAATGGCAGAGACCTGAGAGGAAAGTAGAGAACAATTAAAGAAAGGGGAAGGTAGGAAGCTGCTTAGCCAAGTTGCAACTGGCGAGTTACTGTGAGATGGTAGCAGGTGGACTATCTAGCCAAAAGTTGAGACACCAAATGTGGCATTAGCTACATTGTGTGGCTCAATGACCCTGTGAACTGTGGTGTGTATGTGTGTTTTGTGTATTCCTATGCAGCTTATTTCAGTTGGGTGTCATTTTTTAGTTCACCTAGTGTTTCTTGTGAACAAAATTGCATATAAGAATGTGAAATTCATCTTATGCCCACATTGTTCCCTGATATGGTGATTATTTTGGAAAATTTTTGAATTTTCAAAGGTCTATTTTTAAAAAACAGAAATGGAGTTGTGCAACATATAATATTTTATATATTGTTTTTCCCTTTTTTTTTACTTTATGTTATGGGCATCCTGCCTTGTCAGAGCACACGGACTTACTTTCTTCTAATGGTTTCATGATATTCTACAGTCTAAGTTGTTGATCTATTCCCCTACTGCTAGCATTTTTATTGTCTATAATTTTTAACTATTACAAATTATATGGCATTTCATTGTGTAATTGGATATTTCTTTAAGACAGATTCCTGGAAATGTGGTTGTTGAGTCAAAAGATAGGAGCATTTTTCCTCTTAGTGGGTTTACACAAACTGCACTAAAGAAGCTGTACAAACAATATAGGAAAGTGTTCTTTTCTTCAATATGTAGAAATTGGATAGTGTGAATTTTCAAAAATGTTGGCACCTGATAGGTGAAAAAACAGTAACATTGTTTTAATTTGCATTTGTCTAATAAGTAATGAAGCTTCATTGTGTTTCAAATGTTTATTGACAATTTTTGTTTTTTTCTGAGGAAATATCTGTTCATATATTTTGCCCGTTCTTCTATCAGGTTGTCTTCTTTCTATCAATTTGTAGGAATTCTTTATATATGAGAAATGTAAACTTTTTTTCCTATTATCTGGGTTGCAAATATTTCCTCTTAGTAATTTGTTCTTAAATTGTGTTTACAGAAAATGATACTTTAAGTTGGAAGTTTTCTAACTTCAATTTTGTCCTAGGTTTTAACTTTCTTGATGTGGGAGGGTTAACTGTGATGATCTTCACTTCCTGACTCAAAGGGTCAGACTGTGATGGAGACTCATTTAAATGGCCTGTGTGCAGGGGTGTCTGGAAGACATTTTGGATCTTATGATAATTATTCTGCTAATTGATAAATTAGAATATTTAACTTACAAAGATGCAAACCATAGGGCAGAATACATATTATGAATATTTAATACAGAAATACTGAGACATATATGAACAATTGTGTTTTCTTTAGTGTATGAGCAAATCTAAATAATTGCGCTAGTGGATTAGCATCAAAAACAGTGGAATATGGCATGTAACATTGCTCTTCTCCTCCTTCAAAAAAACCTCAGCCGAGTCTGCCCATCAACTCTACCAGGGACTTTTTCATATGCTAGACGTCGTTTTTTGAATTGTGGTAGTTGTGAGCACATAAAACCTGTTAAAAGGAGAAAAAGGAAAACCATTTTATTGCTTACAATAGTAAAGTATAGGTTTTTTCTTTTCCTTTTTTTTTTTTTTTTCTTTTTTGAGATGAAGTTTTGCCCTTGTCGCCCAGGCTGGAGTGTAGTGGCGCAATCTCGGCTCACTTGCAACATCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGGCAGGCTAGTCTCAAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCTGAAGTATAGGTATGTTTTCCTCACTATTCAAACGGATTTTGTGTCTTCATCATCTACCTAAAAAGTGTCAAAATTTCCAAACTGGGATAAAATAATAACTATTAAAAAGTATGTTTTTAACATAAATGCCTCTGTACCTAATGGCCCGGTATTAAAAATTAGTGATAAATGCATATATTTTTATGCTCATGCCTTGTACAAATACTTAAATCTCCCTTGGTTTCAATTTTCTCTTCTGTGAAATGAAAAGTTATAATTCATAATCTCTAAATTCTCTTCTAACATTTTTAAGTAAAAACAACCCAAAATGGTTTGGGAAGCACCTCAGGCCGGGCTTCCTAATTCTTGAAAGTTTCCAATAAGTCCTCATTAATTAGGATATAAGTTAGAGGCTCATTTTGACAGACTTTGAACCTAAAACAAAGACATATTGCCTGGTTTCCGTGTACCTTGTATCCATCTTTGTGGTGAGAGTGTATACAATTCTGTCCGGTTTTTCTTCTTCTTCTTTTTTTTTTTCTTTTTTCTTTTCCAGTTTGCCCTTCCTATTCCTGACTGTGGCTTTTTTTCACTTGGGCTAATTTTCTTCTCATGAACATACACCCTTTAGGGGGATATCATTTTCACTAAGGACATATTTCGTTTCAGGGAGAGGTTATGTGTTTAGGAATCTATCTGTAAATTCATGTCTTTAAAGGCATGTCTGGAAAACAAATCTTTAACTCCAATTAAGGAGCTAAAGAATCCTTAAGTAAACAATTAGATGAAATACAGGGAATATTAATGACGACAGGACCTTGGTTCTTCACTGTAAAGCTGTGGGAGAGCCTGGACTACCAGTAGCATTCTGGTAAACGTTTAACAACCAGCTCTCGAAACAAGGAAAGGCCTGGTTTGTAGCATCTGCAAATTTTTGTGGTATGAAGACACCCACCATGGCTGATTTTAAGCTACCAATGTGATAGAAACAATGTTTTTTTCTGGATATCAATCTCTCACAGCCAATTCTAAAATTTCTAAAAATGCTTAAATTTCTTTTTCTATAGCTGCCAGGAAGCTTTCCCATGAAATAAATGTATATTTTGCACCTATTTAATAACTCCAATTTATTATCCATATATTATTTATATATGGATATCCATATATAGTTATCCCTATATTAGTATCCACATGTGCAATTATAAAGCACATACAAATTTCCAGTTAACCAATACAAAGTGTCCCAAGTACATTCACAGATGAAAACAGTTTTGAAGAGATTACCAGCATTTTGGACATTATGAGCAAAATTCACTATATCCTTGCCAAGTCAGATAAAGAATCATCATTAATAAGTGGAAGGAGTAAATAATAAACTGATAACAATGCAGTTGTCAGAAATAACAAAAGTTCAAAAAAACCAACAACATGAGAAAAACCCCACTCTTGGCTCAAAGAAAAAATTTATAATAGATCAATTAAGAAAAAAATAAAAATTAAAATACCATATTTAAAAATGGTATTAGTAGCTCATATTCAGCTTCCATTCTAGAGTCTTTAACATGCCATTTTCAATACTCTTGCTTTTAAGTTTTCCCTCATAGCTTGATCCTTGACCCACAGCTGTAATGTGAAATTTATTCTGAGCCCTG
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TTTGTATTTACTACTCTATCTCCCACTGTTGAAAGTTTGAGAATATATCTGTCCATATATTTTTCATGCCAAAGTTGGAGTCAACCTAAATGTTCATTAGTGAGAGAATGATTAAATATATTATGGCAGATTATATTATGCAGCTGCTAAGAAGAATATGTATTCAGTAGTGCTGCTATAATATGACACAGGCATTCCTAAAAATCACCAAGTTATATCAAATCACACAATAACCACCACAGGGCCTATGGGAAAATGGAGTTGGGACTTAATATTAAAAAATTTTGCCAGTGACAGTAAAAAAGACAGAAACCTAATGAAAATGATAGCACAGTTTTAAACATGTTAAATGATTAAGGAATACACAAATACTATAATACATATGGCTCCTTACCTTGAAAAATACTCAAAGTTTGCTCTTGAGCCTGTAGGCCCCACTGTCCCACTGGCCAGCCCTGCCTAGCGACCATGGCCGGTACCCTTTCTGCTCAAGGAAAAGAACAAAAGAGAGATAGAAAAAGAGTGAGAGAATAAATAGAGAAAAATGGCAGAGACCTGAGAGGAAAGTAGAGAACAATTAAAGAAAGGGGAAGGTAGGAAGCTGCTTAGCCAAGTTGCAACTGGCGAGTTACTGTGAGATGGTAGCAGGTGGACTATCTAGCCAAAAGTTGAGACACCAAATGTGGCATTAGCTACATTGTGTGGCTCAATGACCCTGTGAACTGTGGTGTGTATGTGTGTTTTGTGTATTCCTATGCAGCTTATTTCAGTTGGGTGTCATTTTTTAGTTCACCTAGTGTTTCTTGTGAACAAAATTGCATATAAGAATGTGAAATTCATCTTATGCCCACATTGTTCCCTGATATGGTGATTATTTTGGAAAATTTTTGAATTTTCAAAGGTCTATTTTTAAAAAACAGAAATGGAGTTGTGCAACATATAATATTTTATATATTGTTTTTCCCTTTTTTTTTACTTTATGTTATGGGCATCCTGCCTTGTCAGAGCACACGGACTTACTTTCTTCTAATGGTTTCATGATATTCTACAGTCTAAGTTGTTGATCTATTCCCCTACTGCTAGCATTTTTATTGTCTATAATTTTTAACTATTACAAATTATATGGCATTTCATTGTGTAATTGGATATTTCTTTAAGACAGATTCCTGGAAATGTGGTTGTTGAGTCAAAAGATAGGAGCATTTTTCCTCTTAGTGGGTTTACACAAACTGCACTAAAGAAGCTGTACAAACAATATAGGAAAGTGTTCTTTTCTTCAATATGTAGAAATTGGATAGTGTGAATTTTCAAAAATGTTGGCACCTGATAGGTGAAAAAACAGTAACATTGTTTTAATTTGCATTTGTCTAATAAGTAATGAAGCTTCATTGTGTTTCAAATGTTTATTGACAATTTTTGTTTTTTTCTGAGGAAATATCTGTTCATATATTTTGCCCGTTCTTCTATCAGGTTGTCTTCTTTCTATCAATTTGTAGGAATTCTTTATATATGAGAAATGTAAACTTTTTTTCCTATTATCTGGGTTGCAAATATTTCCTCTTAGTAATTTGTTCTTAAATTGTGTTTACAGAAAATGATACTTTAAGTTGGAAGTTTTCTAACTTCAATTTTGTCCTAGGTTTTAACTTTCTTGATGTGGGAGGGTTAACTGTGATGATCTTCACTTCCTGACTCAAAGGGTCAGACTGTGATGGAGACTCATTTAAATGGCCTGTGTGCAGGGGTGTCTGGAAGACATTTTGGATCTTATGATAATTATTCTGCTAATTGATAAATTAGAATATTTAACTTACAAAGATGCAAACCATAGGGCAGAATACATATTATGAATATTTAATACAGAAATACTGAGACATATATGAACAATTGTGTTTTCTTTAGTGTATGAGCAAATCTAAATAATTGCGCTAGTGGATTAGCATCAAAAACAGTGGAATATGGCATGTAACATTGCTCTTCTCCTCCTTCAAAAAAACCTCAGCCGAGTCTGCCCATCAACTCTACCAGGGACTTTTTCATATGCTAGATGTCGTTTTTTGAATTGTGGTAGTTGTGAGCACATAAAACCTGTTAAAAGGAGAAAAAGGAAAACCATTTTATTGCTTACAATAGTAAAGTATAGGTTTTTTCTTTTCCTTTTTTTTTTTTTTTTCTTTTTTGAGATGAAGTTTTGCCCTTGTCGCCCAGGCTGGAGTGTAGTGGCGCAATCTCGGCTCACTTGCAACATCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGGCAGGCTAGTCTCAAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCTGAAGTATAGGTATGTTTTCCTCACTATTCAAACGGATTTTGTGTCTTCATCATCTACCTAAAAAGTGTCAAAATTTCCAAACTGGGATAAAATAATAACTATTAAAAAGTATGTTTTTAACATAAATGCCTCTGTACCTAATGGCCCGGTATTAAAAATTAGTGATAAATGCATATATTTTTATGCTCATGCCTTGTACAAATACTTAAATCTCCCTTGGTTTCAATTTTCTCTTCTGTGAAATGAAAAGTTATAATTCATAATCTCTAAATTCTCTTCTAACATTTTTAAGTAAAAACAACCCAAAATGGTTTGGGAAGCACCTCAGGCCGGGCTTCCTAATTCTTGAAAGTTTCCAATAAGTCCTCATTAATTAGGATATAAGTTAGAGGCTCATTTTGACAGACTTTGAACCTAAAACAAAGACATATTGCCTGGTTTCCGTGTACCTTGTATCCATCTTTGTGGTGAGAGTGTATACAATTCTGTCCGGTTTTTCTTCTTCTTCTTTTTTTTTTTCTTTTTTCTTTTCCAGTTTGCCCTTCCTATTCCTGACTGTGGCTTTTTTTCACTTGGGCTAATTTTCTTCTCATGAACATACACCCTTTAGGGGGATATCATTTTCACTAAGGACATATTTCGTTTCAGGGAGAGGTTATGTGTTTAGGAATCTATCTGTAAATTCATGTCTTTAAAGGCATGTCTGGAAAACAAATCTTTAACTCCAATTAAGGAGCTAAAGAATCCTTAAGTAAACAATTAGATGAAATACAGGGAATATTAATGACGACAGGACCTTGGTTCTTCACTGTAAAGCTGTGGGAGAGCCTGGACTACCAGTAGCATTCTGGTAAACGTTTAACAACCAGCTCTCGAAACAAGGAAAGGCCTGGTTTGTAGCATCTGCAAATTTTTGTGGTATGAAGACACCCACCATGGCTGATTTTAAGCTACCAATGTGATAGAAACAATGTTTTTTTCTGGATATCAATCTCTCACAGCCAATTCTAAAATTTCTAAAAATGCTTAAATTTCTTTTTCTATAGCTGCCAGGAAGCTTTCCCATGAAATAAATGTATATTTTGCACCTATTTAATAACTCCAATTTATTATCCATATATTATTTATATATGGATATCCATATATAGTTATCCCTATATTAGTATCCACATGTGCAATTATAAAGCACATACAAATTTCCAGTTAACCAATACAAAGTGTCCCAAGTACATTCACAGATGAAAACAGTTTTGAAGAGATTACCAGCATTTTGGACATTATGAGCAAAATTCACTATATCCTTGCCAAGTCAGATAAAGAATCATCATTAATAAGTGGAAGGAGTAAATAATAAACTGATAACAATGCAGTTGTCAGAAATAACAAAAGTTCAAAAAAACCAACAACATGAGAAAAACCCCACTCTTGGCTCAAAGAAAAAATTTATAATAGATCAATTAAGAAAAAAATAAAAATTAAAATACCATATTTAAAAATGGTATTAGTAGCTCATATTCAGCTTCCATTCTAGAGTCTTTAACATGCCATTTTCAATACTCTTGCTTTTAAGTTTTCCCTCATAGCTTGATCCTTGACCCACAGCTGTAATGTGAAATTTATTCTGAGCCCTG
|
Task1_train_13102
|
Here is a genetic alteration in SHOC1 (shortage in chiasmata 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Spermatogenic failure 75
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TAAATAGTAATGCCAAAGTATGATTTAGTAACTGCATGTCTTAGAGGAACAGAAAGAATTCAGTCCAAGTATAAAGCTCTCAGTGGTCTCACTTAACTAGGGTAAATTATAGACTACACTACTTAAAGATAAATATTGTTTAAGCCAACCTCCATAAATATTATTTCTTTCTTTTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTTGGCTCACTGCAGCCTGTGCCTCGCGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCAGGCTAATTTTTGAATTTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGCACCCAGCCCATGAATATTATTTATTTAATCCAAGGCTTTGGTAAGTATTGAGCATACTGTACTTGTCTAGATTATGCACTTGGCCAAGTATTATTACTAAACTACAGCTATCTTTAGAAAGCCCAACATGGTGCTATTCTTTTCTTCTTCAATTAAACCACTTGAATGTTGATACTGGACCAGGTTGTCTTGTCTCCATCCTCAGACAAGTAAGGATTGGGGGCTAAGAACCCTACTTTACAGTACCTAAACAAGCATAAGTGTGTAGTGTCACATGCCCTTTTATTTAGTCACCTGACTTCATTGTGCTTCTCAGCTTCTATAATAGATTGCTAGCTCTACAAACAGTGAGATTGGTTATTACTCATGATATTAAAACAGAATTTCAGAATCTAGAATATCTGAGGTCCCACTGCTTTAGAGGGAGTACATTTATGATTCACTGCTGTTCAATATTTACCAAAACTTTGGATTAGAAAAATAATATTTATGTCTGGATCATAAATAAGAGAAAATGTCTGGGTCTTAGATCAGAGGAAATTTATTTTTACTTTATGTTTGAAATAGGTTCTAGGAACTCTAAATTATAAAACATAATTCCATAAACATACCATTGTTAAACAAGTCTAGGCTGGGTGTGGTGGCTCACACTTGTAATCTCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAACAGCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATTCCAGCTTCCTGGGGGGCTGAGGCAGGAGAATGGCATGAAGCCAGGAGGCAGAGGTTGCAGGTTGCAGTGAGATCACACCTCTGCACACCTACCTGGGCAACAAAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAGTCTAAATAATCTTGCAATAAGGGGCCTAAAGCAGTAATGTAGTAAGACAGACATTTTAATTTGATAGGTTATAAAAAATTCCAAAATCTTAGAAATTCCAATATGTTCAAAATAGTTTGATTTTATTACCCAAGTAATTCATATACTAATATAGACATGACTAAAAAAGAAATTGGAAAAGATCTTACTCCTTATAGTTATATTTTACATAGCAAAGACTCAAAGCCACAAAAATGCAATGAGGACCCAAAATGTTTATGACAAAATGTCAAATCTCACATTAAAAAGTCATGCATGATAATGATTATACAATCAAATCTGCTAGATTAGAGAATCCTAAACCTATTTTTCTAGGTGATGACAGTGTTAAGGACAATTTCTTTTAATGAATACAAGCAGAATAAAATGTATATATTTCATTAGAATTATGTCAAAATGTATGTAATGCTTAGTATAATAGAAAAGAAGGCTACATCATTTCTTATAAGGTGTATCTTTTTCAGAAAAGTAAGTTATTTCAGATGAAATATTTAATAGGAAGAAAAGAGGAAATAAAATATTCCCCACCAACCCAATGCTGTGTCCAAGCTGCATGTTAAAAGGACATCTCTAATTGTTACCAGAAGATGTAAGAGAGCGGCATGCTTGAAAGTCATTTCTCTTTCATCAATTGTACCTAAGTAAGCAAAAATGTATTTTAAAACATAGACTATACATTACAGTTTTAGAATATGTATCAGAATCTGCCTAATAATGGGAGCTAACATTTATTATTGAGTGCTTACTATATGCCAGGCTGTATATAAGCTGGCTATTTCATTGAATCTATAACAACAATCCCATCAGACAAGTTTATTATGATCCAAATTTTATGAATGAGGAAATAGTATTAATGAAGTTAAGTAACTGTCCAAGGTCAGTGAGTGAGTAAATGGTAGAGCTGTCATTTAAACTCAGCTAACCTGAGAATTCATGCCCTTGTTGCTTCCAAAGAATATTCAGCTATTTCTACTGCTATTGGGAAAAAGAGTCAACGCTTCCCAGTTATGAAACAAGAATAAAAATAGATTCATAACTTGCCAACTGATTAAGATAAAAGTAGAGGATCATAACATGAAGAAATACCTTGAAATGGAGGTAGACACCTAGGAATATTTATTCAAAGGTATAACTCAAACAAGAGATAAACTCACAGGGACAGCCTTATTGCCTAATTGTGTTCCATTTAGTTCCAGAGCTTTTTTGGACGATAGACTGGATTTTTCTGCATATAAAAGTGAGACCAAGAAGATGGGATTCTAGACCCCCTGCCCCAATTTAACCAGAGAAGCTCTACTTTTCTTTTTCATATATTGAGATCTCATGAAATTTATTTGAACAAAGAATTCTGCTAAAAAGTTTGCAAATTGATGATCTATTCAATGAAGATCAAGGCAAATATGTAGTAGGGAATTAAGAGGGAAAGCCAATTATGGGTAGTATATTCAGCCCCTAGAAGGACTTGTGGGAACAAGTCAATCATGACCTGCAAGAGATGAGAATAGGGCAGAGAAAACATATTTGGGGAACTGGAAATGTAAAAATGCTTGGAAAATGGAGTACAGACTAGGAAACTAGTGTGGGAAATGGTCTGACTTCTTTTAATCTAGGTTTACTTAATTGTTACTTGTAGGCTTAGTTTTATCTCAACTCTGGGGCCAATGAAAGAATATTAAGTATAACAACTATTCACTTGCTCGGGATTAATGCAATATTGTTCCAACTGGATACCCAAAACCATGTCCCTTTTTTGTCCTCTATTATACTTCATACATAGTTATGCTGTATATTTTATAATAATCATCATTCTGCTCAATGATGTTCAAAACCTTTAGAAGCTCAACCCATATTCAGCTAATTTAAAACCTGAGAATTACAGGACTGAAACTATATCCAGAAGACATGAGTTTTTATTTTATATAAGTCTTGTCTTCTTTCATAAAGGCCAGTTTGCTGACAATTGTTCTTTTCTATCCAGTATAATCATTACCAGAATGCCAGCTCCCCAAAGTGTTGATCTTGATGCCTTTCTGTGGCTCAGGTATTTCAAGTAGTAAACTATGGATTAACACCTTCCTCTCAGATCAGGTATTCTATCTCAGTACTACTACTGTGACCTCGCGGTTTTGGTGACTAAAATGTTGCTCCCCTCAAAGACTGGGCACTCTACATGGAAGAAGATGAGATTCAACTTGTTTTTCATTTGTAAAAGAGAGTTAACCTTTAAAAAATATATAGGACATCTAAGTTTAATGAATTTAGAAAACAGACTTTAAAAATAAATTAAGTAGATTCCAGGTAAGATGGAGTAAGTACACTCCACCCTGTCTCTTCCACTGAATACAACTATAAACACAAAACAGAATACATGAAACAGCTATCTGAAAACTCTAAAAGGTAAATGGTAGCAAGTGGACTGGGGAAGGAGACCAGATTTCAAAATGCCACCAAACAAGTGGTGAGTTTCCTATTTTTTCCGCTTCTTGTATTTACTGGCTTAGACTAAAACAGCCCAAGGCCCAGAAGTGATTACCACCATGTGGACAGAAAGAGCTCTAAGAGAAGTCCTCATTTTGTCTAATATAGAAAACTAGGTTGATGTGTTTTGCTTTCAGCATTTTCAAAATGTTACTCATTGTCTTTGCA
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TAAATAGTAATGCCAAAGTATGATTTAGTAACTGCATGTCTTAGAGGAACAGAAAGAATTCAGTCCAAGTATAAAGCTCTCAGTGGTCTCACTTAACTAGGGTAAATTATAGACTACACTACTTAAAGATAAATATTGTTTAAGCCAACCTCCATAAATATTATTTCTTTCTTTTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTTGGCTCACTGCAGCCTGTGCCTCGCGGGTTCAAGTGATCCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCAGGCTAATTTTTGAATTTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGCACCCAGCCCATGAATATTATTTATTTAATCCAAGGCTTTGGTAAGTATTGAGCATACTGTACTTGTCTAGATTATGCACTTGGCCAAGTATTATTACTAAACTACAGCTATCTTTAGAAAGCCCAACATGGTGCTATTCTTTTCTTCTTCAATTAAACCACTTGAATGTTGATACTGGACCAGGTTGTCTTGTCTCCATCCTCAGACAAGTAAGGATTGGGGGCTAAGAACCCTACTTTACAGTACCTAAACAAGCATAAGTGTGTAGTGTCACATGCCCTTTTATTTAGTCACCTGACTTCATTGTGCTTCTCAGCTTCTATAATAGATTGCTAGCTCTACAAACAGTGAGATTGGTTATTACTCATGATATTAAAACAGAATTTCAGAATCTAGAATATCTGAGGTCCCACTGCTTTAGAGGGAGTACATTTATGATTCACTGCTGTTCAATATTTACCAAAACTTTGGATTAGAAAAATAATATTTATGTCTGGATCATAAATAAGAGAAAATGTCTGGGTCTTAGATCAGAGGAAATTTATTTTTACTTTATGTTTGAAATAGGTTCTAGGAACTCTAAATTATAAAACATAATTCCATAAACATACCATTGTTAAACAAGTCTAGGCTGGGTGTGGTGGCTCACACTTGTAATCTCAGCCCTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAACAGCAGCCTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATTCCAGCTTCCTGGGGGGCTGAGGCAGGAGAATGGCATGAAGCCAGGAGGCAGAGGTTGCAGGTTGCAGTGAGATCACACCTCTGCACACCTACCTGGGCAACAAAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAGTCTAAATAATCTTGCAATAAGGGGCCTAAAGCAGTAATGTAGTAAGACAGACATTTTAATTTGATAGGTTATAAAAAATTCCAAAATCTTAGAAATTCCAATATGTTCAAAATAGTTTGATTTTATTACCCAAGTAATTCATATACTAATATAGACATGACTAAAAAAGAAATTGGAAAAGATCTTACTCCTTATAGTTATATTTTACATAGCAAAGACTCAAAGCCACAAAAATGCAATGAGGACCCAAAATGTTTATGACAAAATGTCAAATCTCACATTAAAAAGTCATGCATGATAATGATTATACAATCAAATCTGCTAGATTAGAGAATCCTAAACCTATTTTTCTAGGTGATGACAGTGTTAAGGACAATTTCTTTTAATGAATACAAGCAGAATAAAATGTATATATTTCATTAGAATTATGTCAAAATGTATGTAATGCTTAGTATAATAGAAAAGAAGGCTACATCATTTCTTATAAGGTGTATCTTTTTCAGAAAAGTAAGTTATTTCAGATGAAATATTTAATAGGAAGAAAAGAGGAAATAAAATATTCCCCACCAACCCAATGCTGTGTCCAAGCTGCATGTTAAAAGGACATCTCTAATTGTTACCAGAAGATGTAAGAGAGTGGCATGCTTGAAAGTCATTTCTCTTTCATCAATTGTACCTAAGTAAGCAAAAATGTATTTTAAAACATAGACTATACATTACAGTTTTAGAATATGTATCAGAATCTGCCTAATAATGGGAGCTAACATTTATTATTGAGTGCTTACTATATGCCAGGCTGTATATAAGCTGGCTATTTCATTGAATCTATAACAACAATCCCATCAGACAAGTTTATTATGATCCAAATTTTATGAATGAGGAAATAGTATTAATGAAGTTAAGTAACTGTCCAAGGTCAGTGAGTGAGTAAATGGTAGAGCTGTCATTTAAACTCAGCTAACCTGAGAATTCATGCCCTTGTTGCTTCCAAAGAATATTCAGCTATTTCTACTGCTATTGGGAAAAAGAGTCAACGCTTCCCAGTTATGAAACAAGAATAAAAATAGATTCATAACTTGCCAACTGATTAAGATAAAAGTAGAGGATCATAACATGAAGAAATACCTTGAAATGGAGGTAGACACCTAGGAATATTTATTCAAAGGTATAACTCAAACAAGAGATAAACTCACAGGGACAGCCTTATTGCCTAATTGTGTTCCATTTAGTTCCAGAGCTTTTTTGGACGATAGACTGGATTTTTCTGCATATAAAAGTGAGACCAAGAAGATGGGATTCTAGACCCCCTGCCCCAATTTAACCAGAGAAGCTCTACTTTTCTTTTTCATATATTGAGATCTCATGAAATTTATTTGAACAAAGAATTCTGCTAAAAAGTTTGCAAATTGATGATCTATTCAATGAAGATCAAGGCAAATATGTAGTAGGGAATTAAGAGGGAAAGCCAATTATGGGTAGTATATTCAGCCCCTAGAAGGACTTGTGGGAACAAGTCAATCATGACCTGCAAGAGATGAGAATAGGGCAGAGAAAACATATTTGGGGAACTGGAAATGTAAAAATGCTTGGAAAATGGAGTACAGACTAGGAAACTAGTGTGGGAAATGGTCTGACTTCTTTTAATCTAGGTTTACTTAATTGTTACTTGTAGGCTTAGTTTTATCTCAACTCTGGGGCCAATGAAAGAATATTAAGTATAACAACTATTCACTTGCTCGGGATTAATGCAATATTGTTCCAACTGGATACCCAAAACCATGTCCCTTTTTTGTCCTCTATTATACTTCATACATAGTTATGCTGTATATTTTATAATAATCATCATTCTGCTCAATGATGTTCAAAACCTTTAGAAGCTCAACCCATATTCAGCTAATTTAAAACCTGAGAATTACAGGACTGAAACTATATCCAGAAGACATGAGTTTTTATTTTATATAAGTCTTGTCTTCTTTCATAAAGGCCAGTTTGCTGACAATTGTTCTTTTCTATCCAGTATAATCATTACCAGAATGCCAGCTCCCCAAAGTGTTGATCTTGATGCCTTTCTGTGGCTCAGGTATTTCAAGTAGTAAACTATGGATTAACACCTTCCTCTCAGATCAGGTATTCTATCTCAGTACTACTACTGTGACCTCGCGGTTTTGGTGACTAAAATGTTGCTCCCCTCAAAGACTGGGCACTCTACATGGAAGAAGATGAGATTCAACTTGTTTTTCATTTGTAAAAGAGAGTTAACCTTTAAAAAATATATAGGACATCTAAGTTTAATGAATTTAGAAAACAGACTTTAAAAATAAATTAAGTAGATTCCAGGTAAGATGGAGTAAGTACACTCCACCCTGTCTCTTCCACTGAATACAACTATAAACACAAAACAGAATACATGAAACAGCTATCTGAAAACTCTAAAAGGTAAATGGTAGCAAGTGGACTGGGGAAGGAGACCAGATTTCAAAATGCCACCAAACAAGTGGTGAGTTTCCTATTTTTTCCGCTTCTTGTATTTACTGGCTTAGACTAAAACAGCCCAAGGCCCAGAAGTGATTACCACCATGTGGACAGAAAGAGCTCTAAGAGAAGTCCTCATTTTGTCTAATATAGAAAACTAGGTTGATGTGTTTTGCTTTCAGCATTTTCAAAATGTTACTCATTGTCTTTGCA
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Task1_train_13103
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A change on Chromosome 9 affects gene SLC31A1 (solute carrier family 31 member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Neurodegeneration and seizures due to copper transport defect
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GGCATTCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCCGAGATCTCGCCACTGCATTCCAGCCTGGGCTACAGAGCGAGAATCCGTATCAAAAAAAAAAAAAAAAAAGATAAAAGTTGATGGTGGGGGCCCAGGAGAAAAGTTGATGGTGGGGGCCTAGTAGAATACTCATGCTCGGTGCCTGTGGTGGTAACGCTAACATGAGGGCAAAAGCCTCCCACTCACGTGAATGTCTCTTATTATCCAGATCTTCTACTTTTAAATGTTCTAAGCTTCTTTGCCCCAAATTCTCATTTAGAATTTTCATTCATCTCTAACTGACTTGTTTTGGTTTTCTGGCAGCCTATGACCTTCTACTTTGGCTTTAAGAATGTGGAACTACTGTTTTCCGGTTTGGTGATCAATACAGCTGGAGGTGAGTAAGCCATTAGGTAGTGTTGGAAGGTGATAGTCACATGAGAGACAGTGACAAATAATTTGGAAGTCCAGCACCTCTTTCTGTCCTAATTACTAAGTCAACATGGTAATGATGCATAACCATCTTGGTTCCTATTTCCTACCTAGAAGGTAGGAAACACAGTACTTTTTTGGTCCTCTGGTAAACCTCTGTTAACTAACATGTATGTTTTGGAGCTCTAAAAAATAATTTAGATACCAGATAGAATCTTTTGCAATCCATTTTCTTTCATTCTTTTCCAGAGTGTTTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCAGCTATCTTGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGTTAAACAGGCACCTACCGCCATGCCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTTGCCATGTTTGCCAGGCTGGTCTCGAACTCCTCACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTCAGAGTGTTTACTTATTTGATAAGTTATTAGTCCTGGACATAAGACTAACTCAAATTAAGTACCACAAAATAAGTTTAAAACTATTGTTCTAATACTTCAATTTTACAATAAATTAAGTGCCACAAATTGTGAAATGACTCGCCATCAATCATAGAGTTAATATGTCAGAGCTAGGACAAGGACCCAGACCTTCTAGAGCTACCTAGACCAGTGTTCTTTTAGTCTACCAAACTATGGCCCACATCCTTCCTGATTCTTGGCACGGCCCATCTTAGACACTCCTAGTTTTGAGGTAGATGATTACCCATCTGTTTGTGTCTATTATGTTGTATGGTATACTTTAAATTTAACTTGCGCAAACTCAATAGTCAGTTGGACTGCCTTAGGTACCAGATGTCTGTTTGGAGCCATAAAATCAATTTGTTTTGGGAAGAAGGAGAGCATTTAGTTCAGGTAATGTGTTAAATTAGCAGTTTGAATACATTTATATCATTACCAACACTTCACAGTGTGAAAGACTTAGAATTGAAATGCCTATTCAGGAAATGTAGTCAGCCACTGATGAAACTAAATTGTTTTATTCCCTGTTCCATATTCTACATTGTGTGTTTCAGTGTAACAAACCTAATTTAATGATATCAAGCAGTCTGACCAAAAGGTTATTGTTGTTCTGATTATTTTTCTTATCTTAATCAGAAAGTAAATATGTTCTTGGCAGAGGCAATAGTTTTCAGTTACACCATCTTAGCCGTTCTCCTATCTGAGCAAGAGAAGAGGTAAAAATATAATGTCTTCAAAAGCTGAGAGTAGCATTTTTTCTATGTGTCTTTCTAGCTGGACAGCACATTGGCTAATGATTTTGCACATGTTTGACAGTACCTCCATATTTTCCTTCCATACTTAGAAATGGCTGGAGCTTTTGTGGCAGTGTTTTTACTAGCAATGTTCTATGAAGGACTCAAGATAGCCCGAGAGAGCCTGCTGCGTAAGTCACAAGTCAGCATTCGCTACAATTCCATGCCTGTCCCAGGACCAAATGGAACCATCCTTATGGAGACACACAAAACTGTTGGGTAAGAACTGAACAGATCCAGATGAAGTCCTAAAGAACTCGATCAGTTAAGCAGCAAAGCGCAGCTGTGTGATCAGCAGCAGCCCTCTTCTTGAGTTAGGAGTTCTGTATGACCTTGATCAAAACTGTCCTTGGAGGTTTGGGTTTGTAGGTCATGAGCAGGCCAAAGGAGGAATGAGAGGGAGTCTTCTGCAAATATGAATGTTTGTTCTGAGTTGTACGGATTGGCCACTTTGGAAGAAGGGAAGTGAGGAATCCATATTTTAAAATATTTACCAAAATAATAATGAACAAGTTAAGAAATTCAGATCAAGATATAAAAGAATGGCAGATTGCAGTTGATTCTATAAAGTTACACCTAGTCAGCCCTGTCCTCTTTTTCTTTACAATGTAAGACTGTATTGATTTCTGTGTTCTGTCTAAGAAAGTATTTGGATGATTATTGGTTTTTCCCATAGATTGGCAAATGTTTTTTGAGATTGTTTTAATAAAAATGTAAGTCTTAAAACCAAATTGGACCTTAAGAAATCCTATAGACTGATATCCTGCTTTCAAACAAGCAGTGTTATTTATTGTACTGATGAGCTTACTGGGGCCCAGAAGGATTGTGACCTACCTAAGGTGGCACAGGGGATGAGTAGCCAGGTCTCCTTATCCCTAATTAAGTAATTTCTTCTATACTACCCAACCCTCAATTCTATTTTTTTTTCTTTTTTTCTTTCTTTTTTTTTTTTTTTTCTGGAGACAGGGTCTCCCTCTATTGCCCAGGCTGAAGTGCAGTGGCACTATCTTGGCTCACTGCAATCTCTGCCTTCCAGACTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGAACTACAGGCATGAGCCACCACACCCAGCTAATTTTTTTTATTTTTTGTAGAGACAAGGTTTCGCCATGTTGCCCAGGCTGGTCTGAAACTCCTGAGCTCAAGCAATCAGCCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCATTAGCCACCACCCCCAGCCTCTGTTTCTGTTTTTGTAGAATGTAAACTTTGCAAAGGTGGGAAGCCTAAAAATATTCGGGCAGATGAGCGTGAGAGGGTTTACGGCTTCCCTTTCAGGATCTAAGGTGGAGGTAAGTCGGGATTACTCCTCGTCCTTTTCTCCTCCTCCGGAAAAGGGTTCCTTCTACTGGAGGAACCACAGCCATATCTGGCCAATGTTTATAAGCCTGACAGCCCTGTGCTGTTTCATTTCCATGGACCAATCAAAGAACATTCAAGTACCCATGAGTTGCCAGAGTGGCTGTCCAGTTCCAGCTGAGCTCATGGCAAGAACTCTTCCCTCTTTCTCCTGATCTGCAGAACTCCTAGGAGTCCCTGATTGTTGTGTCCCTGTTTACTCTCCAGGCAACAGATGCTGAGCTTTCCTCACCTCCTGCAAACAGTGCTGCACATCATCCAGGTGGTCATAAGCTACTTCCTCATGCTCATCTTCATGACCTACAACGGGTACCTCTGCATTGCAGTAGCAGCAGGGGCCGGTACAGGATACTTCCTCTTCAGCTGGAAGAAGGCAGTGGTAGTGGATATCACAGAGCATTGCCATTGACATCAAACTCTATGGCGTGGCCTTATCGATTGCAGTGGGAAGTTGTTGAAGACTTGAAGACGTGATTCCTGCTCCAATCATCCCTTCTTGCTCCTCTTTGTGCACGTACACACACACACACACACACACACACACACACCCCTGCTCAACAGAGGTTTAGTTTACAGTCTCTGAACTAAAGTAGTAACCTCCCAAATTGTTTTTTCTAATAAGCTGAGATTCCCATTTCTCTTAAGGAGAAGCCACCCATGAGATGTCTTTTCCTTCTCCATCATCTTAGAGCCAAGTTATATGTTCTTGTCTAATCCATGTAGCTTTTTGTTCAATGACTTGATCATCTGCTTCCTTT
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GGCATTCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGTAGTGAGCCGAGATCTCGCCACTGCATTCCAGCCTGGGCTACAGAGCGAGAATCCGTATCAAAAAAAAAAAAAAAAAAGATAAAAGTTGATGGTGGGGGCCCAGGAGAAAAGTTGATGGTGGGGGCCTAGTAGAATACTCATGCTCGGTGCCTGTGGTGGTAACGCTAACATGAGGGCAAAAGCCTCCCACTCACGTGAATGTCTCTTATTATCCAGATCTTCTACTTTTAAATGTTCTAAGCTTCTTTGCCCCAAATTCTCATTTAGAATTTTCATTCATCTCTAACTGACTTGTTTTGGTTTTCTGGCAGCCTATGACCTTCTACTTTGGCTTTAAGAATGTGGAACTACTGTTTTCCGGTTTGGTGATCAATACAGCTGGAGGTGAGTAAGCCATTAGGTAGTGTTGGAAGGTGATAGTCACATGAGAGACAGTGACAAATAATTTGGAAGTCCAGCACCTCTTTCTGTCCTAATTACTAAGTCAACATGGTAATGATGCATAACCATCTTGGTTCCTATTTCCTACCTAGAAGGTAGGAAACACAGTACTTTTTTGGTCCTCTGGTAAACCTCTGTTAACTAACATGTATGTTTTGGAGCTCTAAAAAATAATTTAGATACCAGATAGAATCTTTTGCAATCCATTTTCTTTCATTCTTTTCCAGAGTGTTTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCAGCTATCTTGGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAGTTAAACAGGCACCTACCGCCATGCCTGGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTTGCCATGTTTGCCAGGCTGGTCTCGAACTCCTCACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTCAGAGTGTTTACTTATTTGATAAGTTATTAGTCCTGGACATAAGACTAACTCAAATTAAGTACCACAAAATAAGTTTAAAACTATTGTTCTAATACTTCAATTTTACAATAAATTAAGTGCCACAAATTGTGAAATGACTCGCCATCAATCATAGAGTTAATATGTCAGAGCTAGGACAAGGACCCAGACCTTCTAGAGCTACCTAGACCAGTGTTCTTTTAGTCTACCAAACTATGGCCCACATCCTTCCTGATTCTTGGCACGGCCCATCTTAGACACTCCTAGTTTTGAGGTAGATGATTACCCATCTGTTTGTGTCTATTATGTTGTATGGTATACTTTAAATTTAACTTGCGCAAACTCAATAGTCAGTTGGACTGCCTTAGGTACCAGATGTCTGTTTGGAGCCATAAAATCAATTTGTTTTGGGAAGAAGGAGAGCATTTAGTTCAGGTAATGTGTTAAATTAGCAGTTTGAATACATTTATATCATTACCAACACTTCACAGTGTGAAAGACTTAGAATTGAAATGCCTATTCAGGAAATGTAGTCAGCCACTGATGAAACTAAATTGTTTTATTCCCTGTTCCATATTCTACATTGTGTGTTTCAGTGTAACAAACCTAATTTAATGATATCAAGCAGTCTGACCAAAAGGTTATTGTTGTTCTGATTATTTTTCTTATCTTAATCAGAAAGTAAATATGTTCTTGGCAGAGGCAATAGTTTTCAGTTACACCATCTTAGCCGTTCTCCTATCTGAGCAAGAGAAGAGGTAAAAATATAATGTCTTCAAAAGCTGAGAGTAGCATTTTTTCTATGTGTCTTTCTAGCTGGACAGCACATTGGCTAATGATTTTGCACATGTTTGACAGTACCTCCATATTTTCCTTCCATACTTAGAAATGGCTGGAGCTTTTGTGGCAGTGTTTTTACTAGCAATGTTCTATGAAGGACTCAAGATAGCCCGAGAGAGCCTGCTGCATAAGTCACAAGTCAGCATTCGCTACAATTCCATGCCTGTCCCAGGACCAAATGGAACCATCCTTATGGAGACACACAAAACTGTTGGGTAAGAACTGAACAGATCCAGATGAAGTCCTAAAGAACTCGATCAGTTAAGCAGCAAAGCGCAGCTGTGTGATCAGCAGCAGCCCTCTTCTTGAGTTAGGAGTTCTGTATGACCTTGATCAAAACTGTCCTTGGAGGTTTGGGTTTGTAGGTCATGAGCAGGCCAAAGGAGGAATGAGAGGGAGTCTTCTGCAAATATGAATGTTTGTTCTGAGTTGTACGGATTGGCCACTTTGGAAGAAGGGAAGTGAGGAATCCATATTTTAAAATATTTACCAAAATAATAATGAACAAGTTAAGAAATTCAGATCAAGATATAAAAGAATGGCAGATTGCAGTTGATTCTATAAAGTTACACCTAGTCAGCCCTGTCCTCTTTTTCTTTACAATGTAAGACTGTATTGATTTCTGTGTTCTGTCTAAGAAAGTATTTGGATGATTATTGGTTTTTCCCATAGATTGGCAAATGTTTTTTGAGATTGTTTTAATAAAAATGTAAGTCTTAAAACCAAATTGGACCTTAAGAAATCCTATAGACTGATATCCTGCTTTCAAACAAGCAGTGTTATTTATTGTACTGATGAGCTTACTGGGGCCCAGAAGGATTGTGACCTACCTAAGGTGGCACAGGGGATGAGTAGCCAGGTCTCCTTATCCCTAATTAAGTAATTTCTTCTATACTACCCAACCCTCAATTCTATTTTTTTTTCTTTTTTTCTTTCTTTTTTTTTTTTTTTTCTGGAGACAGGGTCTCCCTCTATTGCCCAGGCTGAAGTGCAGTGGCACTATCTTGGCTCACTGCAATCTCTGCCTTCCAGACTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGAACTACAGGCATGAGCCACCACACCCAGCTAATTTTTTTTATTTTTTGTAGAGACAAGGTTTCGCCATGTTGCCCAGGCTGGTCTGAAACTCCTGAGCTCAAGCAATCAGCCCACCTCGGCCTCCCAAAGTGCTGGGATTAAAGGCATTAGCCACCACCCCCAGCCTCTGTTTCTGTTTTTGTAGAATGTAAACTTTGCAAAGGTGGGAAGCCTAAAAATATTCGGGCAGATGAGCGTGAGAGGGTTTACGGCTTCCCTTTCAGGATCTAAGGTGGAGGTAAGTCGGGATTACTCCTCGTCCTTTTCTCCTCCTCCGGAAAAGGGTTCCTTCTACTGGAGGAACCACAGCCATATCTGGCCAATGTTTATAAGCCTGACAGCCCTGTGCTGTTTCATTTCCATGGACCAATCAAAGAACATTCAAGTACCCATGAGTTGCCAGAGTGGCTGTCCAGTTCCAGCTGAGCTCATGGCAAGAACTCTTCCCTCTTTCTCCTGATCTGCAGAACTCCTAGGAGTCCCTGATTGTTGTGTCCCTGTTTACTCTCCAGGCAACAGATGCTGAGCTTTCCTCACCTCCTGCAAACAGTGCTGCACATCATCCAGGTGGTCATAAGCTACTTCCTCATGCTCATCTTCATGACCTACAACGGGTACCTCTGCATTGCAGTAGCAGCAGGGGCCGGTACAGGATACTTCCTCTTCAGCTGGAAGAAGGCAGTGGTAGTGGATATCACAGAGCATTGCCATTGACATCAAACTCTATGGCGTGGCCTTATCGATTGCAGTGGGAAGTTGTTGAAGACTTGAAGACGTGATTCCTGCTCCAATCATCCCTTCTTGCTCCTCTTTGTGCACGTACACACACACACACACACACACACACACACACCCCTGCTCAACAGAGGTTTAGTTTACAGTCTCTGAACTAAAGTAGTAACCTCCCAAATTGTTTTTTCTAATAAGCTGAGATTCCCATTTCTCTTAAGGAGAAGCCACCCATGAGATGTCTTTTCCTTCTCCATCATCTTAGAGCCAAGTTATATGTTCTTGTCTAATCCATGTAGCTTTTTGTTCAATGACTTGATCATCTGCTTCCTTT
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Task1_train_13104
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Given a variant located on Chromosome 9 and affecting ALAD (aminolevulinate dehydratase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Porphobilinogen synthase deficiency
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TTTACAAACTACAAATTTGATTGAGTCACTCTGAAAAGGTGAATGTGGCCCTTGACCTCTGCATGGTTTGGTCCTGGTCTGTCTCTCTCCACTCAGTTCAGGCCATCCTCTCAGTGCTCCAGACAAGCTAGCCTTGCATTCCTCCAGCTAGAAGGAGCCCCAGGGCCTTTGCACAACTCCTCCCTCTCCCTGGAATGCTCTTCCCCAATTGTCTTAGCTTGATGGCTCACCCTTCAGGTCTAGGCTCAAATGTCAGTCCTTCAGGGAAGTATTTTCTGATCCTTCAAAGAGGTCAGGTCCTGGTGACCTCCTTCAGAGCACCTGTCACCACATCACTGGTGCATGTCTGCCTCCTTCCCAACTACTGTTTCAAGAGAGGCCCCTTCCCTGTTGTTGTCTCAGACCCCTTCTTTCCTTCAAAGCACTTATCACAATTTGTAACTGCTTTATTTCTTTGTTTTCTTCTTAGCTGTCTCCCCAATTCTCTTTGTATAATTTCTATGAAGAGATAAGCTGAGGTCTGTCCTGCTGTATTCCCAGGACCCAGCACTGAACCTAGGAACAGAGCAGAGATTCTCAAAAAGTATCTCCTGAATAAAAAGTGTTTGTGGTGGTGGCACCTCTAGCAGTCAGGAACTCCCTCTTTGCCTCTGAGTTTTGATCCTCAGGCAGTATTTATGCTGGTTAATGAGTAATTCTTCTCTGGGTTTATGGTTCAGAGTAGAATAGGAGACCTCAGGCAGCCTGGCAACCTCTGGCCTCGTGGGAAATGCCTTCCAGTGGAATTGCGGCAAATTTCAACTCTAACCCAGGGATATCGATCTAGGCCTCATTCCCACACCCAGCTCTGCTGCCAGAAGCGTTCCAAGGCTTCTCAGGCCCCAAGATCCCACTGCTCTCTTCTTCCCCTAATGCTCCAAGACCCTCTCCCAGCCAGGCCCCAAAGGCTGTGCCCCCGACTCCAGGTTGCTTTCAAGCTGAAGCCACACCAGAGGAAAGAGCTGAGGGTGGCAAAGGTGGGCCTCACGGCTGACCCAGGGGAGGGGCGGGGAAGCTTGGGAGAGCTCATAGGATGCAGCTGCGAGTTACAAGAGTTAGCATGCTGGCAAAACCACCCAGGGCTGCTGGGCCCCGCTAGCATGTGAGCAGGAAGAGGGCATGAGGGCACAGTTCTAAAAGCAGCATTTACTTTGGTTTTCACTTGTCTGAGGCCCCGGGAACGTTTTAAAGTTCTAGTTCTTGGGCCTGGCACTGTCTCCATCATTCCTCCTTCAGCCACTGCAGCAGCTGCGGTGTGTAGTAGGTGATGATGATGTCAGCACCTGTGTTGGGAGAGATGCAGAAAGTTGCTGGGGGGACGCTGATCAGCTCTGAGCACACCTTCTGCGATGGGAAGGCCAGGCGGGGAAGAAGGCTACCATGAAGAAGCACAGCCTGTGGGCACACCACATGAGACGGAGCCCAGCTTTGGGAAACTCTATTTCTTGGGCAAGTCATTTCCTCTTTTGGGGCCTCAGTTTACCAAAGAATAAAATGCACAGTGAAGGAAATAGGTAAGAGGCAAGTTCCTTCCCATGCTGGTGTGCAATTCTAACAAAATGAGTCCCCTTTATGGAGTGATATTACTTCATTTAATCCTCAGGACAACCACGCACCAGGTATCTTATCCCCAGTTATCCAGTTATGGGTGAGGACACTGAGGTTCAGAGAAGTGGCTTGCCCACGTTCTCACAACCAAAAATGAAGGGCTCTGCTTGCTTCACCGGGCCGTGTTCTATGCTGCAGTTCCATATCTCTTCCTCAGTGTGTGTCTGTTTAGATCACTAGTAATTCCCGGAATAAGATCCCAAGCTCTCAGGACGTCGTTCCCCAATCTAGGCAGAGTGCTTATCAGTCCCTGTGGCGCAGGTCAAAACACCCCACCCTTGCCTGCCTACCTGCTCTGCGGAAGGCAGTCATGGCCTCCAGTACGGCAGCCTTGAGATCAAATGCCCCGGCCTGGGCTCCATGCCACAGCATGGCAAACTCTCCAGAGACGTGGTACACGGCGAGAGGGAGGTCAGGGTGCTGCAGGGAAGCAGACAGGGAGACAGGCTGAAATGGAGGGTGGATGTGGCTCTGGAAGCGTCCCTTCCCCCCTGCTCAATCTGTGACCATCTTGAGCCCCGTGTCCTGGGTTACTGCGGCTGGCAGCCTGGCCCACTCTTGAACTGTTAAAGCAGGGCTGTTTGAGGCTCGTGCAAGCCCCGACATAGAAGGCCACGATGGTTCCTGGGCAGGGAAGGGGAGGAGAGGATGCATGCTTAAGGGCAAACTGCTTCCAACTCTGAGATTCCAGAGTCTGTGGAAAACTCTGTCCCAGCCCCCTGAGCCCCCTTTGCCTCGTACCTGTGCTCACCTTGTCCTTTACCTCCCGCACGATGTCCAGGTAGGGCATTCCCGGCTTCACCATGAGCATGTCAGCTCCTTCCCGTACATCCCGGTCCTAAGGGATGAGGGTATAATGTGGGTGGTGCCTAGGAGGGGGCTGAGGGTGGGGCTCAAGTCCTAGTCACTCACCACAGCTCGGAGAGCCAGGCCTCGTGCTCCAGGGGGCAGCTGGTAGCAGCGGCGGTCCCCAAAAGCTGGGCTTGACTTAGCTGCATCCCTGCAAAGCAGAGTCATCAGGGTGGGCTCCAGCTTTGGGCCAAAGGGCCAGGGATTCACAGCAGACCCCTGCCCACCCCTGCTCACCGGAAAGGGCCATAGAAACAGGAAGCAAATTTGGCACTGTAGCTCATCACCGATACCTATGGGGAGACAATGGAGGTCTTGGCTTATTCGGCCCTTGCCAGGTATCCCAGGGTGATGTGGCAGGGAGAGAAAGAACCTAGGCTGGGAAGGAGACTGCCTGTGTTCTGGTCCTGTTGGAGTGCTGGGCTTGATTTCCCTGCAGAGGCCCAGAGGTTTAAATGGTTCCCCAAAGCCTCATCCAGCACTGTCTTCAGTTCTGTGATTCTTTTTTTTTTTGAGATGGAGTCTAGCTCTGTCATCCAGGCTGAAGTGCAGTGGCATGATCTCAGCTCACTGCCTCGTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGTGTGAGCCAACACGCCCGGCAGTTCTGTGATTCTTAGCAGACACGGGGGCAGGGCTGGTGCAGACTATCTCCTGCCAGCCCTGTGCTGCATTCCCTGCCCTTACCCTGTTGCCAAGTCCATGTGCCATCAGGGCCTCTTTGATGGCTTCCACGCGTCCATCCATCATGTCCGACGGGGCTACCACCTGACATCCTGGGGGGCAGAGGGTGGCCTTCAGAACTCTGGGGCCCTCCTAGCCACTCTGCCACCTCCTGACCCAGAGGTGCCCATCCCTGCTGGTGGTTCACTCACCTGCCTTGGCATACGCCAATGCCACCTCAGCCAGCCGCTGGCGGCTCTCCTCAGCCCGGAATGCTCCGTTTTCACTCAGGAGCCCTTCAGGACAGATGACTGGGTTTTGGGGAGCACCTTGGGCCCTGGCCTGTCCCCACCCTGTTGAGAAGTGGGCAGTAGGAGTGTGGGTGGCAGCAGGGCTGGTGGGAGGGAGGGAACTCACCGCAGTGACCATGGGAGGTGTAGGGACACAGGCAGACATCACAGGCCACCAGGAGGTTGGGGAAGGTCTTCCTCAACAGATGGATTGCCTCAATAGCTGGGGACTCCTCGGAGTCAGCTGCGGAACCCCGCTCGTCCTAGGGGCAGGGGAGGGACAAAGCAGTGTGTCTATTACATGTAGCTTTGGAAGGCAGGATGACAGCCATCACAGAGCATAGCCCTGGCCTTCTCCTTCCTTCATCATCACAGCCCCTGGATAAGGAAGCACAGAGGACTGACCCTACATGGGTGCTGACTTAAGGGCAAAGACCACGTCCATTCACCTGTGGCCCCAGGGCC
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TTTACAAACTACAAATTTGATTGAGTCACTCTGAAAAGGTGAATGTGGCCCTTGACCTCTGCATGGTTTGGTCCTGGTCTGTCTCTCTCCACTCAGTTCAGGCCATCCTCTCAGTGCTCCAGACAAGCTAGCCTTGCATTCCTCCAGCTAGAAGGAGCCCCAGGGCCTTTGCACAACTCCTCCCTCTCCCTGGAATGCTCTTCCCCAATTGTCTTAGCTTGATGGCTCACCCTTCAGGTCTAGGCTCAAATGTCAGTCCTTCAGGGAAGTATTTTCTGATCCTTCAAAGAGGTCAGGTCCTGGTGACCTCCTTCAGAGCACCTGTCACCACATCACTGGTGCATGTCTGCCTCCTTCCCAACTACTGTTTCAAGAGAGGCCCCTTCCCTGTTGTTGTCTCAGACCCCTTCTTTCCTTCAAAGCACTTATCACAATTTGTAACTGCTTTATTTCTTTGTTTTCTTCTTAGCTGTCTCCCCAATTCTCTTTGTATAATTTCTATGAAGAGATAAGCTGAGGTCTGTCCTGCTGTATTCCCAGGACCCAGCACTGAACCTAGGAACAGAGCAGAGATTCTCAAAAAGTATCTCCTGAATAAAAAGTGTTTGTGGTGGTGGCACCTCTAGCAGTCAGGAACTCCCTCTTTGCCTCTGAGTTTTGATCCTCAGGCAGTATTTATGCTGGTTAATGAGTAATTCTTCTCTGGGTTTATGGTTCAGAGTAGAATAGGAGACCTCAGGCAGCCTGGCAACCTCTGGCCTCGTGGGAAATGCCTTCCAGTGGAATTGCGGCAAATTTCAACTCTAACCCAGGGATATCGATCTAGGCCTCATTCCCACACCCAGCTCTGCTGCCAGAAGCGTTCCAAGGCTTCTCAGGCCCCAAGATCCCACTGCTCTCTTCTTCCCCTAATGCTCCAAGACCCTCTCCCAGCCAGGCCCCAAAGGCTGTGCCCCCGACTCCAGGTTGCTTTCAAGCTGAAGCCACACCAGAGGAAAGAGCTGAGGGTGGCAAAGGTGGGCCTCACGGCTGACCCAGGGGAGGGGCGGGGAAGCTTGGGAGAGCTCATAGGATGCAGCTGCGAGTTACAAGAGTTAGCATGCTGGCAAAACCACCCAGGGCTGCTGGGCCCCGCTAGCATGTGAGCAGGAAGAGGGCATGAGGGCACAGTTCTAAAAGCAGCATTTACTTTGGTTTTCACTTGTCTGAGGCCCCGGGAACGTTTTAAAGTTCTAGTTCTTGGGCCTGGCACTGTCTCCATCATTCCTCCTTCAGCCACTGCAGCAGCTGCGGTGTGTAGTAGGTGATGATGATGTCAGCACCTGTGTTGGGAGAGATGCAGAAAGTTGCTGGGGGGACGCTGATCAGCTCTGAGCACACCTTCTGCGATGGGAAGGCCAGGCGGGGAAGAAGGCTACCATGAAGAAGCACAGCCTGTGGGCACACCACATGAGACGGAGCCCAGCTTTGGGAAACTCTATTTCTTGGGCAAGTCATTTCCTCTTTTGGGGCCTCAGTTTACCAAAGAATAAAATGCACAGTGAAGGAAATAGGTAAGAGGCAAGTTCCTTCCCATGCTGGTGTGCAATTCTAACAAAATGAGTCCCCTTTATGGAGTGATATTACTTCATTTAATCCTCAGGACAACCACGCACCAGGTATCTTATCCCCAGTTATCCAGTTATGGGTGAGGACACTGAGGTTCAGAGAAGTGGCTTGCCCACGTTCTCACAACCAAAAATGAAGGGCTCTGCTTGCTTCACCGGGCCGTGTTCTATGCTGCAGTTCCATATCTCTTCCTCAGTGTGTGTCTGTTTAGATCACTAGTAATTCCCGGAATAAGATCCCAAGCTCTCAGGACGTCGTTCCCCAATCTAGGCAGAGTGCTTATCAGTCCCTGTGGCGCAGGTCAAAACACCCCACCCTTGCCTGCCTACCTGCTCTGCGGAAGGCAGTCATGGCCTCCAGTACGGCAGCCTTGAGATCAAATGCCCCGGCCTGGGCTCCATGCCACAGCATGGCAAACTCTCCAGAGACGTGGTACACGGTGAGAGGGAGGTCAGGGTGCTGCAGGGAAGCAGACAGGGAGACAGGCTGAAATGGAGGGTGGATGTGGCTCTGGAAGCGTCCCTTCCCCCCTGCTCAATCTGTGACCATCTTGAGCCCCGTGTCCTGGGTTACTGCGGCTGGCAGCCTGGCCCACTCTTGAACTGTTAAAGCAGGGCTGTTTGAGGCTCGTGCAAGCCCCGACATAGAAGGCCACGATGGTTCCTGGGCAGGGAAGGGGAGGAGAGGATGCATGCTTAAGGGCAAACTGCTTCCAACTCTGAGATTCCAGAGTCTGTGGAAAACTCTGTCCCAGCCCCCTGAGCCCCCTTTGCCTCGTACCTGTGCTCACCTTGTCCTTTACCTCCCGCACGATGTCCAGGTAGGGCATTCCCGGCTTCACCATGAGCATGTCAGCTCCTTCCCGTACATCCCGGTCCTAAGGGATGAGGGTATAATGTGGGTGGTGCCTAGGAGGGGGCTGAGGGTGGGGCTCAAGTCCTAGTCACTCACCACAGCTCGGAGAGCCAGGCCTCGTGCTCCAGGGGGCAGCTGGTAGCAGCGGCGGTCCCCAAAAGCTGGGCTTGACTTAGCTGCATCCCTGCAAAGCAGAGTCATCAGGGTGGGCTCCAGCTTTGGGCCAAAGGGCCAGGGATTCACAGCAGACCCCTGCCCACCCCTGCTCACCGGAAAGGGCCATAGAAACAGGAAGCAAATTTGGCACTGTAGCTCATCACCGATACCTATGGGGAGACAATGGAGGTCTTGGCTTATTCGGCCCTTGCCAGGTATCCCAGGGTGATGTGGCAGGGAGAGAAAGAACCTAGGCTGGGAAGGAGACTGCCTGTGTTCTGGTCCTGTTGGAGTGCTGGGCTTGATTTCCCTGCAGAGGCCCAGAGGTTTAAATGGTTCCCCAAAGCCTCATCCAGCACTGTCTTCAGTTCTGTGATTCTTTTTTTTTTTGAGATGGAGTCTAGCTCTGTCATCCAGGCTGAAGTGCAGTGGCATGATCTCAGCTCACTGCCTCGTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGTGTGAGCCAACACGCCCGGCAGTTCTGTGATTCTTAGCAGACACGGGGGCAGGGCTGGTGCAGACTATCTCCTGCCAGCCCTGTGCTGCATTCCCTGCCCTTACCCTGTTGCCAAGTCCATGTGCCATCAGGGCCTCTTTGATGGCTTCCACGCGTCCATCCATCATGTCCGACGGGGCTACCACCTGACATCCTGGGGGGCAGAGGGTGGCCTTCAGAACTCTGGGGCCCTCCTAGCCACTCTGCCACCTCCTGACCCAGAGGTGCCCATCCCTGCTGGTGGTTCACTCACCTGCCTTGGCATACGCCAATGCCACCTCAGCCAGCCGCTGGCGGCTCTCCTCAGCCCGGAATGCTCCGTTTTCACTCAGGAGCCCTTCAGGACAGATGACTGGGTTTTGGGGAGCACCTTGGGCCCTGGCCTGTCCCCACCCTGTTGAGAAGTGGGCAGTAGGAGTGTGGGTGGCAGCAGGGCTGGTGGGAGGGAGGGAACTCACCGCAGTGACCATGGGAGGTGTAGGGACACAGGCAGACATCACAGGCCACCAGGAGGTTGGGGAAGGTCTTCCTCAACAGATGGATTGCCTCAATAGCTGGGGACTCCTCGGAGTCAGCTGCGGAACCCCGCTCGTCCTAGGGGCAGGGGAGGGACAAAGCAGTGTGTCTATTACATGTAGCTTTGGAAGGCAGGATGACAGCCATCACAGAGCATAGCCCTGGCCTTCTCCTTCCTTCATCATCACAGCCCCTGGATAAGGAAGCACAGAGGACTGACCCTACATGGGTGCTGACTTAAGGGCAAAGACCACGTCCATTCACCTGTGGCCCCAGGGCC
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Task1_train_13105
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Chromosome 9 houses a mutation in gene KIF12 (kinesin family member 12). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Cholestasis, progressive familial intrahepatic, 8
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TGGCCCTGACAGGGCAGGGTGAGGAGGGGGGAGGGTGAGGCAAACAGCTATTTCAAACCAGGGCAGAGGGAGCCCTAGGCCAGCCATTCACTCCCCATGATCTAGCCTGCAGCCCTGGAATCCCTGGGGCTCTGGATTGATGACTCCTGGATCAAGGTCTCCAGTTCTCCCAGCCTTCCCTCACTCCCACCATGGCCTTTCCTACCTGGGGCAGGTGGTGCTCCCCTGGCAGGCAGGCCCAGTGGGCCAGGGGCACTCGACACAGTGGGCAGATGTGGCAGCAGGGGCAGGAGTAGAGGGGTGGCAGTGCCTGCAAAAAGGTGCGTCAGAGGCTCCATGACATCCCTACTTGTCACCCCTCCAGGCTGGGCCGTGAGACTCACATGGCAAGGGGGAGCTGGGGCCATCAAGCAGGGACACGGTGGGGTCAGGCCAGGACCCTGCTGGTGATGGTAGCAGGCAGAGAGGAGACGCCTAGAAAGAACAGCAGGGTCTATGCCTGCAGCCTCCAACCCTACCACCAAGCTGGCTTTCAAATCCCCTTCCCAGCTAATACTCCTGGATCCCGTACCAGGTACCGGGCCCCATTCTCAAAGTTTTACATGTTAACTTATTCTCTCTGATTTTTAAAACAAGCCTATAAGTAGGCACGACGATGAACCCCATCTTACAGAAGAGGAAACCCAGGCAGTGAGAAGTTAAATGACTTGCCCCAGGTGACACAGCTAGTAGGTGGCAGAGCTGGAAACTGAACCTAGTTGGTCTGAATCCAGAGGCCAGCCTCAAGCAGTTCATTAAGCCATCCCTTTTCCCAGCTGCCCTCTGTCCAGAGGCCTGGCTCCAAGCTGGTGGCTCTGCTTACCTCTCTAGTGCATGGACCTGCTGGGCCAGGATGCGCTGCTCATTCTGGGCCAGGTCTCGGCTATTCTGCAGCTGGCTCTTTTCTTTCCTAGGGGAGATCACAAGCCAGGAAGGGGTAGGAAATGGGGCTGGGGTGGGGCATCAGTCAGCTCCTCCTCATTGCAGCATAGCACCAGTTCAGGAAGCAGGTGGGGACATAAGGGAGCCAGGGGCAGGGAGAGGAGGCAGTTTGCCAGAAGCAGCCTAGCAGTGATGGGTGGGGAGCAGCATCCCTCTGGCTGTGGGCTGTGCCCTACCTGAGCCTCTCATTCTCTAGCATGAACTCCTGTAGCATCCCGTACAGGTTCCGCTGGGCCCAGGCCACCCGGGCTCCACTGAGCCCTGAGGCTGCAGGGAAGCAGGAGGTGGTGGATCCACAGGAGCCCCAGACCCTATCCCCATCCTACTCTGCCTCCAGGAAGCCCATACCCTTGCAGTCCATTTGGTCCAGCTGGAACTGCAGGCGACGGTTCTCCTCCTGGAGCTGCAGCATCTCTGTCTCCAAACGCTGGGGCTGCTTTGCCACAGGAGACTGTAGGGAAAGAGGCCCAGAGCCACCTTTATGGTTGTATAAGTCGTGCACTGCACAAGAACTTCCGGGTGTGGGAAGTAACTGGGGCCTAAAATCCAGCCCATGCTTCATTCGTCAGCCTTGCATCTTGGCACAAGGCTGTATCTGCCTGGAAGGGGCACCTTGTCCTAAGTGCACTGTCCTGGAGGGCCCCACTCTGAGCTGGACTCAGCTGTGAGTCCAATCCCAAACTCAGTTCTGTCCAAACCTTGGGCCAGATAATGGTTCCAAACGAGACCCCACATTAGGCCCCACATCAACTCCCACTTAACCATGATACTAACTGAGCTAGACCCTGAATCATATCCCAACTCAAACTCCAACCCTAGACCTGCCCTAAACCTGGCATGACCCTGGCTGGGACCCTGACCCCATCCTATACAACCATGATACCGATTCCAGGATTCCAACCCTAATCCCAACTTTGACCCAGTCCAAGACTTCAATCAAGGGACTCAGGCTCCAACTCCTGCCTGATCCCCCAGCATCTCCACGCCTGTCCCTCAGCTTGTGCCTGCCTATACTCACCTTGGGGGCCTGTGGTCGGGTGGTGACCCGCTGAGCTCGGCTTGCATATCGCAGGGTGCTGAGAGTCTCAGGAAGGCACTGGGCTGAGGGGGACACGCAGGCCACCTGGGGAGTGCACTCCCCCTGAGCGCTCCTCTCTGAGGGCCCCTTCCTCAAGACCCAACCTTCCCTGCCAGGCCCCGCTTAAGTACCATGAGGGTGACCCCGCGCCCTCCCAGTGAGTCTGCCAGCAACTTGGTGAGCTTGCTGTCCCGGAAAGGGATGTGGCTCTGCTTCCGCTGTGGGTCCAGCAGCAGGGAGATGCAGTGACCTGGGGAGGGAGAGCAAGAGTTAGGAAGGTTACATCACTTGCCTAGGGCCATCAGGCTGGGATGCTGCAGAGTTGGGCTCTCCACCCAGGCCTGTGTTGCCCTAAAAACCCATCTTTCCACATGATCTCATGACTCAGTCAGATTGGTCTCCACCACCAGACTGGGACTCTTTGAGGGCAGAGAAGGCCCTGTATACCCTGACCCTCAATGCCCAGCAAAGTGCCTGGTACTCAGGCACTCAGAAGGAAACTTCTAACAAATGGATTGTACACAAAGGAGTTTCGCGGGCATCTCACATGCATGCCACAGAGGAATACTGAGGGCACAGCCCCTGAGGATCTCCAGGTCCAATACCCTGGGGTGGGGTTGGGGAGAAAGCTCAAGTCCCTTCCCCTTACTAGGCCTCAGTCTTCCCAACTGCACAAGGGACATGCCAAATGTCTCTGAGGGTTCATCTTCTGCAGTTGAGTGGTTCTATTTCCCAAATTAGCATGGAACTTTATACACCCTTAGAGTTTATACATTCATAAGCAGTGTTTTACGAAGGGAGAAGTCAACAGCAGAGCTGGGGCCAGAATGGGGCCTTTGGTTCCTGGATCGCAGCTCTTTAACCCTCTTCTATTTACTACAACTCCTCTGGTATCCCCCACTGTGGAGAGCTGTGAGCCAGGCACAGAGGAGAGACAGGAAATCACACCGGTGGCCCCCAGGTCTCACCCAGGGCCAGCAGGCTTCGGTTGATGCTGTTAGCCTCAAGCATCAGCTCCCCACGGGATCCCGTGGCTGCTACCTTCTCACTGCCTGCCAGGTCCACAAAGCACAGCTTCCCACCAACAGGGGGCTCCCCAGGGTCCACAGAAGGCATCTGCTGGGCCTGAGGGATCAGAGCTTCATGGGGACTTGGGAGGGACCGTCCCCATCAAAGCCACAAGGTTATGGGACCAAGAGTTTCCATTATTAACCCCCATGCACACCCAAGTTGGTTTATATGTCCAGATACAGACCCTTGCTTGGTGGCCCCGGGTAAGCACCTTCCCAGGCTGGAGCACTCACAGTTTGACGGCTGATGTAAAGGGTGAGCAGGGCATGGCTTCGGCTGGAGGCCTGGTTCAGGGTGTGGGCTGAGTTCCTTCGACGGCTGAGACCTGGAAGGGAAAAACATCAGGAGCTGGACCTGGTAGGAAGAACAGGTCATCATCAATGAAGAAAAAGGAGCAAAGGAATCCTGGCGGAAGGGTCAGCCTCATGCAAAGGCAGGGAGGCAACAGAGTGGGTGTTGTTCAGGGAACGATGGGATGTTGGGCCCTGCTCTAGCAGAGATGGGTGGATGGAGGATAGAGAAAACTGAGCAGAAGAATGACAGTCAGATTTGCATTTTATAAACATCTCTCCCACTGCTTCGTGAAAGGAAGGGGAGAAACTGAGGCAGGAGATCAGCTGAGAGGTGTGGCACAGTGCTGGGGCCAGAATCCACAGTCAGCATCTCCAGTGCCTGCCAAAGGAGGGGTGCCCAATAAATACTTGATTTAAAAAAAAGAATGAGGCTGAAAGGGCCTTTAGGCTAGGCTAAGAGGTATGACCTTGATCCTCAGGGCCCTGGAAGGGTGGAGGGTCTGGAGGCAAAGAGAGATGGGGTTTGCAGCATAGAGGAGAATGGATGGGCAGGGGAGAGCCTTGAGGTGCAGAGACCACCAGGGAGCAAGAATGAGTCCTGGCGGAGGCCGAGGCCCTGGGCTAGAGAGGAGAGGGTGTGAAAGGAGTTTGGAAGGCAGAATTAGCAGGCCTT
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TGGCCCTGACAGGGCAGGGTGAGGAGGGGGGAGGGTGAGGCAAACAGCTATTTCAAACCAGGGCAGAGGGAGCCCTAGGCCAGCCATTCACTCCCCATGATCTAGCCTGCAGCCCTGGAATCCCTGGGGCTCTGGATTGATGACTCCTGGATCAAGGTCTCCAGTTCTCCCAGCCTTCCCTCACTCCCACCATGGCCTTTCCTACCTGGGGCAGGTGGTGCTCCCCTGGCAGGCAGGCCCAGTGGGCCAGGGGCACTCGACACAGTGGGCAGATGTGGCAGCAGGGGCAGGAGTAGAGGGGTGGCAGTGCCTGCAAAAAGGTGCGTCAGAGGCTCCATGACATCCCTACTTGTCACCCCTCCAGGCTGGGCCGTGAGACTCACATGGCAAGGGGGAGCTGGGGCCATCAAGCAGGGACACGGTGGGGTCAGGCCAGGACCCTGCTGGTGATGGTAGCAGGCAGAGAGGAGACGCCTAGAAAGAACAGCAGGGTCTATGCCTGCAGCCTCCAACCCTACCACCAAGCTGGCTTTCAAATCCCCTTCCCAGCTAATACTCCTGGATCCCGTACCAGGTACCGGGCCCCATTCTCAAAGTTTTACATGTTAACTTATTCTCTCTGATTTTTAAAACAAGCCTATAAGTAGGCACGACGATGAACCCCATCTTACAGAAGAGGAAACCCAGGCAGTGAGAAGTTAAATGACTTGCCCCAGGTGACACAGCTAGTAGGTGGCAGAGCTGGAAACTGAACCTAGTTGGTCTGAATCCAGAGGCCAGCCTCAAGCAGTTCATTAAGCCATCCCTTTTCCCAGCTGCCCTCTGTCCAGAGGCCTGGCTCCAAGCTGGTGGCTCTGCTTACCTCTCTAGTGCATGGACCTGCTGGGCCAGGATGCGCTGCTCATTCTGGGCCAGGTCTCGGCTATTCTGCAGCTGGCTCTTTTCTTTCCTAGGGGAGATCACAAGCCAGGAAGGGGTAGGAAATGGGGCTGGGGTGGGGCATCAGTCAGCTCCTCCTCATTGCAGCATAGCACCAGTTCAGGAAGCAGGTGGGGACATAAGGGAGCCAGGGGCAGGGAGAGGAGGCAGTTTGCCAGAAGCAGCCTAGCAGTGATGGGTGGGGAGCAGCATCCCTCTGGCTGTGGGCTGTGCCCTACCTGAGCCTCTCATTCTCTAGCATGAACTCCTGTAGCATCCCGTACAGGTTCCGCTGGGCCCAGGCCACCCGGGCTCCACTGAGCCCTGAGGCTGCAGGGAAGCAGGAGGTGGTGGATCCACAGGAGCCCCAGACCCTATCCCCATCCTACTCTGCCTCCAGGAAGCCCATACCCTTGCAGTCCATTTGGTCCAGCTGGAACTGCAGGCGACGGTTCTCCTCCTGGAGCTGCAGCATCTCTGTCTCCAAACGCTGGGGCTGCTTTGCCACAGGAGACTGTAGGGAAAGAGGCCCAGAGCCACCTTTATGGTTGTATAAGTCGTGCACTGCACAAGAACTTCCGGGTGTGGGAAGTAACTGGGGCCTAAAATCCAGCCCATGCTTCATTCGTCAGCCTTGCATCTTGGCACAAGGCTGTATCTGCCTGGAAGGGGCACCTTGTCCTAAGTGCACTGTCCTGGAGGGCCCCACTCTGAGCTGGACTCAGCTGTGAGTCCAATCCCAAACTCAGTTCTGTCCAAACCTTGGGCCAGATAATGGTTCCAAACGAGACCCCACATTAGGCCCCACATCAACTCCCACTTAACCATGATACTAACTGAGCTAGACCCTGAATCATATCCCAACTCAAACTCCAACCCTAGACCTGCCCTAAACCTGGCATGACCCTGGCTGGGACCCTGACCCCATCCTATACAACCATGATACCGATTCCAGGATTCCAACCCTAATCCCAACTTTGACCCAGTCCAAGACTTCAATCAAGGGACTCAGGCTCCAACTCCTGCCTGATCCCCCAGCATCTCCACGCCTGTCCCTCAGCTTGTGCCTGCCTATACTCACCTTGGGGGCCTGTGGTCGGGTGGTGACCCGCTGAGCTCGGCTTGCATATTGCAGGGTGCTGAGAGTCTCAGGAAGGCACTGGGCTGAGGGGGACACGCAGGCCACCTGGGGAGTGCACTCCCCCTGAGCGCTCCTCTCTGAGGGCCCCTTCCTCAAGACCCAACCTTCCCTGCCAGGCCCCGCTTAAGTACCATGAGGGTGACCCCGCGCCCTCCCAGTGAGTCTGCCAGCAACTTGGTGAGCTTGCTGTCCCGGAAAGGGATGTGGCTCTGCTTCCGCTGTGGGTCCAGCAGCAGGGAGATGCAGTGACCTGGGGAGGGAGAGCAAGAGTTAGGAAGGTTACATCACTTGCCTAGGGCCATCAGGCTGGGATGCTGCAGAGTTGGGCTCTCCACCCAGGCCTGTGTTGCCCTAAAAACCCATCTTTCCACATGATCTCATGACTCAGTCAGATTGGTCTCCACCACCAGACTGGGACTCTTTGAGGGCAGAGAAGGCCCTGTATACCCTGACCCTCAATGCCCAGCAAAGTGCCTGGTACTCAGGCACTCAGAAGGAAACTTCTAACAAATGGATTGTACACAAAGGAGTTTCGCGGGCATCTCACATGCATGCCACAGAGGAATACTGAGGGCACAGCCCCTGAGGATCTCCAGGTCCAATACCCTGGGGTGGGGTTGGGGAGAAAGCTCAAGTCCCTTCCCCTTACTAGGCCTCAGTCTTCCCAACTGCACAAGGGACATGCCAAATGTCTCTGAGGGTTCATCTTCTGCAGTTGAGTGGTTCTATTTCCCAAATTAGCATGGAACTTTATACACCCTTAGAGTTTATACATTCATAAGCAGTGTTTTACGAAGGGAGAAGTCAACAGCAGAGCTGGGGCCAGAATGGGGCCTTTGGTTCCTGGATCGCAGCTCTTTAACCCTCTTCTATTTACTACAACTCCTCTGGTATCCCCCACTGTGGAGAGCTGTGAGCCAGGCACAGAGGAGAGACAGGAAATCACACCGGTGGCCCCCAGGTCTCACCCAGGGCCAGCAGGCTTCGGTTGATGCTGTTAGCCTCAAGCATCAGCTCCCCACGGGATCCCGTGGCTGCTACCTTCTCACTGCCTGCCAGGTCCACAAAGCACAGCTTCCCACCAACAGGGGGCTCCCCAGGGTCCACAGAAGGCATCTGCTGGGCCTGAGGGATCAGAGCTTCATGGGGACTTGGGAGGGACCGTCCCCATCAAAGCCACAAGGTTATGGGACCAAGAGTTTCCATTATTAACCCCCATGCACACCCAAGTTGGTTTATATGTCCAGATACAGACCCTTGCTTGGTGGCCCCGGGTAAGCACCTTCCCAGGCTGGAGCACTCACAGTTTGACGGCTGATGTAAAGGGTGAGCAGGGCATGGCTTCGGCTGGAGGCCTGGTTCAGGGTGTGGGCTGAGTTCCTTCGACGGCTGAGACCTGGAAGGGAAAAACATCAGGAGCTGGACCTGGTAGGAAGAACAGGTCATCATCAATGAAGAAAAAGGAGCAAAGGAATCCTGGCGGAAGGGTCAGCCTCATGCAAAGGCAGGGAGGCAACAGAGTGGGTGTTGTTCAGGGAACGATGGGATGTTGGGCCCTGCTCTAGCAGAGATGGGTGGATGGAGGATAGAGAAAACTGAGCAGAAGAATGACAGTCAGATTTGCATTTTATAAACATCTCTCCCACTGCTTCGTGAAAGGAAGGGGAGAAACTGAGGCAGGAGATCAGCTGAGAGGTGTGGCACAGTGCTGGGGCCAGAATCCACAGTCAGCATCTCCAGTGCCTGCCAAAGGAGGGGTGCCCAATAAATACTTGATTTAAAAAAAAGAATGAGGCTGAAAGGGCCTTTAGGCTAGGCTAAGAGGTATGACCTTGATCCTCAGGGCCCTGGAAGGGTGGAGGGTCTGGAGGCAAAGAGAGATGGGGTTTGCAGCATAGAGGAGAATGGATGGGCAGGGGAGAGCCTTGAGGTGCAGAGACCACCAGGGAGCAAGAATGAGTCCTGGCGGAGGCCGAGGCCCTGGGCTAGAGAGGAGAGGGTGTGAAAGGAGTTTGGAAGGCAGAATTAGCAGGCCTT
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Task1_train_13106
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A variant has been detected on Chromosome 9 in COL27A1 (collagen type XXVII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Steel syndrome
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GACACATTCCAGCTGTGAACTGAAGAATGTTTGTGGTTTGGCTAACGATGATTGGAGAAGGGGTTTCTAGGTGTGGGTGACTGCCTGAGCAACAGCCTGGTCGCAGGACAGTGTGGGACATGGCTGGGGCGTGGGCTGTGGTTTGAGGATAGAGCAGAGGGACCCTCTCTGTGGGTTTGGCTGCTGAAAGGAGAGCAGAGTCTAGATAGGGTGCCTGGGACTGGCTGGATTACAGAAGACTTGGGATAGCAGAAGGAGGAACTTGGACTTTGTCACCATGCAGTCAGGGGAAGCTGTGGAAGGTGTTAGAGCAGGGGAGTAGTAGAATTGGAGAAGACCCTCTGGAGGTGTGTGAGTGGGAGGATGGATGGGAAGGCATTTAAGCAAGGGAGCAGGGCTTTGAGCAGAGTTTGTGGGGAGGCAGACATCCTTTCTAGATGACTTGGTGGCCAAAGTGGAATTGTTTTTGTTTCAGGGACAGAAAGGGGACCCAGGGCTCTCACCAGGAAAGGCCCACGATGGGGCAAAGGTAGGTTTCCAGGGACCCCAGTTCTCAGGGAAGAGGGGAGTGGATGATAGTGAAATTGCCACACTTTAAAGCTAGCTGTCCTGCCAGAGGCCATGCATGGCAAAGGCAGGGAGGTGGGAACATCTGGAAGGGTTAGGGTATGGTTTGGTTTTTTCCTTGAAGTCCTTTAGCCTTTCCCAACACCAAACCCACCCAAGGTTATTCCCAGCCACCTTCTTTCCAGAATGCAACCAACAAAACTGACAAAAGATTTCTCCTATGGACACACGCTTGGTGAATGTCCTTTTGCCTAATGTCCTGCATGGCTTTCTGCGGGGTCTGCTAGGTGACTGTGGGCATCCAGAAGTTTCTTGGTAGCACATGGCCAGGAAGCTTCCAATAGACACTCAAAGCCTTTGCTGAGGTTAACTCCAGCAGACGGGTCTGTGGATTTCTAGGAGGCTAGAGATTCAGGGCTCCCTAACTCTGAAGGGCTATGAAACCAGGCTTGCCTGCAGAAGGAAAAACACTTTGGCTAAAGGCCTTCATCCGTCTCTGAAGCATCCACCCCATAAACTGAGCAAGGGACTTGGAGGGAGTGCAGGACAGATGGGAAGAGGGGAGCCCAGAACTCCAAATGAGATTGTCCAGTGTGTCAGTCTTCCAGGCACACACACCCTGGAAGCAATGCCCAGGTCTGCCTGACTTCCTTCTGGACACAGCCCCAGAGCCATCCTGATGGATGGAACACTGCTTCTCAGCCCAGCCTCCTGTGCTTAAAGGCACCTAGAATTGGCTGCTTTCTTTGATTTCCCCAAGACACGAGTTGCTTATTTCTTCACATCCTCACTGCTAGGTGTTTGCACTTAGCACATATTTACTGGGTGACCCAGGGTCCCAGGAGAGTGTTCCCATATACTACCACTTGACCCCCATCATACCCCATGAGCCAGGACAGACGGGCCCAGCTTACAAATGAGAAAACGGAGGCCTAGGCAGGGGTGGCTTGCTGGAGGTCATGCAGCTGATAAGTGGCAAAATGAGATCGGCACCCAGGAGCCCAGGCTTCCCTCCTGCTCCTGTGTGGCCTGTTCTCAGGTCTTGGGGTGGTGGCAGAAATGCCCCCTGCTTGGCCAGTGGCATGCCCAGCAATGGAAGGTGTCTTAGGACTGCAGGGAGAGATGGCTGATTGATATGGGACTGATAAGGCACATGTCCTCTGGAGCATAGTTTTCAAACGTGGTTTTAGTATCGGAACCCATTCTTCAAGTGGTGTCTTCTGCTGAAGCCCAGTATGTAAAATAGATCAGATGGAGCCGCTGAGTTGAGTGGGGAAGGGGCTGGGTACACCACTCACTCTTCTTGCTGGGCAGCCCCCGAGTCTCCTCTGAGGCCTCTACTTCTCTATGAATCTCATTTGGAAACAACCAGCCATTGGAAGTTACCATTCCAATTTGTAGAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCAGGTCTTCAGGCAGAAGAGCTGTGGGCCCACCTGCCTCTCCCCAGCCCCAGCCCAGCTCCCCTGGGCACAGGGTACATGGGTGAGAGGTGAGAGAGCTTTCCAAGGGTTGTGCCTGTTGAGGGCAGGGAATACCTCGGCTCGTAGTAGGTGCCTCCCACCACGGTTAATGAGGTAGCATAGGAAGTATCCTTGGTTTGCTGTCCTTCCTTTTGGGGGCCCAGCCGCTCCCAGGGAGGCCACCTTCAAGAAAGCCTGTGGTGATGGAGTAACCTGTGCTGGCCCTGGCTCCACCACCCACTGTCTGAGAGGCCGTGGGCCTGCGAGTCCTGTCTCTGCCCCTCAGCCTCCTCCTACATGAGATGGAGACAATGATCCCCGTCTCTGACCCTGCACAGTCTGGGGCTGTGTGACCAGGAGCAAGGCCTGGAGCGGAGAAGTTGAGGGAGTGGACCCTGGGGTCAGTTGGACCTGGGTCCTACTCCTGCTTCTGCCATTTCCTGGCTGGGTGACCTTGGGCAAGTCAGTGAGCTCTCAGAGTCTAATATGCGGCCCTCGCTGATGCTCTGCAGGGGAAGGGGAAGGGGAATGATCTGGAGAGGCAGTGGGTTCTCTCTATCTTGCTGGCTGTTGTTATGTCACGCCCATCCCATCCCCATTTCAGCCATGCTGGGGGAGTTACCTGTCCAAACGCCTGTGTGAGGAAAAGACTGGCATTTCCTGGGTAGTGGGTCTGTAACTTACAGTCCCCCTGGATTTCTGTGACTCCTCCAGCCTGTGTCTCCCTTCCTTCAAGACTCTACTCTAGTTGTGCCTACTCCAGGAAGTCCTCCTGGAGCACCCAGCTTCAGGCCATGAGGCTCCTCTCTGCTCAAGAACACTTAAGCTGTCTTGGCTTAGTTATTTTGAGCCACCAGGCATGCCTCACCAACCAGGGTGTGCAAATCTGGTTTATTGCTCTTCCTACTGAGCCTAGCATGAAGCCTGTGCATAGCAGGTGTTCAGGAAATGGGGGGAAGGCAATGCAGACTAAGGATCGATTGCTTTTTCCAAGAAAATCCCCAACCGCTGATGGATTGTCTGGTGAATCCATCGGCCTACCACTGTGTCTTAAGCTTCTGCCCTGGCTCCCAGCTGTGGCCACAGCTGAACTCTCTCTAGGCCATCTGGCTCTCATCTGGACAGCTGGGGTGTCTCCCAGCTCCATCCTGTTCTTGCCTTGAGAGCCCCATGACACAGGGGGCCTTGCAGGACCTCGTTCCCCCATTCCCTTCTCCATGGCCAGAGCAGGCCATACCTTCAACCTGAGAGGCCCACCCCAGAAGCAGTGGCTGTTTGTGAGCTGGGAAACATGGTCCTTTCTGGCTCACAGAACACAGAGGGACTTGCGCTCCCCACTTACTTCCTCTCTGGGCTCTAGCGCTTTCTGATGGATGAGGTGTGAGTGGAAAAGGCTCCTTCCGGTCCCAGCTCATAAAGCAGCCTCGGGTGGTCTTGTTCTGCATGGGGGTGGCAGCCTAGCAGAGGTGGCAGGAGATGGGGAAACCAGACTGGAACCAGCTCCTCCCTGGGGTGCCAGGGCTCCTTGCATTAAGCAGATGTCCGGGGAGGCCAAGGACCCCCAACCAAGAGGAGCCAACTCACCTGAGCAGGGAGAGGCAGCTTCTCCAAGTTAAGGAAAAGCCACTGCGCAGCTGGAAAACTATTTGGCAAAGCCAATTGCTCTGAGCTCCCCTCTGGCCCTGGCCTAGACATGCACAGAAGAGTTTCGTCTGTGGCAGGCTGGCGTCACCCACTTACAGAGGGTGCTGGGCGAAGTGTCGGGGAGCTCAGGTCCCAAGGCAGAGACCCCTGACCAGTGGTGGGGATCAGAGAAGAGAACCACTGCCATGGGCAATGTGCCTGGGGCCACCATTGTAGATGGTCTTTCCTATCACACACATCTTTGGTGACAATAGCAGC
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GACACATTCCAGCTGTGAACTGAAGAATGTTTGTGGTTTGGCTAACGATGATTGGAGAAGGGGTTTCTAGGTGTGGGTGACTGCCTGAGCAACAGCCTGGTCGCAGGACAGTGTGGGACATGGCTGGGGCGTGGGCTGTGGTTTGAGGATAGAGCAGAGGGACCCTCTCTGTGGGTTTGGCTGCTGAAAGGAGAGCAGAGTCTAGATAGGGTGCCTGGGACTGGCTGGATTACAGAAGACTTGGGATAGCAGAAGGAGGAACTTGGACTTTGTCACCATGCAGTCAGGGGAAGCTGTGGAAGGTGTTAGAGCAGGGGAGTAGTAGAATTGGAGAAGACCCTCTGGAGGTGTGTGAGTGGGAGGATGGATGGGAAGGCATTTAAGCAAGGGAGCAGGGCTTTGAGCAGAGTTTGTGGGGAGGCAGACATCCTTTCTAGATGACTTGGTGGCCAAAGTGGAATTGTTTTTGTTTCAGGGACAGAAAGGGGACCCAGGGCTCTCACCAGGAAAGGCCCACGATGGGGCAAAGGTAGGTTTCCAGGGACCCCAGTTCTCAGGGAAGAGGGGAGTGGATGATAGTGAAATTGCCACACTTTAAAGCTAGCTGTCCTGCCAGAGGCCATGCATGGCAAAGGCAGGGAGGTGGGAACATCTGGAAGGGTTAGGGTATGGTTTGGTTTTTTCCTTGAAGTCCTTTAGCCTTTCCCAACACCAAACCCACCCAAGGTTATTCCCAGCCACCTTCTTTCCAGAATGCAACCAACAAAACTGACAAAAGATTTCTCCTATGGACACACGCTTGGTGAATGTCCTTTTGCCTAATGTCCTGCATGGCTTTCTGCGGGGTCTGCTAGGTGACTGTGGGCATCCAGAAGTTTCTTGGTAGCACATGGCCAGGAAGCTTCCAATAGACACTCAAAGCCTTTGCTGAGGTTAACTCCAGCAGACGGGTCTGTGGATTTCTAGGAGGCTAGAGATTCAGGGCTCCCTAACTCTGAAGGGCTATGAAACCAGGCTTGCCTGCAGAAGGAAAAACACTTTGGCTAAAGGCCTTCATCCGTCTCTGAAGCATCCACCCCATAAACTGAGCAAGGGACTTGGAGGGAGTGCAGGACAGATGGGAAGAGGGGAGCCCAGAACTCCAAATGAGATTGTCCAGTGTGTCAGTCTTCCAGGCACACACACCCTGGAAGCAATGCCCAGGTCTGCCTGACTTCCTTCTGGACACAGCCCCAGAGCCATCCTGATGGATGGAACACTGCTTCTCAGCCCAGCCTCCTGTGCTTAAAGGCACCTAGAATTGGCTGCTTTCTTTGATTTCCCCAAGACACGAGTTGCTTATTTCTTCACATCCTCACTGCTAGGTGTTTGCACTTAGCACATATTTACTGGGTGACCCAGGGTCCCAGGAGAGTGTTCCCATATACTACCACTTGACCCCCATCATACCCCATGAGCCAGGACAGACGGGCCCAGCTTACAAATGAGAAAACGGAGGCCTAGGCAGGGGTGGCTTGCTGGAGGTCATGCAGCTGATAAGTGGCAAAATGAGATCGGCACCCAGGAGCCCAGGCTTCCCTCCTGCTCCTGTGTGGCCTGTTCTCAGGTCTTGGGGTGGTGGCAGAAATGCCCCCTGCTTGGCCAGTGGCATGCCCAGCAATGGAAGGTGTCTTAGGACTGCAGGGAGAGATGGCTGATTGATATGGGACTGATAAGGCACATGTCCTCTGGAGCATAGTTTTCAAACGTGGTTTTAGTATCGGAACCCATTCTTCAAGTGGTGTCTTCTGCTGAAGCCCAGTATGTAAAATAGATCAGATGGAGCCGCTGAGTTGAGTGGGGAAGGGGCTGGGTACACCACTCACTCTTCTTGCTGGGCAGCCCCCGAGTCTCCTCTGAGGCCTCTACTTCTCTATGAATCTCATTTGGAAACAACCAGCCATTGGAAGTTACCATTCCAATTTGTAGAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTCGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCAGGTCTTCAGGCAGAAGAGCTGTGGGCCCACCTGCCTCTCCCCAGCCCCAGCCCAGCTCCCCTGGGCACAGGGTACATGGGTGAGAGGTGAGAGAGCTTTCCAAGGGTTGTGCCTGTTGAGGGCAGGGAATACCTCGGCTCGTAGTAGGTGCCTCCCACCACGGTTAATGAGGTAGCATAGGAAGTATCCTTGGTTTGCTGTCCTTCCTTTTGGGGGCCCAGCCGCTCCCAGGGAGGCCACCTTCAAGAAAGCCTGTGGTGATGGAGTAACCTGTGCTGGCCCTGGCTCCACCACCCACTGTCTGAGAGGCCGTGGGCCTGCGAGTCCTGTCTCTGCCCCTCAGCCTCCTCCTACATGAGATGGAGACAATGATCCCCGTCTCTGACCCTGCACAGTCTGGGGCTGTGTGACCAGGAGCAAGGCCTGGAGCGGAGAAGTTGAGGGAGTGGACCCTGGGGTCAGTTGGACCTGGGTCCTACTCCTGCTTCTGCCATTTCCTGGCTGGGTGACCTTGGGCAAGTCAGTGAGCTCTCAGAGTCTAATATGCGGCCCTCGCTGATGCTCTGCAGGGGAAGGGGAAGGGGAATGATCTGGAGAGGCAGTGGGTTCTCTCTATCTTGCTGGCTGTTGTTATGTCACGCCCATCCCATCCCCATTTCAGCCATGCTGGGGGAGTTACCTGTCCAAACGCCTGTGTGAGGAAAAGACTGGCATTTCCTGGGTAGTGGGTCTGTAACTTACAGTCCCCCTGGATTTCTGTGACTCCTCCAGCCTGTGTCTCCCTTCCTTCAAGACTCTACTCTAGTTGTGCCTACTCCAGGAAGTCCTCCTGGAGCACCCAGCTTCAGGCCATGAGGCTCCTCTCTGCTCAAGAACACTTAAGCTGTCTTGGCTTAGTTATTTTGAGCCACCAGGCATGCCTCACCAACCAGGGTGTGCAAATCTGGTTTATTGCTCTTCCTACTGAGCCTAGCATGAAGCCTGTGCATAGCAGGTGTTCAGGAAATGGGGGGAAGGCAATGCAGACTAAGGATCGATTGCTTTTTCCAAGAAAATCCCCAACCGCTGATGGATTGTCTGGTGAATCCATCGGCCTACCACTGTGTCTTAAGCTTCTGCCCTGGCTCCCAGCTGTGGCCACAGCTGAACTCTCTCTAGGCCATCTGGCTCTCATCTGGACAGCTGGGGTGTCTCCCAGCTCCATCCTGTTCTTGCCTTGAGAGCCCCATGACACAGGGGGCCTTGCAGGACCTCGTTCCCCCATTCCCTTCTCCATGGCCAGAGCAGGCCATACCTTCAACCTGAGAGGCCCACCCCAGAAGCAGTGGCTGTTTGTGAGCTGGGAAACATGGTCCTTTCTGGCTCACAGAACACAGAGGGACTTGCGCTCCCCACTTACTTCCTCTCTGGGCTCTAGCGCTTTCTGATGGATGAGGTGTGAGTGGAAAAGGCTCCTTCCGGTCCCAGCTCATAAAGCAGCCTCGGGTGGTCTTGTTCTGCATGGGGGTGGCAGCCTAGCAGAGGTGGCAGGAGATGGGGAAACCAGACTGGAACCAGCTCCTCCCTGGGGTGCCAGGGCTCCTTGCATTAAGCAGATGTCCGGGGAGGCCAAGGACCCCCAACCAAGAGGAGCCAACTCACCTGAGCAGGGAGAGGCAGCTTCTCCAAGTTAAGGAAAAGCCACTGCGCAGCTGGAAAACTATTTGGCAAAGCCAATTGCTCTGAGCTCCCCTCTGGCCCTGGCCTAGACATGCACAGAAGAGTTTCGTCTGTGGCAGGCTGGCGTCACCCACTTACAGAGGGTGCTGGGCGAAGTGTCGGGGAGCTCAGGTCCCAAGGCAGAGACCCCTGACCAGTGGTGGGGATCAGAGAAGAGAACCACTGCCATGGGCAATGTGCCTGGGGCCACCATTGTAGATGGTCTTTCCTATCACACACATCTTTGGTGACAATAGCAGC
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Task1_train_13107
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The gene COL27A1 (collagen type XXVII alpha 1 chain) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Steel syndrome
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CCCAAAGTTCAGAGGCCAGAGGTGGGAACTCAATGCCTTCAGAAGGTGCCCTGGCTGGACGCCATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCTTGGGCAACATGGAGAAACCCCATCTTTACCAAAAATACAAAAATTAGCCAGGTGTAGTGGTGTGCATCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGCAGGATCACTAGGAGGCAGAGGTTGCAGTGAGCAGTTATCACACCACTGCACTTCAGCCTGGATGACAGAGTGAGACCCTGTATCATGAAAAAAAAAGAAGGATCCCCTGGACACAGCCCACCTGGCTGATTCTTGTCCCAGGAGGTGAGACGATCTACCTTCAGCATGACCAAGAAGAGCTGGTTTAGGTGAGACTGGAATTTACCAGGGGAGACCCTAAAGATGTGGGGGAGGAAGCTTGGGTAAGGTCAGATATGCCCCCACAAAGACATGATCTGGAAACACACACACACCCTCCCCTGCCACACTCCTCTGCCACCCTCTGCAACCAGTTGGACACGCGTTTGAGCAGCTTCTACATACCAGGCTTTGCCCGTGCATAGCTCATATGAACATGCCAAACTCCAGAGGTGGACCTGGGCTCTGCTTGCTTTATGACCTTGGCCATGTGATGTTGCCTAACCGAGTCTCAATTTTCCCATCTGTGAAATGGGACTGATAACTTTTCCCTCAAAGATAGATATCAAATGCAAAATGAAGTCTTGCATGCAAAGTGACTACCTTGGTCTGAATTTCATTATCGTCTTCTCGTTTCCTCCTTTTGGTGTCTGAATGAAGCCACACCTTCTATGGGGTGAATGTCAATCCAAGAGGACTTCCTGGCAGGGGAGAGATTTAAAGGGAGTAGGGCTGCGGGGCAGGGCCAGGCTAAACACCTGGTTACATACACACATTTCAAGGTGTCTTTGCCTAACCAGTAGAGACTTTGGTTTGGGTTTTGTTTGTAGGTTTGGTCTTTTGGGTTTAGTGTACTCACTGGACTCCTCCAGTAGTATTAGAAACCGAAAACAGGATCATCCTCCATGAGGAATGTTTACCATTTGAATCATAGCCCCAGCATTCACTTGGTCAGGAAAACATGTGCTTTGTTTTTTTTTTTTTTTAATTACATTTCCCTGGAAAAACAATGATTTGAATTCAAGGAGGGGAGGAGAACAGGTTTCCCCCAACTCCAAGCTTGAGGACTTTCTTTTCCTTTTGAAGTAGGAATGGAGTTCTGTCCCCGGCCCCCGAAGGCGTCCTTACAGCTGATATTTTTCCAGCTGCCTATCTCCCCAGAGCGTGGAGCGGCCTCCAGAGTGGGGTCAGGGATGGGGCGAGAGGGCCAGACCTGCCTGGGCCGGGCAGCTCAGCATCTCTCTGAGCTGCTGAACACCTATGGAGGCTGTGCTCATGTTCACTGGTGGTGTGACTTTGTGTGACCTTGCCACTTCACTCTTTCACAGCCTCGTTTCCTTTATCTGTCAAATGGGGATCATGAGTTCACTGGGTGGCTTTTGAAGAACGTGCCACAATCAGAGAAGGTCTGAGCTGGGAAATGCAACAGAGGCCTTCTCCTCCTTGACCAGTGGGGAAACAGAGGCTCTTAAAACTGGCATAGATCCAGCTTCCTGCCCCTAGTCTCTGTCTTTCCCATTCCATCAGGACCAGATCTCAGAATAGGGGATTGGCATTTTCATGCTGGGGAGCTGGGTATCATTTTCTTTTCAGAGACTTAGTAGAAAATAAAAGGATCCCTGAGAAATTCTTTATGTTCAGGTGCTTGTCGATGGTAGGGGTGACCTCAGGACCGCACTGTCTGCCCATGACCAAGGAGTGAGACTGCTTGGACATTGTCCTTGTGTCCCCCCTGGGGGTCTGGATCAAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAGCAGATTTTAGGAGCCCACGCTTTAGGGTCAGACAGACCTGGGTCAAATCCCAGCCCTGTGAAGTACCAGCTGGGCACCCTTGGACAAATTACATGACGTCTCTAAACGCTAGGCTCCTGTCTACTGCGGCTGCACCGTCGCCCCCCTGTAAGAGTCCCCAGCCCACTGAGCCCCTGGGTCCAAAGCTCCAGGCTGCACCCCATTTCCAGGACTTTGGAAGGTTCATGGGTCACTCCCCACTGGAGAGGCCCCAGCTGCTGCCATCTTACACAGCATCAGCAATGTTTATGGGCCGGCAGAGGCATGGGGAAGCAAACGGTCTGCAGGCCGTGTTTGGAGAAAAGGAAGAGCTGAGTTCCAAAGGAATCTCCACCACAGGCATGTTTATAGAGTTTGTAAATAATTAGAGGCCCAGGCTCTGTTCCCCGAGGAGCCAGGTCAGCCTGCCCTGGGGAGCCGAGTCTGTCTTTCCCTTCCCAGCTCCAGGCCCTGGTGGGAGAAGGTGTTCATGGTTCCCCATCTCCCCCTGGGGCTTCCTGCCTGAGCAGCTGTGCCAGCTGTGCCCTCTGCAGTGGTGGCTGCTGCGTTCATAACCAGCACCCGATTAGGCGCTAATTCAGTTCCACAAATGCTCCCTGAGCCTGACCCAGCCAGGCTCCCTTGGGGATTATAGCCTTGACCTCAGAACCCTGCGGACCTGGGTTTGAATTTTGTTGTACCACTTGTCAGGTGTGTGAGCTTGGAAAAATCCATTCACCTCCCTGAATCTCAGTTTCCTTGTCTGCAAATTGGGGGGATCAGAATTCCAGCCTGAGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCTAGATCACTTGAGGCCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCATCTGTAATCCCAGGTACTTGGGAGGCTGATGGGGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTACACTCCAGCCTGGGCAAGAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGCCGTTGTGAGAATGACAGGAGGGCAGCCAAGGTGTTGCCTCATCACACAGGTTCAGTGGGTGAGGCTGTGTAAAATACTGGGTAATCCGGGGTATAGTCCTGCCTTTGAGGAGTTCATGGGCCATTGCCCTCCTCTGTCACACAACAGGCAGTGGGATGGGTGGGATCAGAGAGGTCCCAGGTGCCTCTTTGGAGAAGGGAACAGGGAAGTAACATTTGCATTGGGATGAGGAGATAGGTGGGGAGACATTGCAGGTGGAGGAAGGGGCACCAGCAAAGGCATGGGGTGAGGGGAAACCAGAGCCTCTCCCTCAATACAGCATTTGTTAGATTAACTATTAGCGATATGCAGTATCATTCTGCGAGTTTCCTTGGCGAGCGGCAGGGATGTCTTTATGCTGCTGGCATAGAGGAACAGAAAAGACCTGATGTCCATTTCTTCCTCTCATTTGAAGTGAAGGCTGTTGCTTACTTCTCATTGCTAATTACAATGTCTAGAGCCCTGGAGTTTTATTCTCACTTTTCCATTTTGAACTTGACTCAAACCCTTCCACCTGTCATTTCTCATGTGGGCCATGGAAGATCCATGTTTAAGACGAGAAAACTGAGGTATAGGGGGATAAATCACACACACAGCCTCGTCTCCTGACTCCCAGGCTAGAACTCTTTCCAGTCTCTGGGGGCCCCTGGAAGAAGGAAATGTGAGGGTGTGGGGTGCTGGGGAGGATTCTCCAAGGGCCACAGCACCTCCCGGCTGAGAAAGGGAAGGAGGCTGGCTTAGAGGCTCTCAGCTTGGAGCCCTCATGGCTTTGTCATTTCCTTGCACCTGGCCTTGGGTGAATCACTTAACCTCTGGAGC
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CCCAAAGTTCAGAGGCCAGAGGTGGGAACTCAATGCCTTCAGAAGGTGCCCTGGCTGGACGCCATGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGCAGATCGCTTGAGCCCAGGAGTTCGAGACCAGCTTGGGCAACATGGAGAAACCCCATCTTTACCAAAAATACAAAAATTAGCCAGGTGTAGTGGTGTGCATCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGCAGGATCACTAGGAGGCAGAGGTTGCAGTGAGCAGTTATCACACCACTGCACTTCAGCCTGGATGACAGAGTGAGACCCTGTATCATGAAAAAAAAAGAAGGATCCCCTGGACACAGCCCACCTGGCTGATTCTTGTCCCAGGAGGTGAGACGATCTACCTTCAGCATGACCAAGAAGAGCTGGTTTAGGTGAGACTGGAATTTACCAGGGGAGACCCTAAAGATGTGGGGGAGGAAGCTTGGGTAAGGTCAGATATGCCCCCACAAAGACATGATCTGGAAACACACACACACCCTCCCCTGCCACACTCCTCTGCCACCCTCTGCAACCAGTTGGACACGCGTTTGAGCAGCTTCTACATACCAGGCTTTGCCCGTGCATAGCTCATATGAACATGCCAAACTCCAGAGGTGGACCTGGGCTCTGCTTGCTTTATGACCTTGGCCATGTGATGTTGCCTAACCGAGTCTCAATTTTCCCATCTGTGAAATGGGACTGATAACTTTTCCCTCAAAGATAGATATCAAATGCAAAATGAAGTCTTGCATGCAAAGTGACTACCTTGGTCTGAATTTCATTATCGTCTTCTCGTTTCCTCCTTTTGGTGTCTGAATGAAGCCACACCTTCTATGGGGTGAATGTCAATCCAAGAGGACTTCCTGGCAGGGGAGAGATTTAAAGGGAGTAGGGCTGCGGGGCAGGGCCAGGCTAAACACCTGGTTACATACACACATTTCAAGGTGTCTTTGCCTAACCAGTAGAGACTTTGGTTTGGGTTTTGTTTGTAGGTTTGGTCTTTTGGGTTTAGTGTACTCACTGGACTCCTCCAGTAGTATTAGAAACCGAAAACAGGATCATCCTCCATGAGGAATGTTTACCATTTGAATCATAGCCCCAGCATTCACTTGGTCAGGAAAACATGTGCTTTGTTTTTTTTTTTTTTTAATTACATTTCCCTGGAAAAACAATGATTTGAATTCAAGGAGGGGAGGAGAACAGGTTTCCCCCAACTCCAAGCTTGAGGACTTTCTTTTCCTTTTGAAGTAGGAATGGAGTTCTGTCCCCGGCCCCCGAAGGCGTCCTTACAGCTGATATTTTTCCAGCTGCCTATCTCCCCAGAGCGTGGAGCGGCCTCCAGAGTGGGGTCAGGGATGGGGCGAGAGGGCCAGACCTGCCTGGGCCGGGCAGCTCAGCATCTCTCTGAGCTGCTGAACACCTATGGAGGCTGTGCTCATGTTCACTGGTGGTGTGACTTTGTGTGACCTTGCCACTTCACTCTTTCACAGCCTCGTTTCCTTTATCTGTCAAATGGGGATCATGAGTTCACTGGGTGGCTTTTGAAGAACGTGCCACAATCAGAGAAGGTCTGAGCTGGGAAATGCAACAGAGGCCTTCTCCTCCTTGACCAGTGGGGAAACAGAGGCTCTTAAAACTGGCATAGATCCAGCTTCCTGCCCCTAGTCTCTGTCTTTCCCATTCCATCAGGACCAGATCTCAGAATAGGGGATTGGCATTTTCATGCTGGGGAGCTGGGTATCATTTTCTTTTCAGAGACTTAGTAGAAAATAAAAGGATCCCTGAGAAATTCTTTATGTTCAGGTGCTTGTCGATGGTAGGGGTGACCTCAGGACCGCACTGTCTGCCCATGACCAAGGAGTGAGACTGCTTGGACATTGTCCTTGTGTCCCCCCTGGGGGTCTGGATCAAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGAACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAGCAGATTTTAGGAGCCCACGCTTTAGGGTCAGACAGACCTGGGTCAAATCCCAGCCCTGTGAAGTACCAGCTGGGCACCCTTGGACAAATTACATGACGTCTCTAAACGCTAGGCTCCTGTCTACTGCGGCTGCACCGTCGCCCCCCTGTAAGAGTCCCCAGCCCACTGAGCCCCTGGGTCCAAAGCTCCAGGCTGCACCCCATTTCCAGGACTTTGGAAGGTTCATGGGTCACTCCCCACTGGAGAGGCCCCAGCTGCTGCCATCTTACACAGCATCAGCAATGTTTATGGGCCGGCAGAGGCATGGGGAAGCAAACGGTCTGCAGGCCGTGTTTGGAGAAAAGGAAGAGCTGAGTTCCAAAGGAATCTCCACCACAGGCATGTTTATAGAGTTTGTAAATAATTAGAGGCCCAGGCTCTGTTCCCCGAGGAGCCAGGTCAGCCTGCCCTGGGGAGCCGAGTCTGTCTTTCCCTTCCCAGCTCCAGGCCCTGGTGGGAGAAGGTGTTCATGGTTCCCCATCTCCCCCTGGGGCTTCCTGCCTGAGCAGCTGTGCCAGCTGTGCCCTCTGCAGTGGTGGCTGCTGCGTTCATAACCAGCACCCGATTAGGCGCTAATTCAGTTCCACAAATGCTCCCTGAGCCTGACCCAGCCAGGCTCCCTTGGGGATTATAGCCTTGACCTCAGAACCCTGCGGACCTGGGTTTGAATTTTGTTGTACCACTTGTCAGGTGTGTGAGCTTGGAAAAATCCATTCACCTCCCTGAATCTCAGTTTCCTTGTCTGCAAATTGGGGGGATCAGAATTCCAGCCTGAGGCCGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGCTAGATCACTTGAGGCCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGGCATCTGTAATCCCAGGTACTTGGGAGGCTGATGGGGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTACACTCCAGCCTGGGCAAGAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGCCGTTGTGAGAATGACAGGAGGGCAGCCAAGGTGTTGCCTCATCACACAGGTTCAGTGGGTGAGGCTGTGTAAAATACTGGGTAATCCGGGGTATAGTCCTGCCTTTGAGGAGTTCATGGGCCATTGCCCTCCTCTGTCACACAACAGGCAGTGGGATGGGTGGGATCAGAGAGGTCCCAGGTGCCTCTTTGGAGAAGGGAACAGGGAAGTAACATTTGCATTGGGATGAGGAGATAGGTGGGGAGACATTGCAGGTGGAGGAAGGGGCACCAGCAAAGGCATGGGGTGAGGGGAAACCAGAGCCTCTCCCTCAATACAGCATTTGTTAGATTAACTATTAGCGATATGCAGTATCATTCTGCGAGTTTCCTTGGCGAGCGGCAGGGATGTCTTTATGCTGCTGGCATAGAGGAACAGAAAAGACCTGATGTCCATTTCTTCCTCTCATTTGAAGTGAAGGCTGTTGCTTACTTCTCATTGCTAATTACAATGTCTAGAGCCCTGGAGTTTTATTCTCACTTTTCCATTTTGAACTTGACTCAAACCCTTCCACCTGTCATTTCTCATGTGGGCCATGGAAGATCCATGTTTAAGACGAGAAAACTGAGGTATAGGGGGATAAATCACACACACAGCCTCGTCTCCTGACTCCCAGGCTAGAACTCTTTCCAGTCTCTGGGGGCCCCTGGAAGAAGGAAATGTGAGGGTGTGGGGTGCTGGGGAGGATTCTCCAAGGGCCACAGCACCTCCCGGCTGAGAAAGGGAAGGAGGCTGGCTTAGAGGCTCTCAGCTTGGAGCCCTCATGGCTTTGTCATTTCCTTGCACCTGGCCTTGGGTGAATCACTTAACCTCTGGAGC
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Task1_train_13108
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Located on Chromosome 9, this mutation impacts TNC (tenascin C). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 56
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CTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATGATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTGCAGGTGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTCAGTAGAGATGGGTTTTTTCACCATGTTGGCTAGGCTGGTCTTGAACACCTGACCTCAGGTGATCCACCTTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCACCTGGCCCCGAGCCTTTTCTGAGCTTTGAGTGGTATTTCTCCTTAGATGGCTTGCAGAGAACATAAAGCCAGGCTCTGGAGGCCGGTGGTCCCGGGTTCTACCATGGCTTCTCTGCCTGGTGCCTCTGTGCCCTGGGAAAATTCATTTCCCTTCTCCAAACTTCACTTTCTTCAGCTGCCAAAGGGTGACTGTTTAGTTAATAAAGACTAGCTAAGCAATGTGTGATGTGTAAGATGTACTAGGGAAAGCTCTCAATACTTGCAGTTGTTATTAAGATCTCTATTAAAGGTATTTGAAGTCTTAAGTATGGTTTTCAAATGACTTGTTCTGAGAAAGGATGGATATTCAAAGGATATTTATCCCTGGCCTCTTTTAACTGACCTCTCCTACTACCCAACATCACTTTCTCAGAAGCCAGCATGAATCTGACCATTTCCTCTTGCTTTTGCACTTACTACTCAATTGTGCCCATGCCAGCAGCCCTGGCGAGGGTGGAGGGAAGCTATCCTCAGCTCATTTCACAGAGAGGCACCTGAGCCTTGAGGGATGAAATGACTGGTCTGAGAGCCAGGATGTGGCAGGGCAACTGGGGAGCCCACATTGTCCACTCTGAGTTCCTTCCTGCTTCACTGTGCATGGACAGAATCTCCTTTAACTGGTGATGACAATGGGGCATTGGGAGGAACTACGTTCAGCTTTTGCCATCTGTTGCCGTGGAGAATCCACTGATGAAAGATTTCTTTGGGGAAATAAGGGCCTGTGAGGCAGGGTGGACGGGACTCTGGGTTCAGATGGGATATTTTAATTGTGTGTTGTCAACTCTTTCAGGCTATGAGGATATTTTTAAAATTTCCTATGAGGTCTATTCTTTGTATCCCTTAATGAGTTGGACTGGATAATTGCTCACATATCAAAGGATAAATTGTTTTGAGACATGGCTGTCTGAAGAGAAATTTTCCACTTCATTCTCCTTCAATGCAATTCATTATTTTCCCCTCTTTACAGTGTACTGTACAAATCAGGTTACACTAGGAAAGGAACTCTTTATTTTAGAAGGATAGAGAGTTTGGAGTCAGACCGACCTATGTTCAAATTTGGTTCCAGCATTTACTAATTATGTGGGCTTGGCCAAGGTATTTCATTTGTCTCAGTTGTCTCCTCTGTAAAATGGGGATGATAATAGCTGTGGGGATTAAATGTGAAGGGTTTAGTAACAGTGCCTGGAATGCAAGAGCCACCAAATAGAGAGGAGCTGTTTTGTAGCTGTCACCATCACATGCTCATGTGAAACACCTGCTTTGAGGGACACTCACAAGGGTTCCAGGCAATAGGCGGGGAGGTGAAGGTGATGGTGGGCTAACATGAACAATTGTATTTCAGGATGCTTTACAAACACAGCTTCATGTGATCCTTACCATACCCTGTGAGGGAAGCAGAATTGTGTCTGTTTTACAGAGAAGGAAAGTGGACCCTAGTAAAATGGACTGATAGCTCATGTAGTTGGTAGAATTTGGATTTAAATTCAGGTAAGTATGACTCCCAAACTTGGACTTTTTCTTTCACAATAGTCCAGGAAATGGAGGCCCAACAAGGTTAAGGTCACCCAGCTCACCAGAGGCTGGGATGGGCCAGAAGAGAGGCCTCTGGCACTCTAAATCCAGTTCACTTTCCACTAGGATCTCATAAATAAAACCCCCCTTTTTTTCCAGCTGCTGAGTCATGAGCTACAAGGCTGAAGGTGAGAAATGGCATAGGATGCACAAGTGACCTCTGAAAAATAGTAACACACACACACACACACAACCCCACCAACTCACCTGTGGTGAATGACCCTGAGACAGGTTCACTTTCCTCAAAGCCCTTCATGGCGATGATGCTGACAAGGTACTCCACGCCAGGTATGAGTTTCACCAGCCTGGTCTGAGTCTTGGTTCCGTCCACAGTTACCATGGAGGGTGTACCTGGAACACAGTAAAAGCAAGATGAGGAATAATGAACCTCACTGACACTTATTCACTGTTGCCCCCAAAAAGAGTGTATCTGATTTAGAAATGAAACTATATCTTCATCAAACACCACTTTCTTGACTTCTCATTTGCTCCTACCCTCTGGCATAAGGGAAGAAGGCTTACTTTTTGTATGCTTTTTCTATTGGTGCAGATGCCAAAAACAAAGCCAGGAGGGGCGGGGGAAAACATGAAGTCACAACGTACTAAAAATGGCAAGTTTCCGTTCAGTAGAGAGCTGGCACGTTGTGCAAATTTTATCTTATTATTTTTCCCCACAAACAATATGGGAAGCTTACTATGTAATGTATGTCAGATCTATTGCACCCATTGTCTTGGCTTAGGATTATAGACTCCCTTACTAGAGGAAATTCTACTTAAGAAAAGAAAGTTGATTATAGTCAAGTTTGTGCTGCAGTGTTTATTAATAAACACAGAAATTGTATTTCTTAGAATTTGGGGGCTAGTGAAGAACTTGCACATCAGCTGGTCAGACTTCCTATAGAGACAAAACAGCATTCCTGTGAAGAGGTTATTAACCATCCTCTCTTTATACACTTTCAGCAACAGGTAGCTTACTACCTGCCAGAGTGTCTTTAGGCAGATTTGACTGGGCTTCCTCCTTGTGGTCTCTATTATAGCCCATGCGCTTTGAGTTAGAACTCACAAATTTTCTAAGGCACAGCTTGCCATCATTTGCTGAGACAGACAGATTTGGTACCCAAAGGTAAAACTTCACATATATCCAAGACTAGCTTTTCAGATGAGTGTGCGCAGGGAGAGAAATGCCAATATATTTAGAATCTTTTGCCATTGTGTGCAAACAATACTAGAGATCTATTTCTCATAGAATTTTATAATTTCAAGGTTAAAAAAGGTCTTGTTCAAGTGACCCTTCACAAGAAAGTTTCTTCTAAGAACCTCATAGCACTTTACAAATGAGTTCTCTTCTCTCCAGATGGTCTCACAAATAAAGAATTCATTTTCTTTGATCATGATGTTAGAGGATGAAAATTATCAGGGTCTTTTTCATGAATCCATCCAAACCCACAACACTCCTCCTCTCTCTCCCCTTTCCGAGTCTCCTACCTCCTGTAATGGGCACATAGGTAATCCGGAAGCTCTCCACTTGGGCTGTGGGTGCCCTCCAGCTGACAGTAGCCGAATTTTCAGTGATGTCTGAGAAAATGACTTCCTTTGGGGAGCCCATGGCTGTCAAGAAGAAAGCACAAGAGAAGCCCAGAAACAGTTAACTGTCTTGTTCATCAATGGTTCTTCCTGAATTCCTTATTTAGGAAAACTCAGTGCCTAGAATTTGTGTCTGAGCCAAGCCTTTAGGATGGAGAATGTGGTGATCTGTGGTTAAGTTGTGACTTGCTAGGACCAATTGTTTCATTTCAGGTACAGGGCCCAGGGTTGTAGAAAAGTCATTTGGTCTAATTCAAGGGGAGTGATAGGACCATAGCTGACTTCCAAGGAATCGTGGGAGAATGGTTTCCCAGATTGGAATGTGACCCCCGTTCATTTTTGATTTTTAACATTTTCTTAAATCTTTGCTTTCTAGTTCCTTTTATTAAATAATACTAAGACTTGACAACTGTACAGTTCTTTGCAATTTATAAGGCTTAATCCTCCTGTAGAAGCCCCCAAAAAGATGTGATTATAGCCATTTTACAGAGAACCAAACCAAGGCTTCCATGAACATTCTTGTGATGTGATCTTTCTGGGTCCCAGGAGTAGGCAGCAGAGCCAAGCACAGCCTGGAATCCTGGAAATAACGTTCACACAAACACTGACCTGGGCAAACCCATTCCTAGAACTGGAAGGAGGTCCAAAGCCAAGAGAACAACCTCAGGCTCATCACC
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CTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATGATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTGCAGGTGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTCAGTAGAGATGGGTTTTTTCACCATGTTGGCTAGGCTGGTCTTGAACACCTGACCTCAGGTGATCCACCTTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCACCTGGCCCCGAGCCTTTTCTGAGCTTTGAGTGGTATTTCTCCTTAGATGGCTTGCAGAGAACATAAAGCCAGGCTCTGGAGGCCGGTGGTCCCGGGTTCTACCATGGCTTCTCTGCCTGGTGCCTCTGTGCCCTGGGAAAATTCATTTCCCTTCTCCAAACTTCACTTTCTTCAGCTGCCAAAGGGTGACTGTTTAGTTAATAAAGACTAGCTAAGCAATGTGTGATGTGTAAGATGTACTAGGGAAAGCTCTCAATACTTGCAGTTGTTATTAAGATCTCTATTAAAGGTATTTGAAGTCTTAAGTATGGTTTTCAAATGACTTGTTCTGAGAAAGGATGGATATTCAAAGGATATTTATCCCTGGCCTCTTTTAACTGACCTCTCCTACTACCCAACATCACTTTCTCAGAAGCCAGCATGAATCTGACCATTTCCTCTTGCTTTTGCACTTACTACTCAATTGTGCCCATGCCAGCAGCCCTGGCGAGGGTGGAGGGAAGCTATCCTCAGCTCATTTCACAGAGAGGCACCTGAGCCTTGAGGGATGAAATGACTGGTCTGAGAGCCAGGATGTGGCAGGGCAACTGGGGAGCCCACATTGTCCACTCTGAGTTCCTTCCTGCTTCACTGTGCATGGACAGAATCTCCTTTAACTGGTGATGACAATGGGGCATTGGGAGGAACTACGTTCAGCTTTTGCCATCTGTTGCCGTGGAGAATCCACTGATGAAAGATTTCTTTGGGGAAATAAGGGCCTGTGAGGCAGGGTGGACGGGACTCTGGGTTCAGATGGGATATTTTAATTGTGTGTTGTCAACTCTTTCAGGCTATGAGGATATTTTTAAAATTTCCTATGAGGTCTATTCTTTGTATCCCTTAATGAGTTGGACTGGATAATTGCTCACATATCAAAGGATAAATTGTTTTGAGACATGGCTGTCTGAAGAGAAATTTTCCACTTCATTCTCCTTCAATGCAATTCATTATTTTCCCCTCTTTACAGTGTACTGTACAAATCAGGTTACACTAGGAAAGGAACTCTTTATTTTAGAAGGATAGAGAGTTTGGAGTCAGACCGACCTATGTTCAAATTTGGTTCCAGCATTTACTAATTATGTGGGCTTGGCCAAGGTATTTCATTTGTCTCAGTTGTCTCCTCTGTAAAATGGGGATGATAATAGCTGTGGGGATTAAATGTGAAGGGTTTAGTAACAGTGCCTGGAATGCAAGAGCCACCAAATAGAGAGGAGCTGTTTTGTAGCTGTCACCATCACATGCTCATGTGAAACACCTGCTTTGAGGGACACTCACAAGGGTTCCAGGCAATAGGCGGGGAGGTGAAGGTGATGGTGGGCTAACATGAACAATTGTATTTCAGGATGCTTTACAAACACAGCTTCATGTGATCCTTACCATACCCTGTGAGGGAAGCAGAATTGTGTCTGTTTTACAGAGAAGGAAAGTGGACCCTAGTAAAATGGACTGATAGCTCATGTAGTTGGTAGAATTTGGATTTAAATTCAGGTAAGTATGACTCCCAAACTTGGACTTTTTCTTTCACAATAGTCCAGGAAATGGAGGCCCAACAAGGTTAAGGTCACCCAGCTCACCAGAGGCTGGGATGGGCCAGAAGAGAGGCCTCTGGCACTCTAAATCCAGTTCACTTTCCACTAGGATCTCATAAATAAAACCCCCCTTTTTTTCCAGCTGCTGAGTCATGAGCTACAAGGCTGAAGGTGAGAAATGGCATAGGATGCACAAGTGACCTCTGAAAAATAGTAACACACACACACACACACAACCCCACCAACTCACCTGTGGAGAATGACCCTGAGACAGGTTCACTTTCCTCAAAGCCCTTCATGGCGATGATGCTGACAAGGTACTCCACGCCAGGTATGAGTTTCACCAGCCTGGTCTGAGTCTTGGTTCCGTCCACAGTTACCATGGAGGGTGTACCTGGAACACAGTAAAAGCAAGATGAGGAATAATGAACCTCACTGACACTTATTCACTGTTGCCCCCAAAAAGAGTGTATCTGATTTAGAAATGAAACTATATCTTCATCAAACACCACTTTCTTGACTTCTCATTTGCTCCTACCCTCTGGCATAAGGGAAGAAGGCTTACTTTTTGTATGCTTTTTCTATTGGTGCAGATGCCAAAAACAAAGCCAGGAGGGGCGGGGGAAAACATGAAGTCACAACGTACTAAAAATGGCAAGTTTCCGTTCAGTAGAGAGCTGGCACGTTGTGCAAATTTTATCTTATTATTTTTCCCCACAAACAATATGGGAAGCTTACTATGTAATGTATGTCAGATCTATTGCACCCATTGTCTTGGCTTAGGATTATAGACTCCCTTACTAGAGGAAATTCTACTTAAGAAAAGAAAGTTGATTATAGTCAAGTTTGTGCTGCAGTGTTTATTAATAAACACAGAAATTGTATTTCTTAGAATTTGGGGGCTAGTGAAGAACTTGCACATCAGCTGGTCAGACTTCCTATAGAGACAAAACAGCATTCCTGTGAAGAGGTTATTAACCATCCTCTCTTTATACACTTTCAGCAACAGGTAGCTTACTACCTGCCAGAGTGTCTTTAGGCAGATTTGACTGGGCTTCCTCCTTGTGGTCTCTATTATAGCCCATGCGCTTTGAGTTAGAACTCACAAATTTTCTAAGGCACAGCTTGCCATCATTTGCTGAGACAGACAGATTTGGTACCCAAAGGTAAAACTTCACATATATCCAAGACTAGCTTTTCAGATGAGTGTGCGCAGGGAGAGAAATGCCAATATATTTAGAATCTTTTGCCATTGTGTGCAAACAATACTAGAGATCTATTTCTCATAGAATTTTATAATTTCAAGGTTAAAAAAGGTCTTGTTCAAGTGACCCTTCACAAGAAAGTTTCTTCTAAGAACCTCATAGCACTTTACAAATGAGTTCTCTTCTCTCCAGATGGTCTCACAAATAAAGAATTCATTTTCTTTGATCATGATGTTAGAGGATGAAAATTATCAGGGTCTTTTTCATGAATCCATCCAAACCCACAACACTCCTCCTCTCTCTCCCCTTTCCGAGTCTCCTACCTCCTGTAATGGGCACATAGGTAATCCGGAAGCTCTCCACTTGGGCTGTGGGTGCCCTCCAGCTGACAGTAGCCGAATTTTCAGTGATGTCTGAGAAAATGACTTCCTTTGGGGAGCCCATGGCTGTCAAGAAGAAAGCACAAGAGAAGCCCAGAAACAGTTAACTGTCTTGTTCATCAATGGTTCTTCCTGAATTCCTTATTTAGGAAAACTCAGTGCCTAGAATTTGTGTCTGAGCCAAGCCTTTAGGATGGAGAATGTGGTGATCTGTGGTTAAGTTGTGACTTGCTAGGACCAATTGTTTCATTTCAGGTACAGGGCCCAGGGTTGTAGAAAAGTCATTTGGTCTAATTCAAGGGGAGTGATAGGACCATAGCTGACTTCCAAGGAATCGTGGGAGAATGGTTTCCCAGATTGGAATGTGACCCCCGTTCATTTTTGATTTTTAACATTTTCTTAAATCTTTGCTTTCTAGTTCCTTTTATTAAATAATACTAAGACTTGACAACTGTACAGTTCTTTGCAATTTATAAGGCTTAATCCTCCTGTAGAAGCCCCCAAAAAGATGTGATTATAGCCATTTTACAGAGAACCAAACCAAGGCTTCCATGAACATTCTTGTGATGTGATCTTTCTGGGTCCCAGGAGTAGGCAGCAGAGCCAAGCACAGCCTGGAATCCTGGAAATAACGTTCACACAAACACTGACCTGGGCAAACCCATTCCTAGAACTGGAAGGAGGTCCAAAGCCAAGAGAACAACCTCAGGCTCATCACC
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Task1_train_13109
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A variant found in Chromosome 9 affects ASTN2, TRIM32 (astrotactin 2| tripartite motif containing 32). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Bardet-Biedl syndrome
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CCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACC
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CCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCTTTTATAAAGTTTGAATATCTGAAGAGCAGGATCTGTATCCTAAAGACCTCTTGTATCTAGTACAGAACAAGATACCTAAACTTAGATGGGTGGATAGGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGACTTGCATGTTATACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGTCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACC
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Task1_train_13110
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Consider a variant on Chromosome 9 in gene ASTN2, TRIM32 (astrotactin 2| tripartite motif containing 32). Determine its clinical classification and disease relevance.
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Pathogenic; Bardet-Biedl syndrome
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCAATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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Task1_train_13111
|
This variant lies on Chromosome 9 and affects the gene ASTN2, TRIM32 (astrotactin 2| tripartite motif containing 32). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Myopathy
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCAATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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Task1_train_13112
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Gene ASTN2, TRIM32 (astrotactin 2| tripartite motif containing 32), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Retinal dystrophy
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCAATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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Task1_train_13113
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Given this variant in gene ASTN2, TRIM32 (astrotactin 2| tripartite motif containing 32) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Sarcotubular myopathy
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCAATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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Task1_train_13114
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Here is a variant affecting ASTN2, TRIM32 (astrotactin 2| tripartite motif containing 32) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Bardet-Biedl syndrome 11
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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ACTTATTCCTTTTACTGTGCATAATTCTCCTGTGCTTTTCTCTTAGTGTAAATCAGAAGTTGTAAAATTCACCAAATATGAAAATAATCATTAGCTCATTAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTCATAGCTATTCTCTAAATGTTTCTTGAGTGAATTTATTTATATAGTCAGAGGAAAATGAATAATGGTTTCTTTTTCTCTTTAGCAGGAATTTGACCCTCTAGGGCATGAATACTGTGCTGTTCAGTTCTGAGCTGTGCTAGCAATACCCTTCAAAGGAAGAGCAATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAAGCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTCCTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGCAAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGCTTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGGCTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCACTGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCTGGCCAGTTTGTAGTAACCAATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGAGGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACCTGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGGCAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAGCTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGCATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTCCATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTGGGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATCAAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAGGGGATGAGAAATTATCAGTTTCTTCTGCTCCCAAGCCAACTTCCCTTCCCTTAGTTCTTGGTTGTTAGTGGCACATGCAGAATAGACTCAGCCTATGTCCTGATTCCAGCTGGGTAGTTCTAGAACTTCAGAAGCTCCATCTTTTAATGTTTTTATTTGTTATGTCCCCCTCCCCGCTTCCCACCTAAATTTAGAGCTTTAAAAGATGCACTGCCCAAATAGGACACACGATGGTGTTAGCTGAAGTTTGATTAGCAATTAGGCACTTCCAAGGCTTTAGTAGAGAGAGCCACTTTAGCCCTTTGTGCCATGTTTGAAATTTGCCCTTGTATTAAATCCTTGATTTTTTCCCATTTGGCTTTGATGCCCTTGATCCATTGTTTCCTTCCTACTATAATGTGCTTCATCTGTGACACTTTCTCTTGAACTCTGATTGGATTCACTGTGCATGCTTCAGTGGGATCTGCTCCACCTTTCAGTGACATTTAAGACATCATATTCCCGTAACATTATGTCTCAGTCTGATCGTCTTTACCAGTATGAAAGTCATTCATTTAGTGCTACCAAAGGGGATACACAAGCCCTTTAGGAAGCAGTACCTCTCGCCTGGAGGATCTGTGCCATCTTGGATTGAGAATTGCAGATGTGACAGAATGGATTGACCCTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTTGCCTTTTAAAGAAGCATATATGGGTTGGAATTATGCCAAAGCATAGGAAGCTGGGAATAAGCAAACAAATGCTGATATAGTCAGCAAATTTGGATAGTCTCTAGGGCTCATCATTTTTCATACTACCTCTCTCTTCTGGCCTGTGTCTAAGGAATTGTACAACATAGGCCAGGGCCAACAAAGTGGAGAGGTGGACACATTTTCATGTTCATTACTAAAACAAACAGCAAAACTATTGGTTTGTTATTCTGTGTTTTCCTCAAGTCAGTACATACTATTTGGTTTCAGGATTTCTTTCCATTTCTCTATCAAGCATTAAATAATTGAGAACTGTTTCTTCATCTCTGGTGTTCATGTCTTTTAATTAAATACGGAATTTTGGAGATGATAAGAGGGATAACCTGCGCTATGCCATTTTGCTTCCTTATCTCACTGTGTTCTTTCAGAGTGTAGATATCTACCCAGGTCAAAATTCAGCCAAAAGCACTATTATGTAAAGATAATAATCCAAATCTTTCTCCCAAATACATGTGTACAGAATCATCCCCCAAGGTTTAGAGTCACCAATACCCTATTCTGAGCTTCTGCTGTATGTTTTATGTTTATAATTACAGTTCACAAAAAGGAAGTTAGTCTTGTTTTTAAGATCAGAAGTGGGTGAGAGGACCTGTGATGAGGTTCCTGAGGGTTTGGTGTTTACTAAGTAATATATCTTACTCTAGGTGCAGGGCTGATGGCAAGCCAAAGAGCAACTGCCTTACTTTGATGTAAACAAAATTTGCTAAACTGAGCTGCTCAAAATTGTTTTTATGGTAGTAGTGTTTCTTTGGATTGTATCA
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Task1_train_13115
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This gene mutation involves CDK5RAP2 (CDK5 regulatory subunit associated protein 2) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Microcephaly
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GATACTGTCTCAAAAACAAAAAGAATAAAGAAATTCATTCTTAAACTACTATTAAAGAAAGATATCATTAAGTAAGGCGAGGCGCAGTGCCTCACGCCTATAATCCAAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGAGAACATGGGGAAACCCCATCTCTACCAAAAGTACAAAAATTAGCCAGGCGTGCTGGCGTGCACATGTAATCCCAGCTAATCAGGAGGCTGAGGACAGGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGACGGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAGACAGAAAGATATCATTAAGCGAAAAATATAAGGTGCAGAACAGAACATGCTTGCACTTATGTAAAAAGAGGGTTTATACACATACACACACACAAACACACGCTTGCTTATACTATATATACATAAAATTCCTCTGCATAAGCAATCAATATTTATTAGATCTAGAGGACCAGGACACAAGGGTGGAAGAGTGTTTTCAGTGTATATCTCTTAGGCTTTTTGAATTCTAAACCATGTGCACCTATCCAAAAACTTACACTGAAGAAAGGGGCAATGAAATCAAGTCATCTAGTCAGACAATTGAAGTGGTATAGTACAATGAGATTGGAAGACCTGGGCTCAAAATCCACCTCACGTAGTAGCTATATGACATCAGGTGGGTTACTCATCTATAAGCCTCAGTTTCTTCCCCTGTAAGATGAAGATAAACTCCACGGCACAGGACTGTCATGAGAATTACAATAAGATGCAAATGTACAGATACCCAAGACAGTGCCTGATAGAGTTGGCAACAGACACGTTTTGTATTCCTATCACCCAAGAGGTTCTAGACGCATGACCACCATACTCACGTATAAACTGCTTTAGGCTATTGGTTTTCCTTTAAAATTGTGATTGCATCACTACTCCCTTCCAGAAAAGGGGACATCCTCACTGTCTTTCCACTCCCAGAGTGAAGAAAAAAACTTTCATAAGGGACAAAGAAGCTTTCCAATTCTTGAAAAGGCTCAGAAGTACAGCACAATCCCTCTTCAAGACAAGTCAATTTAAGTTCATCTGCTGAAACTCAAGGAGAGTTCTTTTTCCTCCTTCAAAAGTTTCCACTGGTGCAAACTTCAGAGGAGAAAAGTCAGAATAATTCCCAGGCCAAGGGCTAATCTACTAGAAAAAGCCAAGAAACAGGCACTGAAATATTGTTTGTACTCCTGTCTTTTCAAGAAAGCCAAGTTCTTTTTTCAGTTTTCAGAACCAAGGTTTGTTTTCAGACAAAGACCTGCAGGTCAAGACTTCAAATGAGGATAGGCTTTTCTTCTGACAGTTACAGGCAAGCACACAGGAATACCGAAGAGTCCTATCACAGAAAAACTGACAATCCTAACTTTGGGCTGCCAAAGGAAGCCTCAAGAAGACGGTAATTGTCAAGCACTGACTGTGTGCTGGAGCTTTTCATCTGTCTTCTCATTTTAATTCATACAAATAACCCTATGACAAAGGGATTATCACTTAATTCTGGAAGCAAGCCCCAAAAGCTAAACTGACTTGCCTAAGTTACACAAGTTACCTGGTAACAGTAGAATTCAACTCCAAAACCATTCCACCATTCCACTGCCTGTTTCTAAAGAACACGTAATTATAAAAACTTAACTGAGGTAAAAAGTAGTGAATCTGAATTCTGATTTTTAAAAGACAGTGAAAGACTTTCTTAAAATTAATCATGTACCCCTTTGCTTAATATTAAAGTCATCCTAATATCTTTATGCTCCCCATAATCAATTCAGATTAAATGAAAGCATCTCTATTCATACTAACTCTAAGAACAAATATTAATCAAATTTCTGCTTGAAATGACAATGAGAAAGGACACAAGGGACAGTAATGAGAAATGGGCCACTCACAGTTTTGTAGATATGTTCAGTGGGGCCATGAAATTCCTGTTGCATTCTTTCCTCAAGGAAATAGATGCGGAGCTTTAGGTTAAAGTTTTCTTTCTTCAATTCAGTGATTTGCTGAAAAATATCACAGAAGGGTCATCAAAAGCAAACAAAAGACAGAGGGTCCAACAGATAGTACATACATTAGTCGCTATGGATTACGAGGCTACAAAACTGATTCAAATGTTAAATACTAGAGAAAGCTTATTTTTGCTACCATTCTACTAACCCAGAAGAATTAAGTGGTTCCCACTAGCCAAAGTTAGTACAATTTGAGCATTAAAATGAATAATGACAGGAATGAATAATGACTGAATAAAGAAAGAATTCAAAACTCCACACTGATAATAAGAAGAAAAGGAAAAGAAGAATTTCTTCTTTTCAAAAGAAATCCAGTTAATAAATGTAGAATACAAGGAACAGAAAATCACTATTTTAAAACCTCTACAGTAATGATTGATTAAGGTAAGAATCAGCAGCACTAAAAGCATTAGATGAAAGATCACTACAGAACATAATATTCAGACAGTCATAACATATCACCCACAAATGGCTTATTAATTACAAAAGGAAAAGGTAACCTTACAATTTAGGAAACTTGCGAACACCATCTTGACCAAAAAAATTCATCTCTTATCACCATTGAAGGGATAAACTAACATTATTTTCCTCCTGAAATAAATCAATGAGAGCAAATAATTCCATCCAAAGTGCTTCTGTCTATAACCTTTAACCTGTATCTAATCAAGAGGAGTCTACCAGATAAATCTAAGTTGAAGAACATTCTGCAAAACAACAGAACTGAACTCTTCAAAAATCTTAATGGCAATCCTAAGGCAAAAATGTTTGGTGAACTCTTCTAAATAAAAGGAGGTTGAAGAGGCATGACTACTAAGTACAATAGAATCTTGAATTTTTTACAGAAACAACCATATGATGATACCCGGGGAAACTTGAATAACAATTTTATATTAGGTAATAATATGATTTTACAGGAAAATGTCCTAAGAAAGAGACACATGCTAATGTACTTAAGAGTGCTGTGTGCAAAATAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGAAGAAAATGTTTGCAATCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTACAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACACGCACACGTATGTTCACTGCAGCACTATTCACAATAGCAAAGGCTTGGAACCAAGCCAAATGTCCAACAACGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAATTCATGTCCTTTGTAGGGACGTGGATGAAGCTGGAAACCAACATTCTCAGCAAACTATCGCAAGGATAAAAAACCAAACACCACACGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCAGGGCCTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGTTAAATGATGAGTTAATGGGTGCAGCACAGCAACATGGCACATGTATACGTATGTAACGAACCTGCACATTGTGCACATGTACCCTAAAACTTAAAGTTTAATTTAAAAAAAAAAAAGAGTGCTGTGTCATGACATCTGCAATTAACTCAAATGA
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GATACTGTCTCAAAAACAAAAAGAATAAAGAAATTCATTCTTAAACTACTATTAAAGAAAGATATCATTAAGTAAGGCGAGGCGCAGTGCCTCACGCCTATAATCCAAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGAGAACATGGGGAAACCCCATCTCTACCAAAAGTACAAAAATTAGCCAGGCGTGCTGGCGTGCACATGTAATCCCAGCTAATCAGGAGGCTGAGGACAGGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGACGGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAGACAGAAAGATATCATTAAGCGAAAAATATAAGGTGCAGAACAGAACATGCTTGCACTTATGTAAAAAGAGGGTTTATACACATACACACACACAAACACACGCTTGCTTATACTATATATACATAAAATTCCTCTGCATAAGCAATCAATATTTATTAGATCTAGAGGACCAGGACACAAGGGTGGAAGAGTGTTTTCAGTGTATATCTCTTAGGCTTTTTGAATTCTAAACCATGTGCACCTATCCAAAAACTTACACTGAAGAAAGGGGCAATGAAATCAAGTCATCTAGTCAGACAATTGAAGTGGTATAGTACAATGAGATTGGAAGACCTGGGCTCAAAATCCACCTCACGTAGTAGCTATATGACATCAGGTGGGTTACTCATCTATAAGCCTCAGTTTCTTCCCCTGTAAGATGAAGATAAACTCCACGGCACAGGACTGTCATGAGAATTACAATAAGATGCAAATGTACAGATACCCAAGACAGTGCCTGATAGAGTTGGCAACAGACACGTTTTGTATTCCTATCACCCAAGAGGTTCTAGACGCATGACCACCATACTCACGTATAAACTGCTTTAGGCTATTGGTTTTCCTTTAAAATTGTGATTGCATCACTACTCCCTTCCAGAAAAGGGGACATCCTCACTGTCTTTCCACTCCCAGAGTGAAGAAAAAAACTTTCATAAGGGACAAAGAAGCTTTCCAATTCTTGAAAAGGCTCAGAAGTACAGCACAATCCCTCTTCAAGACAAGTCAATTTAAGTTCATCTGCTGAAACTCAAGGAGAGTTCTTTTTCCTCCTTCAAAAGTTTCCACTGGTGCAAACTTCAGAGGAGAAAAGTCAGAATAATTCCCAGGCCAAGGGCTAATCTACTAGAAAAAGCCAAGAAACAGGCACTGAAATATTGTTTGTACTCCTGTCTTTTCAAGAAAGCCAAGTTCTTTTTTCAGTTTTCAGAACCAAGGTTTGTTTTCAGACAAAGACCTGCAGGTCAAGACTTCAAATGAGGATAGGCTTTTCTTCTGACAGTTACAGGCAAGCACACAGGAATACCGAAGAGTCCTATCACAGAAAAACTGACAATCCTAACTTTGGGCTGCCAAAGGAAGCCTCAAGAAGACGGTAATTGTCAAGCACTGACTGTGTGCTGGAGCTTTTCATCTGTCTTCTCATTTTAATTCATACAAATAACCCTATGACAAAGGGATTATCACTTAATTCTGGAAGCAAGCCCCAAAAGCTAAACTGACTTGCCTAAGTTACACAAGTTACCTGGTAACAGTAGAATTCAACTCCAAAACCATTCCACCATTCCACTGCCTGTTTCTAAAGAACACGTAATTATAAAAACTTAACTGAGGTAAAAAGTAGTGAATCTGAATTCTGATTTTTAAAAGACAGTGAAAGACTTTCTTAAAATTAATCATGTACCCCTTTGCTTAATATTAAAGTCATCCTAATATCTTTATGCTCCCCATAATCAATTCAGATTAAATGAAAGCATCTCTATTCATACTAACTCTAAGAACAAATATTAATCAAATTTCTGCTTGAAATGACAATGAGAAAGGACACAAGGGACAGTAATGAGAAATGGGCCACTCACAGTTTTGTAGATATGTTCAGTGGGGCCATGAAATTCCTGTTGCATTCTTTCCTCAAAGAAATAGATGCGGAGCTTTAGGTTAAAGTTTTCTTTCTTCAATTCAGTGATTTGCTGAAAAATATCACAGAAGGGTCATCAAAAGCAAACAAAAGACAGAGGGTCCAACAGATAGTACATACATTAGTCGCTATGGATTACGAGGCTACAAAACTGATTCAAATGTTAAATACTAGAGAAAGCTTATTTTTGCTACCATTCTACTAACCCAGAAGAATTAAGTGGTTCCCACTAGCCAAAGTTAGTACAATTTGAGCATTAAAATGAATAATGACAGGAATGAATAATGACTGAATAAAGAAAGAATTCAAAACTCCACACTGATAATAAGAAGAAAAGGAAAAGAAGAATTTCTTCTTTTCAAAAGAAATCCAGTTAATAAATGTAGAATACAAGGAACAGAAAATCACTATTTTAAAACCTCTACAGTAATGATTGATTAAGGTAAGAATCAGCAGCACTAAAAGCATTAGATGAAAGATCACTACAGAACATAATATTCAGACAGTCATAACATATCACCCACAAATGGCTTATTAATTACAAAAGGAAAAGGTAACCTTACAATTTAGGAAACTTGCGAACACCATCTTGACCAAAAAAATTCATCTCTTATCACCATTGAAGGGATAAACTAACATTATTTTCCTCCTGAAATAAATCAATGAGAGCAAATAATTCCATCCAAAGTGCTTCTGTCTATAACCTTTAACCTGTATCTAATCAAGAGGAGTCTACCAGATAAATCTAAGTTGAAGAACATTCTGCAAAACAACAGAACTGAACTCTTCAAAAATCTTAATGGCAATCCTAAGGCAAAAATGTTTGGTGAACTCTTCTAAATAAAAGGAGGTTGAAGAGGCATGACTACTAAGTACAATAGAATCTTGAATTTTTTACAGAAACAACCATATGATGATACCCGGGGAAACTTGAATAACAATTTTATATTAGGTAATAATATGATTTTACAGGAAAATGTCCTAAGAAAGAGACACATGCTAATGTACTTAAGAGTGCTGTGTGCAAAATAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGAAGAAAATGTTTGCAATCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTACAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACACGCACACGTATGTTCACTGCAGCACTATTCACAATAGCAAAGGCTTGGAACCAAGCCAAATGTCCAACAACGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAATTCATGTCCTTTGTAGGGACGTGGATGAAGCTGGAAACCAACATTCTCAGCAAACTATCGCAAGGATAAAAAACCAAACACCACACGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCAGGGCCTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGTTAAATGATGAGTTAATGGGTGCAGCACAGCAACATGGCACATGTATACGTATGTAACGAACCTGCACATTGTGCACATGTACCCTAAAACTTAAAGTTTAATTTAAAAAAAAAAAAGAGTGCTGTGTCATGACATCTGCAATTAACTCAAATGA
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Task1_train_13116
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This variant lies on Chromosome 9 and affects the gene C5 (complement C5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Complement component 5 deficiency
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TCTCTGGGACTAATTTGTCTTGGATGCAAAATTATGGAACTGTTCACTGGACTCATGTGTAAAATCTGCCGCATCTGTTCTGCACACTAGCCAAAACACATGGTCAAGAGTACACATTGTCCTAGAAAATACAACAGGAGAATTCAGCTCACATTAAACTCCAGCACCGTCACTCCAGATGGGAGATTAAGCACAAAGGAAGCTACTCCATCATCAACACGTGTTACACTTTTGCTTGGATCCAAGTCAGATGTCTCTTGGTTTACATCAATTGTTTGTGCATTCAGTGTTACTGGGACTCCTCCTACCAACTGGTCAAGCGAATCTTTAACCTGCACCTGTTTGTCAAAACAATCCAAATCTATTTCAACAGCTCATCACTTATTTTAAAGCACAATTCTGAAATAATTTTCCTTCCTCCCCACCAAAGTATAAATTATTTATGTATTTTTTTCTGAAAATTTTTTTTCTGAGACAGAGACTTACTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACAATCATAGCGCACTGCAACCTTGAACTATTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGAACTATTTAGGCATGCTCCACCACACCTGGTTTACTTATGTTTAATTTAGTAAAGAGAAGTGTATTCTCAGCTTATAGAAAGATTTAATTCTATTTAGTTAAATCATTCTTGAATAGATTCTCCCATAAATCAAGCAAACTCAAAACATAAATATCATTCTATTAAGTCAGTCAAGGAGTAGGTGTGATAAGGTCTTCTGCTATCTAACTTCTGTATTTCTTTGATTGGTTTAGGACTGGATAAAGGAGAAAATGAGGCAATCGCTTCTGGGAATAAGTCCCTTGAATATGAGAAACAAAAATAGATACACCTTTTTTCCTTTAACATCTACCTCTCACTGCCATATATATATATATATACACACACAATTCCACACAGATATAGTTTGTTATTTTACTTTTATATAAACATATTTTAAGCTTATGTTCTATATAATATTGCTATATTTACATATTTTAGTATATATATTATATATTACTGTATATGCATTATATGATACTTTGTTATATATTATTTTCTATATATAGTATATATATGTAAGAACCTACAAGCATGTCCAAACCTTGCTTTGGGCTTGGTAAATCCTTTTTTTTCTTAAAAGCCCATGACCCACAGTAAATAATAAATAACACATTTTGATTGTACTTAAGTTGATTTTAAAAAGTAACACATTTTCAAAGAACAAAAAAAAATTTTGCTCTGGATTTCTAAATTAAGGGCAGGGAATAAACATTTCCATTTAATCAACATAATAAAATATATTATTTGTAATAAAATATATAATGATAGATAAAAATCTAAAAACCACATGAATGTTTCAATTCTATACTGTCAGCATTTAGAGGAGGAAAAGAAGGTGAAAGAGAGAAAAATGAATGCAGAGGAGTAAGCAAAAAAGACAGAAAAAAAGAGATTCAGGGACGGAAAGAAGCAAAAATGAAAAGAACAGAGAGCAATACAGAGACGAGAGATTGAACAGAGTTATGCACAAAGACAACACAGAGACAGAGGGAAACAAATGAGACACACTGGAGGCAAAAACATAGTGAGAGAAAGGAGTCTATTTTCAAGGAATGATATCTCCATCTTAAGGCTTTTTAAGAATTTGCCACCAAATAATTTTAAATGTTTGTATTTTTGAACTAGAGTCTTATGAGATTTTATTTACATATAATTTAATGCTTATTTATTACATGTAATTTAATGCTTATTTAGGGATGCCTAATACAAGGCTATCTTGCCCTCACTTTTGAAGTCATTGCCAAGGCTGCAGCTGACCTTCAATTTCCCATCCCTGTCTGTGTCCACCAGGAGGGGCAGGTTTCACAGAATAAGCTCCCTCTGTGACTTCATGGCAACATTCTTACCCTGTTTGCCACCCACATGTTTTCCATGAACAGAACAAGATGATCATATGTAGCAACGTCTACCCCCTCACCCAATCTACCTTGATGGGATATGGAATCCCAGGCTTCAGGAAAAGAGGAGTAGCAACCAAATTCAGTTTGTAGGGAGAGAGGACATATTTGATGCCAGGTATTTCTGCCTCTTCAGAAAATCCACCTAAGGAAATGGCAAGCATCATGTTGACAGTTTTTAGGAGTATCATGATCTGTATGGATATCCATTTCATCTCTATATGTCTCCACAGACTTATTCATTCACTCACTCCATTCTTGCATTCATTCATTTACCAGTAGTAAGTAGGACATAGGTCTTGCTTCAGAGGGGCACAGCAGAGAAGAGTTTAGACCTCAGGAGTTTCCAAGGCCTTATGCACAAGCTCGTATGTAGAGAAGCCCTTGGAGAAGTAGAGCTACAGGACTGGACTGAGGAAGGATGCCAGGAAGGGACACCACTTTTCATCAGTGGCCTGAGTTTCAGTTGACTGTATTCAAGGGATTGAGGAGAGAGGGAAGGGTCAGGCCAGAAACTGAGCCTTACAGAAGTGGAGGTGGGGGATGGGGGTTGGTGTTCACAGAGCATAGATACATAGAGAGAAATCAGAAAAAGGGAGCTTGATATAGAAAGAACCCTGAAAGGGAGTTCGAGACCAGCCGGGCCAACATGGTGAAACCTCATCCCTACTAAAACTAAAAAACGAAAACAAAAAAAGTGCCAGGCATGGTGGTATATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCATTGAGCTGAGACTGTACCACTGCACTCCAGTCTGGGCAACAGAGCAAGACTCGGGAGGGGAGGGAGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGTGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGCGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGAGGGGAGCGGGAGGGGGGAGGGGGAGGGAAGGGGACATGACCAGACAACTGGCAAGAGCCCAATAATGTTATCCTCCAGGTAAAGATTAAGTTAAACTATTAAGAATAACATTTGAAGCTTTAATATTCCCAAACTCCTTTCCAATATTACATCTCTAATACATTCTATACATATCCTATATTTTAGCCAAACTGGATGATCTGCTGTCCTCAAAGATTAAGCTTCACCATCTACTCTTCTTCATCTGCCCTCTCTCTGGAGGGTTTCTATTTCACCCTGTCTAGCAACTCTGCCTCAAAACCCTAATTATTTTTCAAGACTGATCATCTTCACAACACTGTTCTTGCTTGCTCAACAATCATCTAGAAGCTCACCTTCCTCTGAATCCTATTGCATTAATATTTTGCTTAGAGCTCATATGGAATTCTTTCTTGCAACAGTTCTTTCTTCACCTGTCTTATACCTGATGCTAATTTGTAAGCCACTTTAGTGCTGGCATCATACATCATTAATGTTTGCAAGCCTGTCTGTTTGGCAATACTTTAAATATCTCATAGATACTGCTTAAACTGAACTTATTTAAAATAAGTTGAGGAAAAAATAAAAAGAAGAAACATTAAAATAATGTTGAAAACTTTAGGCTTTAGGAAACATTCAGTTTGACTCCATCATTATGTAGACTATAATAATGATAATAGTAATAACTTTTATTTGTATAGTACTTTATCAAATAGTTTTACACACATAATCTTATTTTGGTTTTGATTTTCACCACGTGAGGACACTAGGGTGCCAAATGGTCAAGGCAGAGAGCCTGCAGAACTACTTTGGACATGAATTGGGTACTGTTTTCCCATTTTTGCAGTAGAAGTGGAGGTAATAGGGACCCAATGGCTTGTCCAATGACTAAAAAGAAGCAGAGCCCTACTGCCTTTTTATAACTATATAAAAGTCTACTTCTTATAATTATATTTAACTATGAAAGAAAATACAATGTGAAATAATTATAGAAATTGGAAATTATTTATATCTTTAATATTCTGTCTAAATATTTTTCAAAAGAAAGTATACACACACACACACACACACACACACACACTTA
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TCTCTGGGACTAATTTGTCTTGGATGCAAAATTATGGAACTGTTCACTGGACTCATGTGTAAAATCTGCCGCATCTGTTCTGCACACTAGCCAAAACACATGGTCAAGAGTACACATTGTCCTAGAAAATACAACAGGAGAATTCAGCTCACATTAAACTCCAGCACCGTCACTCCAGATGGGAGATTAAGCACAAAGGAAGCTACTCCATCATCAACACGTGTTACACTTTTGCTTGGATCCAAGTCAGATGTCTCTTGGTTTACATCAATTGTTTGTGCATTCAGTGTTACTGGGACTCCTCCTACCAACTGGTCAAGCGAATCTTTAACCTGCACCTGTTTGTCAAAACAATCCAAATCTATTTCAACAGCTCATCACTTATTTTAAAGCACAATTCTGAAATAATTTTCCTTCCTCCCCACCAAAGTATAAATTATTTATGTATTTTTTTCTGAAAATTTTTTTTCTGAGACAGAGACTTACTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACAATCATAGCGCACTGCAACCTTGAACTATTGGCCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGAACTATTTAGGCATGCTCCACCACACCTGGTTTACTTATGTTTAATTTAGTAAAGAGAAGTGTATTCTCAGCTTATAGAAAGATTTAATTCTATTTAGTTAAATCATTCTTGAATAGATTCTCCCATAAATCAAGCAAACTCAAAACATAAATATCATTCTATTAAGTCAGTCAAGGAGTAGGTGTGATAAGGTCTTCTGCTATCTAACTTCTGTATTTCTTTGATTGGTTTAGGACTGGATAAAGGAGAAAATGAGGCAATCGCTTCTGGGAATAAGTCCCTTGAATATGAGAAACAAAAATAGATACACCTTTTTTCCTTTAACATCTACCTCTCACTGCCATATATATATATATATACACACACAATTCCACACAGATATAGTTTGTTATTTTACTTTTATATAAACATATTTTAAGCTTATGTTCTATATAATATTGCTATATTTACATATTTTAGTATATATATTATATATTACTGTATATGCATTATATGATACTTTGTTATATATTATTTTCTATATATAGTATATATATGTAAGAACCTACAAGCATGTCCAAACCTTGCTTTGGGCTTGGTAAATCCTTTTTTTTCTTAAAAGCCCATGACCCACAGTAAATAATAAATAACACATTTTGATTGTACTTAAGTTGATTTTAAAAAGTAACACATTTTCAAAGAACAAAAAAAAATTTTGCTCTGGATTTCTAAATTAAGGGCAGGGAATAAACATTTCCATTTAATCAACATAATAAAATATATTATTTGTAATAAAATATATAATGATAGATAAAAATCTAAAAACCACATGAATGTTTCAATTCTATACTGTCAGCATTTAGAGGAGGAAAAGAAGGTGAAAGAGAGAAAAATGAATGCAGAGGAGTAAGCAAAAAAGACAGAAAAAAAGAGATTCAGGGACGGAAAGAAGCAAAAATGAAAAGAACAGAGAGCAATACAGAGACGAGAGATTGAACAGAGTTATGCACAAAGACAACACAGAGACAGAGGGAAACAAATGAGACACACTGGAGGCAAAAACATAGTGAGAGAAAGGAGTCTATTTTCAAGGAATGATATCTCCATCTTAAGGCTTTTTAAGAATTTGCCACCAAATAATTTTAAATGTTTGTATTTTTGAACTAGAGTCTTATGAGATTTTATTTACATATAATTTAATGCTTATTTATTACATGTAATTTAATGCTTATTTAGGGATGCCTAATACAAGGCTATCTTGCCCTCACTTTTGAAGTCATTGCCAAGGCTGCAGCTGACCTTCAATTTCCCATCCCTGTCTGTGTCCACCAGGAGGGGCAGGTTTCACAGAATAAGCTCCCTCTGTGACTTCATGGCAACATTCTTACCCTGTTTGCCACCCACATGTTTTCCATGAACAGAACAAGATGATCATATGTAGCAACGTCTACCCCCTCACCCAATCTACCCTGATGGGATATGGAATCCCAGGCTTCAGGAAAAGAGGAGTAGCAACCAAATTCAGTTTGTAGGGAGAGAGGACATATTTGATGCCAGGTATTTCTGCCTCTTCAGAAAATCCACCTAAGGAAATGGCAAGCATCATGTTGACAGTTTTTAGGAGTATCATGATCTGTATGGATATCCATTTCATCTCTATATGTCTCCACAGACTTATTCATTCACTCACTCCATTCTTGCATTCATTCATTTACCAGTAGTAAGTAGGACATAGGTCTTGCTTCAGAGGGGCACAGCAGAGAAGAGTTTAGACCTCAGGAGTTTCCAAGGCCTTATGCACAAGCTCGTATGTAGAGAAGCCCTTGGAGAAGTAGAGCTACAGGACTGGACTGAGGAAGGATGCCAGGAAGGGACACCACTTTTCATCAGTGGCCTGAGTTTCAGTTGACTGTATTCAAGGGATTGAGGAGAGAGGGAAGGGTCAGGCCAGAAACTGAGCCTTACAGAAGTGGAGGTGGGGGATGGGGGTTGGTGTTCACAGAGCATAGATACATAGAGAGAAATCAGAAAAAGGGAGCTTGATATAGAAAGAACCCTGAAAGGGAGTTCGAGACCAGCCGGGCCAACATGGTGAAACCTCATCCCTACTAAAACTAAAAAACGAAAACAAAAAAAGTGCCAGGCATGGTGGTATATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCATTGAGCTGAGACTGTACCACTGCACTCCAGTCTGGGCAACAGAGCAAGACTCGGGAGGGGAGGGAGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGTGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGCGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGAGGGGAGCGGGAGGGGGGAGGGGGAGGGAAGGGGACATGACCAGACAACTGGCAAGAGCCCAATAATGTTATCCTCCAGGTAAAGATTAAGTTAAACTATTAAGAATAACATTTGAAGCTTTAATATTCCCAAACTCCTTTCCAATATTACATCTCTAATACATTCTATACATATCCTATATTTTAGCCAAACTGGATGATCTGCTGTCCTCAAAGATTAAGCTTCACCATCTACTCTTCTTCATCTGCCCTCTCTCTGGAGGGTTTCTATTTCACCCTGTCTAGCAACTCTGCCTCAAAACCCTAATTATTTTTCAAGACTGATCATCTTCACAACACTGTTCTTGCTTGCTCAACAATCATCTAGAAGCTCACCTTCCTCTGAATCCTATTGCATTAATATTTTGCTTAGAGCTCATATGGAATTCTTTCTTGCAACAGTTCTTTCTTCACCTGTCTTATACCTGATGCTAATTTGTAAGCCACTTTAGTGCTGGCATCATACATCATTAATGTTTGCAAGCCTGTCTGTTTGGCAATACTTTAAATATCTCATAGATACTGCTTAAACTGAACTTATTTAAAATAAGTTGAGGAAAAAATAAAAAGAAGAAACATTAAAATAATGTTGAAAACTTTAGGCTTTAGGAAACATTCAGTTTGACTCCATCATTATGTAGACTATAATAATGATAATAGTAATAACTTTTATTTGTATAGTACTTTATCAAATAGTTTTACACACATAATCTTATTTTGGTTTTGATTTTCACCACGTGAGGACACTAGGGTGCCAAATGGTCAAGGCAGAGAGCCTGCAGAACTACTTTGGACATGAATTGGGTACTGTTTTCCCATTTTTGCAGTAGAAGTGGAGGTAATAGGGACCCAATGGCTTGTCCAATGACTAAAAAGAAGCAGAGCCCTACTGCCTTTTTATAACTATATAAAAGTCTACTTCTTATAATTATATTTAACTATGAAAGAAAATACAATGTGAAATAATTATAGAAATTGGAAATTATTTATATCTTTAATATTCTGTCTAAATATTTTTCAAAAGAAAGTATACACACACACACACACACACACACACACACTTA
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Task1_train_13117
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This mutation occurs in GSN (gelsolin) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Finnish type amyloidosis
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CTGTGGGCCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAACAAGGTTTCCAGCCTTGGCTTGGCCACGCACTTGCTGAGTGCCCTTGAGTAAGTCACTTCACTTCTCTGGGCTTCAGTTTACCGTGGGTAAAGTGGGGTGAAGTAGAAGGACCTTTCCAACTCTGATTTGACAACTCTGGGGCATGGAGCTGGGGACTGCTCACAGGAAAGCCCAGCTGACTTTCCTTGGCTTGCTTCTGAGTGAGGGCAGTTGTGACTGCAGCAGGGAAGCTCTCCTGAACGCCTTGCTCTGGGATGCAGTAATGATTACAGAGGGCTGGGGAGCAGGAGCTTGTGTCTCCACTTCAGAAAGGAGAGGCCTGAGGCTCGGAAAGGGCAAGTGACTTACCCAAAGCCATCCAGCATTGTTGTGGCGGGGCACCTGTCCCTTACCCATAGCTGCTCTGAAGGGACTGCTGGGTGGGAGTTGCTGCGGTACCGTAGGGGAAAGCAGAAGGGTGGCATGGGCTGGAACAATCCAGAAAGACTTCCCAGAGAGCCTTGAAGGATGAGAAAGATTTGGATTAGTACCTCTCAAAGTGGCTTTTGCAAAATACTCAAGCTGGAGGCAGGATATGGTGAAGAAAAGTGGTTCTTGGGCTGGGTTCAGTGACTCACTCCTGTAATCCCAGCACCCAAGGATCTCTTGAGGCCAGGAGTTCAAGACCAGCTTAAACAGCATAGTGAGACCCCATGTCTACAATAAAATAAAATAAAATAAGTAAGCTGGGCACTGTGGCTCATAACTGTAGTCTTAGCCACTCGAGAGGCTGAGATGGGAGGATCATTCAAGTCCAGGAGTTTGAGGTTACAGTGAGCTGTGATTGTACCAATGCACTGCAGCCTGGGACAGAGTGAAACCCTGTTGAAAGGAAGGAAGAGAGAGAGAGAGCGGAAGGAAGGAGAGAGAGAGAGAAAGAGAGAAAGGAAGGAAGGAAAGGAAAGAGAGAGGGAAAGAGAATGAAAGAAAGAAAAAAAGAAAGGAAAGAAAAAAGAAAGAGGGAAAGAAAGAAAAGCAGTTCTTGGTTCAATAAGATAGGGAAATACTGTATAAAACAAAAGGCAAGCAGGTGTATTCACCATAGGATTTGACAGAGCCTTTATTATGCACATGCGCGTTGTATAACAGTCAGGGAGGGTGAGTGAGAAGCATTCCCTATGCTTATTTGACCGTGGAACTCTTTCCTTGCAGAATGTCTTAGGGGACTAGTGTGCCTTTGGGAAACGCCGGTTTTGAGGAAGGAATTGTTGCAGTTTTTTTGATTTAGAAAGTGGCTACAGGGGTCCTTGTTAGTGGAGTATGGGATTCAAAGGGGTGGCAGAAAGATGCAGTGGGCAGGGAATCTCTCACTTCTTAGCTGTGTGGCCTTGGGCAAATTTTATTCCTTTCCTAAACCTCAGTTTCCTACTCTGAAACAGTCTCAAACAAGATAATGGGTATGAAAGTCCTGAGTTAACTGAGAATCACTGTGTTGCTGGAAAGCCCCTGGTCCACAAGCCAGAATTTCCTTTACCTCAATTCTGTCCCCTTCTTCCATATCTGCTTCCCTGGGCCTTCTCCCCTGGGCTAATGCTGTCTCTTTGGCCCCACAGAAAGGAGGTGTGGCATCAGGATTCAAGCACGTGGTACCCAACGAGGTGGTGGTGCAGAGACTCTTCCAGGTCAAAGGGCGGCGTGTGGTCCGTGCCACCGAGGTACCTGTGTCCTGGGAGAGCTTCAACAATGGCGACTGCTTCATCCTGGACCTGGGCAACGTGAGTCCTGCTTTCCTCTTTCCCAGGAGCCACTGAGGTGCTCCTGGTCTGATCAGGGACTTGGGTACATCCACGTGAACAAATGCATAGATGCAGGTGGGCAAACCACAGGGACCAGCATTGTTCACGTACAGATATGTCTGTATGCAAAGACTCCCACAAATGTAGACTCACACCACGGGTATAGTGCGTACTTGGACTTTGATTGACATATAGACTTCCTGGCACCTTCTGTTCATATGTACGTCTTGTGTCCTTTTTCACATGCTTATAAATATATAACAGTCATGGGCAAACACTCTGGGCTTTTGCCCACCAGGTGTGCACATGTGCACCATCATGAATGCCCACACATGTATACTCGGGTATGTTGTTTAAGGTCCCACATGTGTATGTCATACATGTAGTTGCACATGCCCATGATCTATGGCAATGTGTGTGGGATGCCCTTACCCAGGCCCACCTTATAGATGTGTGACGCTTTGTACACACTTGTCTCACAAATCCCTGGAGCGCAGACCTGCAAATGGACACGGCCCTTCTACCCCAAAGCTCATATGCTTATACACCTGTGATATAATGTCCGTGCAAACATGAGCACACACTGATTTAGTGTAAGCTTTTTATTAAAGCGTCATGGGCACACAGAGGAGTGTGTGAATCCTGAGTGTACAGCTTGATGGATTACACAGAGCGAACACACTCACGTAACACTGGATCATGAAGCAGAACCTCACCAGCCCCTAGAAGGCCCCTTTTGCCCCTTTCGGTGCCCTCACCCCAAGGGCAACCATCATCCTGAACTTTCTCAACAGCATAGATGAGTTTTGCCTGTTTCTGAACTTTATAGACACGGAACCTTGTTCTTTTATCTCTGACCTTTTGCTCAACATTACATTTCTGAGATGCATCCGTATTGTTGCATTTAGTTGTAGGTTGTTCATTTTCCTTGCTGTGGAAGATTCAGTTGTGTGGGTGTACCATGATTTATGTATCCTTTATGTTGTTGATGGGCACTTGAGGTGGCTTCTGGTTTGGGGCTATTACAGACAGTGCTACTCTGAACATTCTTGCACAAGTCTTTTGGTGGACATACGAACGTACTTCTGTCAGGTATTTTCCTAGAAGGAGGATTGCTGGGTCATAAGGAAATAGGTATATTCGGCTTTAGTGGCTATGGCCAAATGGTTTTCCAAAATGGTTGTGCCAATTTATATTCCCTTCAGCAGGCAAACATTTTTGCACACATTCTAGATGTAGTTGTACCTGTGAAAAAATTCCTGTCCTCAGACATGCGCTCCCATCTCCTGGTGTGTGCAGATCACACTTAATTGTACGTAAATAATGCACGTGTGCAGACTGTGCCAGCCTTCACCTGGGCAAGTGCAGAACAGGGTGAGCCTGCACACCACACGCCACACTCCCCAAGCCCTGTCGCTGGGCGGGGCTTATAGGAAGGCGGGGCACTGACTTCCTGGGTCTCTGTCTTCCAGAACATCCACCAGTGGTGTGGTTCCAACAGCAATCGGTATGAAAGACTGAAGGCCACACAGGTGTCCAAGGGCATCCGGGACAACGAGCGGAGTGGCCGGGCCCGAGTGCACGTGTCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAGGTGCCTGTGGGGTGCGCAATGGGGTGGCCATGGGGACACGCTGCTCATGACTTTCTTCTGTTCAGTAGGCAATTTGAGGTGAATTTGAGGAAAAAAAAAAACTTCCGCTCTACCCCACCTTTTTATTTTTAAAATACTTTTTTATTTTAATTTTTGAGACAGGATCTTATTCATTGTTGCCTGAGCTGGAGTGCAGGGGCGCCATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGAGTGCTACCAAGCCAGGCTAACTTTTGAATTTTTTGTAGGAATGAGGTCTTGCCATGTCGCTCAGGCTGGTCTCCAACTTCTGGGG
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CTGTGGGCCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAACAAGGTTTCCAGCCTTGGCTTGGCCACGCACTTGCTGAGTGCCCTTGAGTAAGTCACTTCACTTCTCTGGGCTTCAGTTTACCGTGGGTAAAGTGGGGTGAAGTAGAAGGACCTTTCCAACTCTGATTTGACAACTCTGGGGCATGGAGCTGGGGACTGCTCACAGGAAAGCCCAGCTGACTTTCCTTGGCTTGCTTCTGAGTGAGGGCAGTTGTGACTGCAGCAGGGAAGCTCTCCTGAACGCCTTGCTCTGGGATGCAGTAATGATTACAGAGGGCTGGGGAGCAGGAGCTTGTGTCTCCACTTCAGAAAGGAGAGGCCTGAGGCTCGGAAAGGGCAAGTGACTTACCCAAAGCCATCCAGCATTGTTGTGGCGGGGCACCTGTCCCTTACCCATAGCTGCTCTGAAGGGACTGCTGGGTGGGAGTTGCTGCGGTACCGTAGGGGAAAGCAGAAGGGTGGCATGGGCTGGAACAATCCAGAAAGACTTCCCAGAGAGCCTTGAAGGATGAGAAAGATTTGGATTAGTACCTCTCAAAGTGGCTTTTGCAAAATACTCAAGCTGGAGGCAGGATATGGTGAAGAAAAGTGGTTCTTGGGCTGGGTTCAGTGACTCACTCCTGTAATCCCAGCACCCAAGGATCTCTTGAGGCCAGGAGTTCAAGACCAGCTTAAACAGCATAGTGAGACCCCATGTCTACAATAAAATAAAATAAAATAAGTAAGCTGGGCACTGTGGCTCATAACTGTAGTCTTAGCCACTCGAGAGGCTGAGATGGGAGGATCATTCAAGTCCAGGAGTTTGAGGTTACAGTGAGCTGTGATTGTACCAATGCACTGCAGCCTGGGACAGAGTGAAACCCTGTTGAAAGGAAGGAAGAGAGAGAGAGAGCGGAAGGAAGGAGAGAGAGAGAGAAAGAGAGAAAGGAAGGAAGGAAAGGAAAGAGAGAGGGAAAGAGAATGAAAGAAAGAAAAAAAGAAAGGAAAGAAAAAAGAAAGAGGGAAAGAAAGAAAAGCAGTTCTTGGTTCAATAAGATAGGGAAATACTGTATAAAACAAAAGGCAAGCAGGTGTATTCACCATAGGATTTGACAGAGCCTTTATTATGCACATGCGCGTTGTATAACAGTCAGGGAGGGTGAGTGAGAAGCATTCCCTATGCTTATTTGACCGTGGAACTCTTTCCTTGCAGAATGTCTTAGGGGACTAGTGTGCCTTTGGGAAACGCCGGTTTTGAGGAAGGAATTGTTGCAGTTTTTTTGATTTAGAAAGTGGCTACAGGGGTCCTTGTTAGTGGAGTATGGGATTCAAAGGGGTGGCAGAAAGATGCAGTGGGCAGGGAATCTCTCACTTCTTAGCTGTGTGGCCTTGGGCAAATTTTATTCCTTTCCTAAACCTCAGTTTCCTACTCTGAAACAGTCTCAAACAAGATAATGGGTATGAAAGTCCTGAGTTAACTGAGAATCACTGTGTTGCTGGAAAGCCCCTGGTCCACAAGCCAGAATTTCCTTTACCTCAATTCTGTCCCCTTCTTCCATATCTGCTTCCCTGGGCCTTCTCCCCTGGGCTAATGCTGTCTCTTTGGCCCCACAGAAAGGAGGTGTGGCATCAGGATTCAAGCACGTGGTACCCAACGAGGTGGTGGTGCAGAGACTCTTCCAGGTCAAAGGGCGGCGTGTGGTCCGTGCCACCGAGGTACCTGTGTCCTGGGAGAGCTTCAAAAATGGCGACTGCTTCATCCTGGACCTGGGCAACGTGAGTCCTGCTTTCCTCTTTCCCAGGAGCCACTGAGGTGCTCCTGGTCTGATCAGGGACTTGGGTACATCCACGTGAACAAATGCATAGATGCAGGTGGGCAAACCACAGGGACCAGCATTGTTCACGTACAGATATGTCTGTATGCAAAGACTCCCACAAATGTAGACTCACACCACGGGTATAGTGCGTACTTGGACTTTGATTGACATATAGACTTCCTGGCACCTTCTGTTCATATGTACGTCTTGTGTCCTTTTTCACATGCTTATAAATATATAACAGTCATGGGCAAACACTCTGGGCTTTTGCCCACCAGGTGTGCACATGTGCACCATCATGAATGCCCACACATGTATACTCGGGTATGTTGTTTAAGGTCCCACATGTGTATGTCATACATGTAGTTGCACATGCCCATGATCTATGGCAATGTGTGTGGGATGCCCTTACCCAGGCCCACCTTATAGATGTGTGACGCTTTGTACACACTTGTCTCACAAATCCCTGGAGCGCAGACCTGCAAATGGACACGGCCCTTCTACCCCAAAGCTCATATGCTTATACACCTGTGATATAATGTCCGTGCAAACATGAGCACACACTGATTTAGTGTAAGCTTTTTATTAAAGCGTCATGGGCACACAGAGGAGTGTGTGAATCCTGAGTGTACAGCTTGATGGATTACACAGAGCGAACACACTCACGTAACACTGGATCATGAAGCAGAACCTCACCAGCCCCTAGAAGGCCCCTTTTGCCCCTTTCGGTGCCCTCACCCCAAGGGCAACCATCATCCTGAACTTTCTCAACAGCATAGATGAGTTTTGCCTGTTTCTGAACTTTATAGACACGGAACCTTGTTCTTTTATCTCTGACCTTTTGCTCAACATTACATTTCTGAGATGCATCCGTATTGTTGCATTTAGTTGTAGGTTGTTCATTTTCCTTGCTGTGGAAGATTCAGTTGTGTGGGTGTACCATGATTTATGTATCCTTTATGTTGTTGATGGGCACTTGAGGTGGCTTCTGGTTTGGGGCTATTACAGACAGTGCTACTCTGAACATTCTTGCACAAGTCTTTTGGTGGACATACGAACGTACTTCTGTCAGGTATTTTCCTAGAAGGAGGATTGCTGGGTCATAAGGAAATAGGTATATTCGGCTTTAGTGGCTATGGCCAAATGGTTTTCCAAAATGGTTGTGCCAATTTATATTCCCTTCAGCAGGCAAACATTTTTGCACACATTCTAGATGTAGTTGTACCTGTGAAAAAATTCCTGTCCTCAGACATGCGCTCCCATCTCCTGGTGTGTGCAGATCACACTTAATTGTACGTAAATAATGCACGTGTGCAGACTGTGCCAGCCTTCACCTGGGCAAGTGCAGAACAGGGTGAGCCTGCACACCACACGCCACACTCCCCAAGCCCTGTCGCTGGGCGGGGCTTATAGGAAGGCGGGGCACTGACTTCCTGGGTCTCTGTCTTCCAGAACATCCACCAGTGGTGTGGTTCCAACAGCAATCGGTATGAAAGACTGAAGGCCACACAGGTGTCCAAGGGCATCCGGGACAACGAGCGGAGTGGCCGGGCCCGAGTGCACGTGTCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAGGTGCCTGTGGGGTGCGCAATGGGGTGGCCATGGGGACACGCTGCTCATGACTTTCTTCTGTTCAGTAGGCAATTTGAGGTGAATTTGAGGAAAAAAAAAAACTTCCGCTCTACCCCACCTTTTTATTTTTAAAATACTTTTTTATTTTAATTTTTGAGACAGGATCTTATTCATTGTTGCCTGAGCTGGAGTGCAGGGGCGCCATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGAGTGCTACCAAGCCAGGCTAACTTTTGAATTTTTTGTAGGAATGAGGTCTTGCCATGTCGCTCAGGCTGGTCTCCAACTTCTGGGG
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Task1_train_13118
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This variant affects the gene GSN (gelsolin) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Finnish type amyloidosis
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CCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAACAAGGTTTCCAGCCTTGGCTTGGCCACGCACTTGCTGAGTGCCCTTGAGTAAGTCACTTCACTTCTCTGGGCTTCAGTTTACCGTGGGTAAAGTGGGGTGAAGTAGAAGGACCTTTCCAACTCTGATTTGACAACTCTGGGGCATGGAGCTGGGGACTGCTCACAGGAAAGCCCAGCTGACTTTCCTTGGCTTGCTTCTGAGTGAGGGCAGTTGTGACTGCAGCAGGGAAGCTCTCCTGAACGCCTTGCTCTGGGATGCAGTAATGATTACAGAGGGCTGGGGAGCAGGAGCTTGTGTCTCCACTTCAGAAAGGAGAGGCCTGAGGCTCGGAAAGGGCAAGTGACTTACCCAAAGCCATCCAGCATTGTTGTGGCGGGGCACCTGTCCCTTACCCATAGCTGCTCTGAAGGGACTGCTGGGTGGGAGTTGCTGCGGTACCGTAGGGGAAAGCAGAAGGGTGGCATGGGCTGGAACAATCCAGAAAGACTTCCCAGAGAGCCTTGAAGGATGAGAAAGATTTGGATTAGTACCTCTCAAAGTGGCTTTTGCAAAATACTCAAGCTGGAGGCAGGATATGGTGAAGAAAAGTGGTTCTTGGGCTGGGTTCAGTGACTCACTCCTGTAATCCCAGCACCCAAGGATCTCTTGAGGCCAGGAGTTCAAGACCAGCTTAAACAGCATAGTGAGACCCCATGTCTACAATAAAATAAAATAAAATAAGTAAGCTGGGCACTGTGGCTCATAACTGTAGTCTTAGCCACTCGAGAGGCTGAGATGGGAGGATCATTCAAGTCCAGGAGTTTGAGGTTACAGTGAGCTGTGATTGTACCAATGCACTGCAGCCTGGGACAGAGTGAAACCCTGTTGAAAGGAAGGAAGAGAGAGAGAGAGCGGAAGGAAGGAGAGAGAGAGAGAAAGAGAGAAAGGAAGGAAGGAAAGGAAAGAGAGAGGGAAAGAGAATGAAAGAAAGAAAAAAAGAAAGGAAAGAAAAAAGAAAGAGGGAAAGAAAGAAAAGCAGTTCTTGGTTCAATAAGATAGGGAAATACTGTATAAAACAAAAGGCAAGCAGGTGTATTCACCATAGGATTTGACAGAGCCTTTATTATGCACATGCGCGTTGTATAACAGTCAGGGAGGGTGAGTGAGAAGCATTCCCTATGCTTATTTGACCGTGGAACTCTTTCCTTGCAGAATGTCTTAGGGGACTAGTGTGCCTTTGGGAAACGCCGGTTTTGAGGAAGGAATTGTTGCAGTTTTTTTGATTTAGAAAGTGGCTACAGGGGTCCTTGTTAGTGGAGTATGGGATTCAAAGGGGTGGCAGAAAGATGCAGTGGGCAGGGAATCTCTCACTTCTTAGCTGTGTGGCCTTGGGCAAATTTTATTCCTTTCCTAAACCTCAGTTTCCTACTCTGAAACAGTCTCAAACAAGATAATGGGTATGAAAGTCCTGAGTTAACTGAGAATCACTGTGTTGCTGGAAAGCCCCTGGTCCACAAGCCAGAATTTCCTTTACCTCAATTCTGTCCCCTTCTTCCATATCTGCTTCCCTGGGCCTTCTCCCCTGGGCTAATGCTGTCTCTTTGGCCCCACAGAAAGGAGGTGTGGCATCAGGATTCAAGCACGTGGTACCCAACGAGGTGGTGGTGCAGAGACTCTTCCAGGTCAAAGGGCGGCGTGTGGTCCGTGCCACCGAGGTACCTGTGTCCTGGGAGAGCTTCAACAATGGCGACTGCTTCATCCTGGACCTGGGCAACGTGAGTCCTGCTTTCCTCTTTCCCAGGAGCCACTGAGGTGCTCCTGGTCTGATCAGGGACTTGGGTACATCCACGTGAACAAATGCATAGATGCAGGTGGGCAAACCACAGGGACCAGCATTGTTCACGTACAGATATGTCTGTATGCAAAGACTCCCACAAATGTAGACTCACACCACGGGTATAGTGCGTACTTGGACTTTGATTGACATATAGACTTCCTGGCACCTTCTGTTCATATGTACGTCTTGTGTCCTTTTTCACATGCTTATAAATATATAACAGTCATGGGCAAACACTCTGGGCTTTTGCCCACCAGGTGTGCACATGTGCACCATCATGAATGCCCACACATGTATACTCGGGTATGTTGTTTAAGGTCCCACATGTGTATGTCATACATGTAGTTGCACATGCCCATGATCTATGGCAATGTGTGTGGGATGCCCTTACCCAGGCCCACCTTATAGATGTGTGACGCTTTGTACACACTTGTCTCACAAATCCCTGGAGCGCAGACCTGCAAATGGACACGGCCCTTCTACCCCAAAGCTCATATGCTTATACACCTGTGATATAATGTCCGTGCAAACATGAGCACACACTGATTTAGTGTAAGCTTTTTATTAAAGCGTCATGGGCACACAGAGGAGTGTGTGAATCCTGAGTGTACAGCTTGATGGATTACACAGAGCGAACACACTCACGTAACACTGGATCATGAAGCAGAACCTCACCAGCCCCTAGAAGGCCCCTTTTGCCCCTTTCGGTGCCCTCACCCCAAGGGCAACCATCATCCTGAACTTTCTCAACAGCATAGATGAGTTTTGCCTGTTTCTGAACTTTATAGACACGGAACCTTGTTCTTTTATCTCTGACCTTTTGCTCAACATTACATTTCTGAGATGCATCCGTATTGTTGCATTTAGTTGTAGGTTGTTCATTTTCCTTGCTGTGGAAGATTCAGTTGTGTGGGTGTACCATGATTTATGTATCCTTTATGTTGTTGATGGGCACTTGAGGTGGCTTCTGGTTTGGGGCTATTACAGACAGTGCTACTCTGAACATTCTTGCACAAGTCTTTTGGTGGACATACGAACGTACTTCTGTCAGGTATTTTCCTAGAAGGAGGATTGCTGGGTCATAAGGAAATAGGTATATTCGGCTTTAGTGGCTATGGCCAAATGGTTTTCCAAAATGGTTGTGCCAATTTATATTCCCTTCAGCAGGCAAACATTTTTGCACACATTCTAGATGTAGTTGTACCTGTGAAAAAATTCCTGTCCTCAGACATGCGCTCCCATCTCCTGGTGTGTGCAGATCACACTTAATTGTACGTAAATAATGCACGTGTGCAGACTGTGCCAGCCTTCACCTGGGCAAGTGCAGAACAGGGTGAGCCTGCACACCACACGCCACACTCCCCAAGCCCTGTCGCTGGGCGGGGCTTATAGGAAGGCGGGGCACTGACTTCCTGGGTCTCTGTCTTCCAGAACATCCACCAGTGGTGTGGTTCCAACAGCAATCGGTATGAAAGACTGAAGGCCACACAGGTGTCCAAGGGCATCCGGGACAACGAGCGGAGTGGCCGGGCCCGAGTGCACGTGTCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAGGTGCCTGTGGGGTGCGCAATGGGGTGGCCATGGGGACACGCTGCTCATGACTTTCTTCTGTTCAGTAGGCAATTTGAGGTGAATTTGAGGAAAAAAAAAAACTTCCGCTCTACCCCACCTTTTTATTTTTAAAATACTTTTTTATTTTAATTTTTGAGACAGGATCTTATTCATTGTTGCCTGAGCTGGAGTGCAGGGGCGCCATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGAGTGCTACCAAGCCAGGCTAACTTTTGAATTTTTTGTAGGAATGAGGTCTTGCCATGTCGCTCAGGCTGGTCTCCAACTTCTGGGGTCAAACC
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CCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAACAAGGTTTCCAGCCTTGGCTTGGCCACGCACTTGCTGAGTGCCCTTGAGTAAGTCACTTCACTTCTCTGGGCTTCAGTTTACCGTGGGTAAAGTGGGGTGAAGTAGAAGGACCTTTCCAACTCTGATTTGACAACTCTGGGGCATGGAGCTGGGGACTGCTCACAGGAAAGCCCAGCTGACTTTCCTTGGCTTGCTTCTGAGTGAGGGCAGTTGTGACTGCAGCAGGGAAGCTCTCCTGAACGCCTTGCTCTGGGATGCAGTAATGATTACAGAGGGCTGGGGAGCAGGAGCTTGTGTCTCCACTTCAGAAAGGAGAGGCCTGAGGCTCGGAAAGGGCAAGTGACTTACCCAAAGCCATCCAGCATTGTTGTGGCGGGGCACCTGTCCCTTACCCATAGCTGCTCTGAAGGGACTGCTGGGTGGGAGTTGCTGCGGTACCGTAGGGGAAAGCAGAAGGGTGGCATGGGCTGGAACAATCCAGAAAGACTTCCCAGAGAGCCTTGAAGGATGAGAAAGATTTGGATTAGTACCTCTCAAAGTGGCTTTTGCAAAATACTCAAGCTGGAGGCAGGATATGGTGAAGAAAAGTGGTTCTTGGGCTGGGTTCAGTGACTCACTCCTGTAATCCCAGCACCCAAGGATCTCTTGAGGCCAGGAGTTCAAGACCAGCTTAAACAGCATAGTGAGACCCCATGTCTACAATAAAATAAAATAAAATAAGTAAGCTGGGCACTGTGGCTCATAACTGTAGTCTTAGCCACTCGAGAGGCTGAGATGGGAGGATCATTCAAGTCCAGGAGTTTGAGGTTACAGTGAGCTGTGATTGTACCAATGCACTGCAGCCTGGGACAGAGTGAAACCCTGTTGAAAGGAAGGAAGAGAGAGAGAGAGCGGAAGGAAGGAGAGAGAGAGAGAAAGAGAGAAAGGAAGGAAGGAAAGGAAAGAGAGAGGGAAAGAGAATGAAAGAAAGAAAAAAAGAAAGGAAAGAAAAAAGAAAGAGGGAAAGAAAGAAAAGCAGTTCTTGGTTCAATAAGATAGGGAAATACTGTATAAAACAAAAGGCAAGCAGGTGTATTCACCATAGGATTTGACAGAGCCTTTATTATGCACATGCGCGTTGTATAACAGTCAGGGAGGGTGAGTGAGAAGCATTCCCTATGCTTATTTGACCGTGGAACTCTTTCCTTGCAGAATGTCTTAGGGGACTAGTGTGCCTTTGGGAAACGCCGGTTTTGAGGAAGGAATTGTTGCAGTTTTTTTGATTTAGAAAGTGGCTACAGGGGTCCTTGTTAGTGGAGTATGGGATTCAAAGGGGTGGCAGAAAGATGCAGTGGGCAGGGAATCTCTCACTTCTTAGCTGTGTGGCCTTGGGCAAATTTTATTCCTTTCCTAAACCTCAGTTTCCTACTCTGAAACAGTCTCAAACAAGATAATGGGTATGAAAGTCCTGAGTTAACTGAGAATCACTGTGTTGCTGGAAAGCCCCTGGTCCACAAGCCAGAATTTCCTTTACCTCAATTCTGTCCCCTTCTTCCATATCTGCTTCCCTGGGCCTTCTCCCCTGGGCTAATGCTGTCTCTTTGGCCCCACAGAAAGGAGGTGTGGCATCAGGATTCAAGCACGTGGTACCCAACGAGGTGGTGGTGCAGAGACTCTTCCAGGTCAAAGGGCGGCGTGTGGTCCGTGCCACCGAGGTACCTGTGTCCTGGGAGAGCTTCAACAATGGCAACTGCTTCATCCTGGACCTGGGCAACGTGAGTCCTGCTTTCCTCTTTCCCAGGAGCCACTGAGGTGCTCCTGGTCTGATCAGGGACTTGGGTACATCCACGTGAACAAATGCATAGATGCAGGTGGGCAAACCACAGGGACCAGCATTGTTCACGTACAGATATGTCTGTATGCAAAGACTCCCACAAATGTAGACTCACACCACGGGTATAGTGCGTACTTGGACTTTGATTGACATATAGACTTCCTGGCACCTTCTGTTCATATGTACGTCTTGTGTCCTTTTTCACATGCTTATAAATATATAACAGTCATGGGCAAACACTCTGGGCTTTTGCCCACCAGGTGTGCACATGTGCACCATCATGAATGCCCACACATGTATACTCGGGTATGTTGTTTAAGGTCCCACATGTGTATGTCATACATGTAGTTGCACATGCCCATGATCTATGGCAATGTGTGTGGGATGCCCTTACCCAGGCCCACCTTATAGATGTGTGACGCTTTGTACACACTTGTCTCACAAATCCCTGGAGCGCAGACCTGCAAATGGACACGGCCCTTCTACCCCAAAGCTCATATGCTTATACACCTGTGATATAATGTCCGTGCAAACATGAGCACACACTGATTTAGTGTAAGCTTTTTATTAAAGCGTCATGGGCACACAGAGGAGTGTGTGAATCCTGAGTGTACAGCTTGATGGATTACACAGAGCGAACACACTCACGTAACACTGGATCATGAAGCAGAACCTCACCAGCCCCTAGAAGGCCCCTTTTGCCCCTTTCGGTGCCCTCACCCCAAGGGCAACCATCATCCTGAACTTTCTCAACAGCATAGATGAGTTTTGCCTGTTTCTGAACTTTATAGACACGGAACCTTGTTCTTTTATCTCTGACCTTTTGCTCAACATTACATTTCTGAGATGCATCCGTATTGTTGCATTTAGTTGTAGGTTGTTCATTTTCCTTGCTGTGGAAGATTCAGTTGTGTGGGTGTACCATGATTTATGTATCCTTTATGTTGTTGATGGGCACTTGAGGTGGCTTCTGGTTTGGGGCTATTACAGACAGTGCTACTCTGAACATTCTTGCACAAGTCTTTTGGTGGACATACGAACGTACTTCTGTCAGGTATTTTCCTAGAAGGAGGATTGCTGGGTCATAAGGAAATAGGTATATTCGGCTTTAGTGGCTATGGCCAAATGGTTTTCCAAAATGGTTGTGCCAATTTATATTCCCTTCAGCAGGCAAACATTTTTGCACACATTCTAGATGTAGTTGTACCTGTGAAAAAATTCCTGTCCTCAGACATGCGCTCCCATCTCCTGGTGTGTGCAGATCACACTTAATTGTACGTAAATAATGCACGTGTGCAGACTGTGCCAGCCTTCACCTGGGCAAGTGCAGAACAGGGTGAGCCTGCACACCACACGCCACACTCCCCAAGCCCTGTCGCTGGGCGGGGCTTATAGGAAGGCGGGGCACTGACTTCCTGGGTCTCTGTCTTCCAGAACATCCACCAGTGGTGTGGTTCCAACAGCAATCGGTATGAAAGACTGAAGGCCACACAGGTGTCCAAGGGCATCCGGGACAACGAGCGGAGTGGCCGGGCCCGAGTGCACGTGTCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAGGTGCCTGTGGGGTGCGCAATGGGGTGGCCATGGGGACACGCTGCTCATGACTTTCTTCTGTTCAGTAGGCAATTTGAGGTGAATTTGAGGAAAAAAAAAAACTTCCGCTCTACCCCACCTTTTTATTTTTAAAATACTTTTTTATTTTAATTTTTGAGACAGGATCTTATTCATTGTTGCCTGAGCTGGAGTGCAGGGGCGCCATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGAGTGCTACCAAGCCAGGCTAACTTTTGAATTTTTTGTAGGAATGAGGTCTTGCCATGTCGCTCAGGCTGGTCTCCAACTTCTGGGGTCAAACC
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Task1_train_13119
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This variant affects gene GSN (gelsolin) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; Inborn genetic diseases
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CCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAACAAGGTTTCCAGCCTTGGCTTGGCCACGCACTTGCTGAGTGCCCTTGAGTAAGTCACTTCACTTCTCTGGGCTTCAGTTTACCGTGGGTAAAGTGGGGTGAAGTAGAAGGACCTTTCCAACTCTGATTTGACAACTCTGGGGCATGGAGCTGGGGACTGCTCACAGGAAAGCCCAGCTGACTTTCCTTGGCTTGCTTCTGAGTGAGGGCAGTTGTGACTGCAGCAGGGAAGCTCTCCTGAACGCCTTGCTCTGGGATGCAGTAATGATTACAGAGGGCTGGGGAGCAGGAGCTTGTGTCTCCACTTCAGAAAGGAGAGGCCTGAGGCTCGGAAAGGGCAAGTGACTTACCCAAAGCCATCCAGCATTGTTGTGGCGGGGCACCTGTCCCTTACCCATAGCTGCTCTGAAGGGACTGCTGGGTGGGAGTTGCTGCGGTACCGTAGGGGAAAGCAGAAGGGTGGCATGGGCTGGAACAATCCAGAAAGACTTCCCAGAGAGCCTTGAAGGATGAGAAAGATTTGGATTAGTACCTCTCAAAGTGGCTTTTGCAAAATACTCAAGCTGGAGGCAGGATATGGTGAAGAAAAGTGGTTCTTGGGCTGGGTTCAGTGACTCACTCCTGTAATCCCAGCACCCAAGGATCTCTTGAGGCCAGGAGTTCAAGACCAGCTTAAACAGCATAGTGAGACCCCATGTCTACAATAAAATAAAATAAAATAAGTAAGCTGGGCACTGTGGCTCATAACTGTAGTCTTAGCCACTCGAGAGGCTGAGATGGGAGGATCATTCAAGTCCAGGAGTTTGAGGTTACAGTGAGCTGTGATTGTACCAATGCACTGCAGCCTGGGACAGAGTGAAACCCTGTTGAAAGGAAGGAAGAGAGAGAGAGAGCGGAAGGAAGGAGAGAGAGAGAGAAAGAGAGAAAGGAAGGAAGGAAAGGAAAGAGAGAGGGAAAGAGAATGAAAGAAAGAAAAAAAGAAAGGAAAGAAAAAAGAAAGAGGGAAAGAAAGAAAAGCAGTTCTTGGTTCAATAAGATAGGGAAATACTGTATAAAACAAAAGGCAAGCAGGTGTATTCACCATAGGATTTGACAGAGCCTTTATTATGCACATGCGCGTTGTATAACAGTCAGGGAGGGTGAGTGAGAAGCATTCCCTATGCTTATTTGACCGTGGAACTCTTTCCTTGCAGAATGTCTTAGGGGACTAGTGTGCCTTTGGGAAACGCCGGTTTTGAGGAAGGAATTGTTGCAGTTTTTTTGATTTAGAAAGTGGCTACAGGGGTCCTTGTTAGTGGAGTATGGGATTCAAAGGGGTGGCAGAAAGATGCAGTGGGCAGGGAATCTCTCACTTCTTAGCTGTGTGGCCTTGGGCAAATTTTATTCCTTTCCTAAACCTCAGTTTCCTACTCTGAAACAGTCTCAAACAAGATAATGGGTATGAAAGTCCTGAGTTAACTGAGAATCACTGTGTTGCTGGAAAGCCCCTGGTCCACAAGCCAGAATTTCCTTTACCTCAATTCTGTCCCCTTCTTCCATATCTGCTTCCCTGGGCCTTCTCCCCTGGGCTAATGCTGTCTCTTTGGCCCCACAGAAAGGAGGTGTGGCATCAGGATTCAAGCACGTGGTACCCAACGAGGTGGTGGTGCAGAGACTCTTCCAGGTCAAAGGGCGGCGTGTGGTCCGTGCCACCGAGGTACCTGTGTCCTGGGAGAGCTTCAACAATGGCGACTGCTTCATCCTGGACCTGGGCAACGTGAGTCCTGCTTTCCTCTTTCCCAGGAGCCACTGAGGTGCTCCTGGTCTGATCAGGGACTTGGGTACATCCACGTGAACAAATGCATAGATGCAGGTGGGCAAACCACAGGGACCAGCATTGTTCACGTACAGATATGTCTGTATGCAAAGACTCCCACAAATGTAGACTCACACCACGGGTATAGTGCGTACTTGGACTTTGATTGACATATAGACTTCCTGGCACCTTCTGTTCATATGTACGTCTTGTGTCCTTTTTCACATGCTTATAAATATATAACAGTCATGGGCAAACACTCTGGGCTTTTGCCCACCAGGTGTGCACATGTGCACCATCATGAATGCCCACACATGTATACTCGGGTATGTTGTTTAAGGTCCCACATGTGTATGTCATACATGTAGTTGCACATGCCCATGATCTATGGCAATGTGTGTGGGATGCCCTTACCCAGGCCCACCTTATAGATGTGTGACGCTTTGTACACACTTGTCTCACAAATCCCTGGAGCGCAGACCTGCAAATGGACACGGCCCTTCTACCCCAAAGCTCATATGCTTATACACCTGTGATATAATGTCCGTGCAAACATGAGCACACACTGATTTAGTGTAAGCTTTTTATTAAAGCGTCATGGGCACACAGAGGAGTGTGTGAATCCTGAGTGTACAGCTTGATGGATTACACAGAGCGAACACACTCACGTAACACTGGATCATGAAGCAGAACCTCACCAGCCCCTAGAAGGCCCCTTTTGCCCCTTTCGGTGCCCTCACCCCAAGGGCAACCATCATCCTGAACTTTCTCAACAGCATAGATGAGTTTTGCCTGTTTCTGAACTTTATAGACACGGAACCTTGTTCTTTTATCTCTGACCTTTTGCTCAACATTACATTTCTGAGATGCATCCGTATTGTTGCATTTAGTTGTAGGTTGTTCATTTTCCTTGCTGTGGAAGATTCAGTTGTGTGGGTGTACCATGATTTATGTATCCTTTATGTTGTTGATGGGCACTTGAGGTGGCTTCTGGTTTGGGGCTATTACAGACAGTGCTACTCTGAACATTCTTGCACAAGTCTTTTGGTGGACATACGAACGTACTTCTGTCAGGTATTTTCCTAGAAGGAGGATTGCTGGGTCATAAGGAAATAGGTATATTCGGCTTTAGTGGCTATGGCCAAATGGTTTTCCAAAATGGTTGTGCCAATTTATATTCCCTTCAGCAGGCAAACATTTTTGCACACATTCTAGATGTAGTTGTACCTGTGAAAAAATTCCTGTCCTCAGACATGCGCTCCCATCTCCTGGTGTGTGCAGATCACACTTAATTGTACGTAAATAATGCACGTGTGCAGACTGTGCCAGCCTTCACCTGGGCAAGTGCAGAACAGGGTGAGCCTGCACACCACACGCCACACTCCCCAAGCCCTGTCGCTGGGCGGGGCTTATAGGAAGGCGGGGCACTGACTTCCTGGGTCTCTGTCTTCCAGAACATCCACCAGTGGTGTGGTTCCAACAGCAATCGGTATGAAAGACTGAAGGCCACACAGGTGTCCAAGGGCATCCGGGACAACGAGCGGAGTGGCCGGGCCCGAGTGCACGTGTCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAGGTGCCTGTGGGGTGCGCAATGGGGTGGCCATGGGGACACGCTGCTCATGACTTTCTTCTGTTCAGTAGGCAATTTGAGGTGAATTTGAGGAAAAAAAAAAACTTCCGCTCTACCCCACCTTTTTATTTTTAAAATACTTTTTTATTTTAATTTTTGAGACAGGATCTTATTCATTGTTGCCTGAGCTGGAGTGCAGGGGCGCCATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGAGTGCTACCAAGCCAGGCTAACTTTTGAATTTTTTGTAGGAATGAGGTCTTGCCATGTCGCTCAGGCTGGTCTCCAACTTCTGGGGTCAAACC
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CCCCATTTTGCACATCAGTGCGATGCAGCAATGACACCTCCCTTGCAGGCGATGCGTGAAGAATGCCCGGCACAGTGGGCATCATCATTTCACAAACACGTATACTGCTGACACAGGAAGACAGAGCAGGAGCCCAATATACACGGACTCCGTTTGTCCCTTGCCCTCCTCGAGTCTGTGCGGCTAGAATTAGACTTAGCACAGTGGGCTGAGGGGCCCTGGATGGGGTGGCTGCATTGCTGGCCTGAGTGGAAGCCCTCTGCTTCCACCCCCATGTGTCTCCGGAGCAGGGAGACGAGCACCCGATTGGGAGGAGGAAACAAGGTTTCCAGCCTTGGCTTGGCCACGCACTTGCTGAGTGCCCTTGAGTAAGTCACTTCACTTCTCTGGGCTTCAGTTTACCGTGGGTAAAGTGGGGTGAAGTAGAAGGACCTTTCCAACTCTGATTTGACAACTCTGGGGCATGGAGCTGGGGACTGCTCACAGGAAAGCCCAGCTGACTTTCCTTGGCTTGCTTCTGAGTGAGGGCAGTTGTGACTGCAGCAGGGAAGCTCTCCTGAACGCCTTGCTCTGGGATGCAGTAATGATTACAGAGGGCTGGGGAGCAGGAGCTTGTGTCTCCACTTCAGAAAGGAGAGGCCTGAGGCTCGGAAAGGGCAAGTGACTTACCCAAAGCCATCCAGCATTGTTGTGGCGGGGCACCTGTCCCTTACCCATAGCTGCTCTGAAGGGACTGCTGGGTGGGAGTTGCTGCGGTACCGTAGGGGAAAGCAGAAGGGTGGCATGGGCTGGAACAATCCAGAAAGACTTCCCAGAGAGCCTTGAAGGATGAGAAAGATTTGGATTAGTACCTCTCAAAGTGGCTTTTGCAAAATACTCAAGCTGGAGGCAGGATATGGTGAAGAAAAGTGGTTCTTGGGCTGGGTTCAGTGACTCACTCCTGTAATCCCAGCACCCAAGGATCTCTTGAGGCCAGGAGTTCAAGACCAGCTTAAACAGCATAGTGAGACCCCATGTCTACAATAAAATAAAATAAAATAAGTAAGCTGGGCACTGTGGCTCATAACTGTAGTCTTAGCCACTCGAGAGGCTGAGATGGGAGGATCATTCAAGTCCAGGAGTTTGAGGTTACAGTGAGCTGTGATTGTACCAATGCACTGCAGCCTGGGACAGAGTGAAACCCTGTTGAAAGGAAGGAAGAGAGAGAGAGAGCGGAAGGAAGGAGAGAGAGAGAGAAAGAGAGAAAGGAAGGAAGGAAAGGAAAGAGAGAGGGAAAGAGAATGAAAGAAAGAAAAAAAGAAAGGAAAGAAAAAAGAAAGAGGGAAAGAAAGAAAAGCAGTTCTTGGTTCAATAAGATAGGGAAATACTGTATAAAACAAAAGGCAAGCAGGTGTATTCACCATAGGATTTGACAGAGCCTTTATTATGCACATGCGCGTTGTATAACAGTCAGGGAGGGTGAGTGAGAAGCATTCCCTATGCTTATTTGACCGTGGAACTCTTTCCTTGCAGAATGTCTTAGGGGACTAGTGTGCCTTTGGGAAACGCCGGTTTTGAGGAAGGAATTGTTGCAGTTTTTTTGATTTAGAAAGTGGCTACAGGGGTCCTTGTTAGTGGAGTATGGGATTCAAAGGGGTGGCAGAAAGATGCAGTGGGCAGGGAATCTCTCACTTCTTAGCTGTGTGGCCTTGGGCAAATTTTATTCCTTTCCTAAACCTCAGTTTCCTACTCTGAAACAGTCTCAAACAAGATAATGGGTATGAAAGTCCTGAGTTAACTGAGAATCACTGTGTTGCTGGAAAGCCCCTGGTCCACAAGCCAGAATTTCCTTTACCTCAATTCTGTCCCCTTCTTCCATATCTGCTTCCCTGGGCCTTCTCCCCTGGGCTAATGCTGTCTCTTTGGCCCCACAGAAAGGAGGTGTGGCATCAGGATTCAAGCACGTGGTACCCAACGAGGTGGTGGTGCAGAGACTCTTCCAGGTCAAAGGGCGGCGTGTGGTCCGTGCCACCGAGGTACCTGTGTCCTGGGAGAGCTTCAACAATGGCAACTGCTTCATCCTGGACCTGGGCAACGTGAGTCCTGCTTTCCTCTTTCCCAGGAGCCACTGAGGTGCTCCTGGTCTGATCAGGGACTTGGGTACATCCACGTGAACAAATGCATAGATGCAGGTGGGCAAACCACAGGGACCAGCATTGTTCACGTACAGATATGTCTGTATGCAAAGACTCCCACAAATGTAGACTCACACCACGGGTATAGTGCGTACTTGGACTTTGATTGACATATAGACTTCCTGGCACCTTCTGTTCATATGTACGTCTTGTGTCCTTTTTCACATGCTTATAAATATATAACAGTCATGGGCAAACACTCTGGGCTTTTGCCCACCAGGTGTGCACATGTGCACCATCATGAATGCCCACACATGTATACTCGGGTATGTTGTTTAAGGTCCCACATGTGTATGTCATACATGTAGTTGCACATGCCCATGATCTATGGCAATGTGTGTGGGATGCCCTTACCCAGGCCCACCTTATAGATGTGTGACGCTTTGTACACACTTGTCTCACAAATCCCTGGAGCGCAGACCTGCAAATGGACACGGCCCTTCTACCCCAAAGCTCATATGCTTATACACCTGTGATATAATGTCCGTGCAAACATGAGCACACACTGATTTAGTGTAAGCTTTTTATTAAAGCGTCATGGGCACACAGAGGAGTGTGTGAATCCTGAGTGTACAGCTTGATGGATTACACAGAGCGAACACACTCACGTAACACTGGATCATGAAGCAGAACCTCACCAGCCCCTAGAAGGCCCCTTTTGCCCCTTTCGGTGCCCTCACCCCAAGGGCAACCATCATCCTGAACTTTCTCAACAGCATAGATGAGTTTTGCCTGTTTCTGAACTTTATAGACACGGAACCTTGTTCTTTTATCTCTGACCTTTTGCTCAACATTACATTTCTGAGATGCATCCGTATTGTTGCATTTAGTTGTAGGTTGTTCATTTTCCTTGCTGTGGAAGATTCAGTTGTGTGGGTGTACCATGATTTATGTATCCTTTATGTTGTTGATGGGCACTTGAGGTGGCTTCTGGTTTGGGGCTATTACAGACAGTGCTACTCTGAACATTCTTGCACAAGTCTTTTGGTGGACATACGAACGTACTTCTGTCAGGTATTTTCCTAGAAGGAGGATTGCTGGGTCATAAGGAAATAGGTATATTCGGCTTTAGTGGCTATGGCCAAATGGTTTTCCAAAATGGTTGTGCCAATTTATATTCCCTTCAGCAGGCAAACATTTTTGCACACATTCTAGATGTAGTTGTACCTGTGAAAAAATTCCTGTCCTCAGACATGCGCTCCCATCTCCTGGTGTGTGCAGATCACACTTAATTGTACGTAAATAATGCACGTGTGCAGACTGTGCCAGCCTTCACCTGGGCAAGTGCAGAACAGGGTGAGCCTGCACACCACACGCCACACTCCCCAAGCCCTGTCGCTGGGCGGGGCTTATAGGAAGGCGGGGCACTGACTTCCTGGGTCTCTGTCTTCCAGAACATCCACCAGTGGTGTGGTTCCAACAGCAATCGGTATGAAAGACTGAAGGCCACACAGGTGTCCAAGGGCATCCGGGACAACGAGCGGAGTGGCCGGGCCCGAGTGCACGTGTCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAGGTGCCTGTGGGGTGCGCAATGGGGTGGCCATGGGGACACGCTGCTCATGACTTTCTTCTGTTCAGTAGGCAATTTGAGGTGAATTTGAGGAAAAAAAAAAACTTCCGCTCTACCCCACCTTTTTATTTTTAAAATACTTTTTTATTTTAATTTTTGAGACAGGATCTTATTCATTGTTGCCTGAGCTGGAGTGCAGGGGCGCCATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGAGTGCTACCAAGCCAGGCTAACTTTTGAATTTTTTGTAGGAATGAGGTCTTGCCATGTCGCTCAGGCTGGTCTCCAACTTCTGGGGTCAAACC
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Task1_train_13120
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This sequence variant lies in GSN (gelsolin) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Finnish type amyloidosis
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TTCCAGGAGGGACTCGCTATGTTCGGAAAGGAGGGAGCTATCCCAGGGGGCTAGTGCTGATGGCATCCCCAGGGAGGGGCCTTGAATGCCAATTTCAAGGGTGTAGACTTGATCCTCTAACCAGTGGGTGCTAGTGAGGGGTTTTTCTTTTTATTAAATCAGACATGCAACAGGCTCAGATTTATGCTTTATCTTTTTTTTTTTTTTTAATAGAGACAGGGTCTCGCTATGTTGCCCGGGCTAATTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCCCCCAAAGTGTTGGAATTACAGGCATGAGCCACTGCGCCCGGCCACCTGCTTTAGAAACTCACTGTGAAAATGGGTTGGAATATGACTCCAGGATATCATTAGAAGAAAAAAATCAGTTAAAAAATAAATAAAAGAAAAATAAAAAGAAAACTAAGAAAATGGATTGGAGGCAGGAAAATGAAGGTAGAGAGCTTATAAGGAGCTTGTTCTAATACTGTAGGGGAAAGATGATGACCTTGAGACTAAGAAGGTCACAGTGGAGAAGGGGAAGAGGGGTGTGGGGTTCAGAGGTGTTTAGGAGGTAGAATCCGCCTCAGGCAAACTTGACTCCGTTCCTAATGATAGGAATAACAAAGTGTTCATTTTTATATATTATTGTTTTTGGTTTGGTGCTAGCATTCATTTGTTGCTTCAGTGGCTAGGGAGAATGCAATGAAAATATTTCGGGTGGGGCGGTGTGGTAAGACCCCTGGCAGCCTGACTGTGAGACTTTGGGCAAGTTACATAACCTCTTTGAGCTTCACTTTCTCACTTGTAAAGTGGGGTTTCATCCCACTCCATCACCTTCAAGAATGTTCAAAATCCAGAGATTCTAGGATTCTGTTTCCCAGGACTTGGACGACTCCGTGTCTCCATAGCTCCACCAGGTGGCGCTGCCGGGCCTCGTGACCACTTGGAAAAAGCAGTGTCACCAGAACGCTGCGGAGACCTGCCAGCAGGGGTCACACTGAGGTTGCCTCGTGGTGTCCCTGCCTCTGCAGGTGACCTATGAAATTCCTGGCAGGCCCAGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCTGGCCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGAAAAATTGATTGAACCCGGGAGGCAGATGTTGCAGTGAGCCGAGATTGCGTCATTGCATTCTAGCCTGGGCAACAAGAGTGAAACCTCGTCTCAAAAAACAAAAAAAAAAAAAAGAAAAAAAGAAAGAATCCAGGCAGCTCAGTAACAATAGAGGTAATGGTGATATTAGTAAGATAATAATAATAATTATGACAATAAGAGCAGCTGCCACCTACAGAGCAGTCCCTTTGTGCCGGGCCCTGTGCTAGACTTTCACGAGTAATCTCGTTTGAGCCTCACAGTACTTTGAGGTAGGTACTATGATTATCCCCATTTTTCAGATGGGAAAACTGAGGCTAAGAGTGGTTAAGCCAGTTGTCTGAGGTCTCATGGCCCGGAAGGGGATGAGGGGCCTGATTTGGGGTCTGTGTCTGGCTCCTCCCCTCACTGTACTGCATTCCTTTGGAGCTGCCTTGACGATCCTCAGCGAAGGACAGACGGGCTGGGGCAGGGCATGGTATGAGGAGCCCAGGCAGGAACCCTGACCCAGAGTCCCAGCCCTGCCTTCTAGTGGCTCTGTGAGTTGGGCAAACCATTTAACTCCAGTCCGAGCCCAAGTGATTAAAAGTTCATCCCATGGCCTAACCACAACCTACCACACTGCGGTTTCCTGGCTTGCCTGAGCTGGGGGGTGGGGGTGCTGCACAGCATCTGACTCCAGCTTTGCTCCTGCAGATCTGGAGAATCGAAGGTTCCAACAAGGTGCCCGTGGACCCTGCCACATATGGACAGTTCTATGGAGGCGACAGCTACATCATTCTGTACAACTACCGCCATGGTGGCCGCCAGGGGCAGATAATCTATAACTGGTGAGGTTCTGGGGCCATTGGTGTGTGTCGTGGGGGTACTGGCTGGGCCCTGAGCAGGGCTGAAGACAAACTGAGGGTGTGAGGGCCTGAGGTGGGACCACCACTCCCTGCTGGGAGAGGCTTTTGTCCACAGGGCAACACCATTTGCTTATTTCTCCAAACAACTTTGAAACTCTTCTTACCAAATGATTATACATCTATTGTAGGATATAGTGAATGTGGAGAAACAAACAGAACATCTCCCACAAATCCATGACAAGTACTAGGCACACTAGGGTTTATCCTCCCACACATATTTTTCAAGCCAAAATTTTTTTAAATTTATATTTGTTTATTTATTTATTTATTTATTTATTTTGAGACAGAGTTTTTCTCTTGTTGCCTAGGCTGGAGTGCAGTGGTGCGGTCTCGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCTCTAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAAAGACGGGGTTTCACTATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGAGTGAGCCACCACACCCAGCCCCAAAATTATTTTAAAACAGAGAATACATTTACATGGTTCAAAAATCAAAACAGAATATAAAGGTATTTATTGAGAAATCTTATTCCCACCCCTGTCCCTCTCTACCCCATTCTCCAGACCCCACCCCTTCTTGGGTAACTGCTTTACTCTCTTGCATATCCTTCCAGTAACTCTTCGTGAAAAAAAATACATATGCAAATAATTTATAGCCTGGTCCCTCCCTTCCTTACACAAAAGGTAGCATACTTTGTATATTGCCCTGCACCTTGCTTTTCTGACTCCATTCTTCCTAGAGATCAATAATGTCAGTACATAGAGACAGAGAGCTTTCTCATTCTTTTTTACAGTTGCATAATAGTCCTTTGGGTGGCTGTACTATAGTTTATTTAACAAATTCCTTGATGATGCATACTTGGGTTGATTCCAGTCTTTCTCTATTACAAACATTGCTGTGATTAGTAACCTTAAACAAACATCACTTTGAACATGCAGAGACATGCCTCTAGAGTAAGTTCCCAGAAGTCAGATTGCTGGGTCAAAGAGTAACTGCACTTGTCATTTTGGTAGATAGCCCCCAATTTCCCTCGATAGTGTTCGTAGCATTTTACATTCCCACCAAGCAACCTGTGAGAGTCCCTGGTTCCCTATAGTCACACTCGTGGATTGTGTGGTCAAACTTTTGGGCGTTTGCCAATCTTATGGTTTATAAAATGGTGTCTCAGTGTATTTTTAACTTGTATTTCTCTTACTATACAGTCTAAAACTTTTTGTCTGATTATTGACTGTTGGATTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGGCCAGGCTGTAGTGCAGTGGTACGATCTCTGCTCACCACAACCTCTGCCCCCCGGGGCTCAAGCAATTATCGTGCCTCAGCCTCCTGAGTAGCTGGGACTACTTGCCACTACTCACCACCACACCCGGCTACTTTTTATACTTTAGTATGGATGGGGCTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTCTAAGCGATCTGCCTGCCCCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAAGCTGGATTCCTTCTTTTTTTAAACTTATTTTGAAATAATATTAGACACTTGCTGAAAAGTTGCAAAAATAGTACAGACAGTTCTCATATATCCATTACCCAATGGAATATTCACCTATGTTCACATCTTACATAACCCTTACATAACCATAGCACAATTAACAAAGCCAGGAAGTGAACATTGACACAATACTACTTACTAATCTATAGGCTTTACCTAAATTTCCTCAGTTTTCCCATTACCGTTTTTTTTTTTTTTTTTTA
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TTCCAGGAGGGACTCGCTATGTTCGGAAAGGAGGGAGCTATCCCAGGGGGCTAGTGCTGATGGCATCCCCAGGGAGGGGCCTTGAATGCCAATTTCAAGGGTGTAGACTTGATCCTCTAACCAGTGGGTGCTAGTGAGGGGTTTTTCTTTTTATTAAATCAGACATGCAACAGGCTCAGATTTATGCTTTATCTTTTTTTTTTTTTTTAATAGAGACAGGGTCTCGCTATGTTGCCCGGGCTAATTTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCGGCCCCCCAAAGTGTTGGAATTACAGGCATGAGCCACTGCGCCCGGCCACCTGCTTTAGAAACTCACTGTGAAAATGGGTTGGAATATGACTCCAGGATATCATTAGAAGAAAAAAATCAGTTAAAAAATAAATAAAAGAAAAATAAAAAGAAAACTAAGAAAATGGATTGGAGGCAGGAAAATGAAGGTAGAGAGCTTATAAGGAGCTTGTTCTAATACTGTAGGGGAAAGATGATGACCTTGAGACTAAGAAGGTCACAGTGGAGAAGGGGAAGAGGGGTGTGGGGTTCAGAGGTGTTTAGGAGGTAGAATCCGCCTCAGGCAAACTTGACTCCGTTCCTAATGATAGGAATAACAAAGTGTTCATTTTTATATATTATTGTTTTTGGTTTGGTGCTAGCATTCATTTGTTGCTTCAGTGGCTAGGGAGAATGCAATGAAAATATTTCGGGTGGGGCGGTGTGGTAAGACCCCTGGCAGCCTGACTGTGAGACTTTGGGCAAGTTACATAACCTCTTTGAGCTTCACTTTCTCACTTGTAAAGTGGGGTTTCATCCCACTCCATCACCTTCAAGAATGTTCAAAATCCAGAGATTCTAGGATTCTGTTTCCCAGGACTTGGACGACTCCGTGTCTCCATAGCTCCACCAGGTGGCGCTGCCGGGCCTCGTGACCACTTGGAAAAAGCAGTGTCACCAGAACGCTGCGGAGACCTGCCAGCAGGGGTCACACTGAGGTTGCCTCGTGGTGTCCCTGCCTCTGCAGGTGACCTATGAAATTCCTGGCAGGCCCAGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCTGGCCATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGAAAAATTGATTGAACCCGGGAGGCAGATGTTGCAGTGAGCCGAGATTGCGTCATTGCATTCTAGCCTGGGCAACAAGAGTGAAACCTCGTCTCAAAAAACAAAAAAAAAAAAAAGAAAAAAAGAAAGAATCCAGGCAGCTCAGTAACAATAGAGGTAATGGTGATATTAGTAAGATAATAATAATAATTATGACAATAAGAGCAGCTGCCACCTACAGAGCAGTCCCTTTGTGCCGGGCCCTGTGCTAGACTTTCACGAGTAATCTCGTTTGAGCCTCACAGTACTTTGAGGTAGGTACTATGATTATCCCCATTTTTCAGATGGGAAAACTGAGGCTAAGAGTGGTTAAGCCAGTTGTCTGAGGTCTCATGGCCCGGAAGGGGATGAGGGGCCTGATTTGGGGTCTGTGTCTGGCTCCTCCCCTCACTGTACTGCATTCCTTTGGAGCTGCCTTGACGATCCTCAGCGAAGGACAGACGGGCTGGGGCAGGGCATGGTATGAGGAGCCCAGGCAGGAACCCTGACCCAGAGTCCCAGCCCTGCCTTCTAGTGGCTCTGTGAGTTGGGCAAACCATTTAACTCCAGTCCGAGCCCAAGTGATTAAAAGTTCATCCCATGGCCTAACCACAACCTACCACACTGCGGTTTCCTGGCTTGCCTGAGCTGGGGGGTGGGGGTGCTGCACAGCATCTGACTCCAGCTTTGCTCCTGCAGATCTGGAGAATCGAAGGTTCCAACAAGGTGCCCGTGGACCCTGCCACATATGGACAGTTCTATGGAGGCGACAGCCACATCATTCTGTACAACTACCGCCATGGTGGCCGCCAGGGGCAGATAATCTATAACTGGTGAGGTTCTGGGGCCATTGGTGTGTGTCGTGGGGGTACTGGCTGGGCCCTGAGCAGGGCTGAAGACAAACTGAGGGTGTGAGGGCCTGAGGTGGGACCACCACTCCCTGCTGGGAGAGGCTTTTGTCCACAGGGCAACACCATTTGCTTATTTCTCCAAACAACTTTGAAACTCTTCTTACCAAATGATTATACATCTATTGTAGGATATAGTGAATGTGGAGAAACAAACAGAACATCTCCCACAAATCCATGACAAGTACTAGGCACACTAGGGTTTATCCTCCCACACATATTTTTCAAGCCAAAATTTTTTTAAATTTATATTTGTTTATTTATTTATTTATTTATTTATTTTGAGACAGAGTTTTTCTCTTGTTGCCTAGGCTGGAGTGCAGTGGTGCGGTCTCGCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCTCTAGTAGCTGGGATTACAGGCACCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAAAGACGGGGTTTCACTATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGAGTGAGCCACCACACCCAGCCCCAAAATTATTTTAAAACAGAGAATACATTTACATGGTTCAAAAATCAAAACAGAATATAAAGGTATTTATTGAGAAATCTTATTCCCACCCCTGTCCCTCTCTACCCCATTCTCCAGACCCCACCCCTTCTTGGGTAACTGCTTTACTCTCTTGCATATCCTTCCAGTAACTCTTCGTGAAAAAAAATACATATGCAAATAATTTATAGCCTGGTCCCTCCCTTCCTTACACAAAAGGTAGCATACTTTGTATATTGCCCTGCACCTTGCTTTTCTGACTCCATTCTTCCTAGAGATCAATAATGTCAGTACATAGAGACAGAGAGCTTTCTCATTCTTTTTTACAGTTGCATAATAGTCCTTTGGGTGGCTGTACTATAGTTTATTTAACAAATTCCTTGATGATGCATACTTGGGTTGATTCCAGTCTTTCTCTATTACAAACATTGCTGTGATTAGTAACCTTAAACAAACATCACTTTGAACATGCAGAGACATGCCTCTAGAGTAAGTTCCCAGAAGTCAGATTGCTGGGTCAAAGAGTAACTGCACTTGTCATTTTGGTAGATAGCCCCCAATTTCCCTCGATAGTGTTCGTAGCATTTTACATTCCCACCAAGCAACCTGTGAGAGTCCCTGGTTCCCTATAGTCACACTCGTGGATTGTGTGGTCAAACTTTTGGGCGTTTGCCAATCTTATGGTTTATAAAATGGTGTCTCAGTGTATTTTTAACTTGTATTTCTCTTACTATACAGTCTAAAACTTTTTGTCTGATTATTGACTGTTGGATTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGGCCAGGCTGTAGTGCAGTGGTACGATCTCTGCTCACCACAACCTCTGCCCCCCGGGGCTCAAGCAATTATCGTGCCTCAGCCTCCTGAGTAGCTGGGACTACTTGCCACTACTCACCACCACACCCGGCTACTTTTTATACTTTAGTATGGATGGGGCTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTCTAAGCGATCTGCCTGCCCCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACGCCAAGCTGGATTCCTTCTTTTTTTAAACTTATTTTGAAATAATATTAGACACTTGCTGAAAAGTTGCAAAAATAGTACAGACAGTTCTCATATATCCATTACCCAATGGAATATTCACCTATGTTCACATCTTACATAACCCTTACATAACCATAGCACAATTAACAAAGCCAGGAAGTGAACATTGACACAATACTACTTACTAATCTATAGGCTTTACCTAAATTTCCTCAGTTTTCCCATTACCGTTTTTTTTTTTTTTTTTTA
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Task1_train_13121
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This mutation is located in gene NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 37
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AAAAACAAAAAAAATGTTGCCCAGGCTAGTCCTGAACTCGTGAGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGTGTGAGCCATGGCACCTGATCGAGAAATACACTTTTGAAAAGAGTTAAGAGAATTTTTTTTTTATCTCACAGAGTTTTAAAAAATGTTAATACAAAGATTCAAGAATAAATATGCTTTCTTACTAGCATGACTTGTTATTTCTTCTTTCATAAGTCAGAAATGAGAAAAGGTAGTTTTATTTGTTACATGTATAAGTTCTACCACTTTCCAATCTAGAATTATCAACTATTTAAAATAATATGTTCAGTACATCAAAAAGTATCTGAAAATAATCAAGCCAGATATAAAAGACAAAAAAATTGCTAAGTTATTACTCATGACACCAAGCTTATAATCCAACCATTCACAGATGCTATACACAAAGAGAAGGGAACTAGACCGGGTATGGTGACCTGTAATCCCATCACACTGGGAGGCTAAGGTGGGAGGACTGCTTGAGCTCAGGATCTCAAGACCAGACTGGGTAATATAGCAAAATCCTGTCTCTACTAAAATACAAAAATTAGTTGGGCATGGTGGCCTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACCTGTGCCCAGGAAGTCAAGGCTGCAGTGAGCTGTGATCGCACCACTGCATTCCAGCCTAGGAGAGAGAGTAAGACCTGAGTTTTTTCCTCCATGCCTTGCTACCTGTGCTGCTCCACAGGGAACAGAGGGAGCTGAGGCTGAAGAAGCAGGGATGGGTCAGATCATAAAGGGCCTGCATGCCATGTTATGGAGAAGATGCTTTATCTCACCAGCAATGGAGAGTCCCCGTACAGTTTTTAAAAACACAGTGACATAAGATTTGTTTTCCACACAGATCACTCTTCTTGTGGAGGTGTAATTTAATCCTCAATTCTTCAATTTCATCTAAAGCCCACATTGATCCACCCTCCTCTCCCAGAAATTCATGTACCCCAGGTTAAGAACTCCTGTCCAAGAATAAGATAACAGCAGCAGGAACAATGAGAGGATTAAAAAAAAAATTCCAGAAGATGCTAATCTAAAGGAAGTGATGACTGCATGGAATCAGTAGGGAATGAAGAATTCAGGTTTCTAGCTCTGATGTTTCAACAGATGGTGGTGTCAAAACTAAGATAGGAAATATAGGAGAAAGAGAAACACTTTTAAAAGTACAAGAATGTAGTTTTAAAAAAAAAATCTTAGATATGTTCCTGAAAAATGTGGCATAAGCCTGATCCTATTTCCCCAGTGAATTCCACAATAACCTCCACAATGTTTTCAACTGACAGTGTTTCACTAATACTTTATCTTTCTCTACTCCCTTCTGTTCTTTAATTAGCTAATTAACTAAAAACAAACCTGCACATGCTAGAAGGCCTAAAGAAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGGAGGTAGTGGCACAATCTCCATTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTAGCGAGGATGGTCTCGATCTCCTGACCTCATGATTTGCCCACCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGAAATATTTCTATTTTTAAAAATTCCTTTCTGGATTGTGTATAATCACTGCCTAATTAATATGTTTGGTAAATCTGGTAAGTTCTTACATCATATCTGTATTTACAGAGACCCTTTGCTGACCACCTCCTGCCTTTATCCCACCCCTGAATCAGAAAGTGAGACCTCCAGCAGAAGCCTTTTTACCTTTGACAGTTCTCCCAGGTCAGGCCGCACCCAGCCCAGTTTGTCCAGCACACACTCGTCAAACTTTGCCTGCTGTTTGCGACAGTGACGAAATAACTGCTGGCCAGTATAATCAATGCAAGTCCAATATTCTGTAAAAGGCTCTGCACAGTGACGTTTTATCTGCCTGGAAAAGAAAGCTGGGTTAGGGGCATCTCTTTGCAAAACAATGAAAAACAGAAAAGTGAGAAAAAAATAGGTACAGATCTCAAATACATAGCCTTGCTTTTTGAAAGGTATGTGAGTACATATTCTTATCTCACTTACAAGACAACTTCAGGATCCTCAAGTTGAGAACAAGTTAGTAAACAAAAAAGATTTCTGAGGTAGAAAACCTAATTTCTTTATATAGTAAGAAGAAAAGAGTGTAGCCTAATGCACGCCTATTTTACTCAGAGAGGAACTCCTTACTTGGGGCCTATTTATTCTTTTCTTTAGATCCAATTCCTCTAAGGGTATCAGCTTAGCAAATTTAGAAGAGGAGGAGGCATAATTAAATAATGGACATGCTGATAGAAGTCAAACGTGACAGACAATGGCAAAGGAAGAGACAGAATTATAAAAAGCAAATACACAAACTAACAAGCAGAAGATCCTGGGATCATTCAGTATAAAGACAAACTGTACTCCACTCCTCAAAAGCTCAAGGTCCTCATTTTATTTACGCATTGAACAAAAATAGATATTAATCCTTGCTATCAAGAACAAAGTTATATTATATTTGGTATTCTCTGCTAAGAAGCAGGGTAGCATATAATTCATTCTGTGGCCATCAAAAATGGCTAGAGAAAATTTAACTTCTGTGTATAAAAAGAATAAGTTTCAGTTTTTTGCAAAATCCTCCTTATCTTATCATTCAACCCTACTAGTATGCATGTTCAAGCAAGAATAAAATATCATCATTTTATGTAAAAGCCATACTTGAGGCAGTGAAATTCAGAACACCTCTTTCTCCCAATGAAATAATAATTTTATTATTTAAGTGCTTACCTGTCATACTCCAGAAATCTAGCTACACTCTCACATGAATCTTGTTTAACATGGATCAGGAAGGAAGGATCTCAGAGATGGCTTAAGGAAGTATACAGTGAAAAATCTGCTTTCCACCCTGCCCAATAAGCCACTCAGTTGCTCTCCTAGAGGTCCACCAATGTCACCAGCTTCTTAGGTTTCCCTTCCGGGTATACTAAGCATAACCTGCACCCACATAACTTCTACTCAAGAATCACTTTGGTAGAAAGCAACCATTTCCAATGGGAGTTTTATATTCCTCCAAAATGCAGCAGCAGCAGACGGGCTGCAAGCCACTACTCTAGTAGCATGGATCCCTGTTCTGGACCCTGTTACCCATACCTAACAATTATCTACTAATGCCTACAACCAGCAACTTCAGCAGTGAGAAATTCCTCTATGGATTCACCTTGGGAATTTGTGAAATCCAAACATTCCCCGCTTAAAATGTACTACCACTGGACCATGGAAAAAATGCTTTGCAAAAGTTCTCTTAGAAAATAAAAATTGTTTAGGCTGGATGCTGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCCAAGGTAGGCGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAATTAGCCAGGCAGGTGGCACACACCCGTAATCCCAGCTACTCAGGTGGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGCGAACAAAGATCACGCCACAGCACTACAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAATTGTTTAAATAAACACACACACAGACTCAATCTCGCTGGCAATCAAATCAATGCAAATTGAAACATCCAAAAATATTTGCACCTCCCAAATATTTAAATACTATGCATACCAGAATCCAGCGCTGAGGACAGCATAAATTGATCCAACATTTAAAAAACAAAAGCATTTGCTGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGATCAGGAGATTGAGACCATGGTGAAACCCCGTCTCTACTA
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AAAAACAAAAAAAATGTTGCCCAGGCTAGTCCTGAACTCGTGAGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTAGAATTGCAGGTGTGAGCCATGGCACCTGATCGAGAAATACACTTTTGAAAAGAGTTAAGAGAATTTTTTTTTTATCTCACAGAGTTTTAAAAAATGTTAATACAAAGATTCAAGAATAAATATGCTTTCTTACTAGCATGACTTGTTATTTCTTCTTTCATAAGTCAGAAATGAGAAAAGGTAGTTTTATTTGTTACATGTATAAGTTCTACCACTTTCCAATCTAGAATTATCAACTATTTAAAATAATATGTTCAGTACATCAAAAAGTATCTGAAAATAATCAAGCCAGATATAAAAGACAAAAAAATTGCTAAGTTATTACTCATGACACCAAGCTTATAATCCAACCATTCACAGATGCTATACACAAAGAGAAGGGAACTAGACCGGGTATGGTGACCTGTAATCCCATCACACTGGGAGGCTAAGGTGGGAGGACTGCTTGAGCTCAGGATCTCAAGACCAGACTGGGTAATATAGCAAAATCCTGTCTCTACTAAAATACAAAAATTAGTTGGGCATGGTGGCCTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACCTGTGCCCAGGAAGTCAAGGCTGCAGTGAGCTGTGATCGCACCACTGCATTCCAGCCTAGGAGAGAGAGTAAGACCTGAGTTTTTTCCTCCATGCCTTGCTACCTGTGCTGCTCCACAGGGAACAGAGGGAGCTGAGGCTGAAGAAGCAGGGATGGGTCAGATCATAAAGGGCCTGCATGCCATGTTATGGAGAAGATGCTTTATCTCACCAGCAATGGAGAGTCCCCGTACAGTTTTTAAAAACACAGTGACATAAGATTTGTTTTCCACACAGATCACTCTTCTTGTGGAGGTGTAATTTAATCCTCAATTCTTCAATTTCATCTAAAGCCCACATTGATCCACCCTCCTCTCCCAGAAATTCATGTACCCCAGGTTAAGAACTCCTGTCCAAGAATAAGATAACAGCAGCAGGAACAATGAGAGGATTAAAAAAAAAATTCCAGAAGATGCTAATCTAAAGGAAGTGATGACTGCATGGAATCAGTAGGGAATGAAGAATTCAGGTTTCTAGCTCTGATGTTTCAACAGATGGTGGTGTCAAAACTAAGATAGGAAATATAGGAGAAAGAGAAACACTTTTAAAAGTACAAGAATGTAGTTTTAAAAAAAAAATCTTAGATATGTTCCTGAAAAATGTGGCATAAGCCTGATCCTATTTCCCCAGTGAATTCCACAATAACCTCCACAATGTTTTCAACTGACAGTGTTTCACTAATACTTTATCTTTCTCTACTCCCTTCTGTTCTTTAATTAGCTAATTAACTAAAAACAAACCTGCACATGCTAGAAGGCCTAAAGAAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGGAGGTAGTGGCACAATCTCCATTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTAGCGAGGATGGTCTCGATCTCCTGACCTCATGATTTGCCCACCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGAAATATTTCTATTTTTAAAAATTCCTTTCTGGATTGTGTATAATCACTGCCTAATTAATATGTTTGGTAAATCTGGTAAGTTCTTACATCATATCTGTATTTACAGAGACCCTTTGCTGACCACCTCCTGCCTTTATCCCACCCCTGAATCAGAAAGTGAGACCTCCAGCAGAAGCCTTTTTACCTTTGACAGTTCTCCCAGGTCAGGCCGCACCCAGCCCAGTTTGTCCAGCACACACTCGTCAAACTTTGCCTGCTGTTTGCGACAGTGAAGAAATAACTGCTGGCCAGTATAATCAATGCAAGTCCAATATTCTGTAAAAGGCTCTGCACAGTGACGTTTTATCTGCCTGGAAAAGAAAGCTGGGTTAGGGGCATCTCTTTGCAAAACAATGAAAAACAGAAAAGTGAGAAAAAAATAGGTACAGATCTCAAATACATAGCCTTGCTTTTTGAAAGGTATGTGAGTACATATTCTTATCTCACTTACAAGACAACTTCAGGATCCTCAAGTTGAGAACAAGTTAGTAAACAAAAAAGATTTCTGAGGTAGAAAACCTAATTTCTTTATATAGTAAGAAGAAAAGAGTGTAGCCTAATGCACGCCTATTTTACTCAGAGAGGAACTCCTTACTTGGGGCCTATTTATTCTTTTCTTTAGATCCAATTCCTCTAAGGGTATCAGCTTAGCAAATTTAGAAGAGGAGGAGGCATAATTAAATAATGGACATGCTGATAGAAGTCAAACGTGACAGACAATGGCAAAGGAAGAGACAGAATTATAAAAAGCAAATACACAAACTAACAAGCAGAAGATCCTGGGATCATTCAGTATAAAGACAAACTGTACTCCACTCCTCAAAAGCTCAAGGTCCTCATTTTATTTACGCATTGAACAAAAATAGATATTAATCCTTGCTATCAAGAACAAAGTTATATTATATTTGGTATTCTCTGCTAAGAAGCAGGGTAGCATATAATTCATTCTGTGGCCATCAAAAATGGCTAGAGAAAATTTAACTTCTGTGTATAAAAAGAATAAGTTTCAGTTTTTTGCAAAATCCTCCTTATCTTATCATTCAACCCTACTAGTATGCATGTTCAAGCAAGAATAAAATATCATCATTTTATGTAAAAGCCATACTTGAGGCAGTGAAATTCAGAACACCTCTTTCTCCCAATGAAATAATAATTTTATTATTTAAGTGCTTACCTGTCATACTCCAGAAATCTAGCTACACTCTCACATGAATCTTGTTTAACATGGATCAGGAAGGAAGGATCTCAGAGATGGCTTAAGGAAGTATACAGTGAAAAATCTGCTTTCCACCCTGCCCAATAAGCCACTCAGTTGCTCTCCTAGAGGTCCACCAATGTCACCAGCTTCTTAGGTTTCCCTTCCGGGTATACTAAGCATAACCTGCACCCACATAACTTCTACTCAAGAATCACTTTGGTAGAAAGCAACCATTTCCAATGGGAGTTTTATATTCCTCCAAAATGCAGCAGCAGCAGACGGGCTGCAAGCCACTACTCTAGTAGCATGGATCCCTGTTCTGGACCCTGTTACCCATACCTAACAATTATCTACTAATGCCTACAACCAGCAACTTCAGCAGTGAGAAATTCCTCTATGGATTCACCTTGGGAATTTGTGAAATCCAAACATTCCCCGCTTAAAATGTACTACCACTGGACCATGGAAAAAATGCTTTGCAAAAGTTCTCTTAGAAAATAAAAATTGTTTAGGCTGGATGCTGTGGCTCATGCCTGTAATCCCAGCACCTTGGGAGGCCAAGGTAGGCGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAACATACAAAAATTAGCCAGGCAGGTGGCACACACCCGTAATCCCAGCTACTCAGGTGGCTGAGGCACGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGCGAACAAAGATCACGCCACAGCACTACAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAATTGTTTAAATAAACACACACACAGACTCAATCTCGCTGGCAATCAAATCAATGCAAATTGAAACATCCAAAAATATTTGCACCTCCCAAATATTTAAATACTATGCATACCAGAATCCAGCGCTGAGGACAGCATAAATTGATCCAACATTTAAAAAACAAAAGCATTTGCTGGGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGATCAGGAGATTGAGACCATGGTGAAACCCCGTCTCTACTA
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Task1_train_13122
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A genetic alteration is present in NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 37
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GGTACTGGGTGCCCTATAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGCGAACCCGGGAGGCGGAGCTTGCAGTAAGCCAAGATCGTGCTACTGCACTCCAGCCTGGGCGACAGAGTGACACCCCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAATACAGTTCAAGAGCCATAATGATGTTCAAAGCCCTTTATAGAGTAAACTCACTGTTAGGAAATTTATGCCAAGGAATTATTAACTGATGAAAATGATCTATACGCAAAGGTAATCACTGCAGATTTATCCAAAATAATCAAAAACTGAAATCAACAATGATGTTCAATAACAGGAATTGGTCAGGTACGTTATGGTTGGTTTATCCACTGATGGAATAATATATAACCATTAAGAATGATGATCACGGCCAGGTGCGGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCCAAGGAGAGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTGAAACCCCATCTCTACCAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGCAGGCCTGTAGACCCAGCTATTCAGGAGGCTGAGACATGTGACTCGCTTGAAGCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATGATCATGAAGACTATATAGCAACTTCGAAGAGTGTTTCCAATAATATCAAGTGAAAAATGAATTTCTCAATGTATACATACTATGATTATAACCACAAAAATATCTTTGCATAGGGACAGAGACAGCAGAAGCAAGAAAGGAGGAAAGCAGCTACTGTGCTAAGGTATCTATTTTTTTTCTCTAACTTCATTGTAGTGGACATCGGTGGTTTCTGCCTAGCCAGCAGTCATTCCCCATTCTTCCGTAACATCCTTCTAATTTTCCTTTGGGAACAACCCCTCCCTGTCTCTCAGCAATGTGGTTTGGATGAAGCTAAGTCCACTCCCCATCTCAGGCCTGAGCAATCAGAGCTTTTTATCTCCTGAAGCACAAGTGATGCAATGATATGTATACGAAGTCCGCCAGCCAGGACAATTAGACTCAGTCCAGGAGCTTCTGCTCACTTCTGGATAAAGGGCACACTTTGTCTAGGTTTGCTAAGCAAGTATCAACAGAACAGCAACTCGAGTGGCTGGTGGCCATTTTTGGTACAGCAAGGTGAGAGTCTTTCCAAAATGAGGTCAACAGAGAAAACCAGAACTAAGAGATTGTGAAAAGAGGAGAGGCAAAAAGACATCAAGTAGTTGTGAAATTATTTAAGCCCTTGAATCCAGCCCTGCCTGATGCCAGGCCTATTTCTGGACTTCAGAGTTACAAGAGCCAATTTCCTTTGAGTTGACTTTCTCTCCTTTTAAATAGAGTGCTAATATGCTTGTTAAAACATTTTCCTACAATTACACAGCTTAGTTTTTTTTTACTTAAGTATCATGCACAATGACCTACGTAAAACCTAACTCCGCATACAGTTTTCTTTCCATCATACCTGTGTTCTGTAGTAATGACAACAACCTAGTGAATGCCTGCTTAAAAAGGACTGTGATAGGTTGTTTTACGTGCCTTTTCAAATTTTTCACAGCAAAAAGACTTTCCCCTTGCTGTAGCAAAAATGGTCACCAGTCACTTGCTTAGCAAACCTAGATAGGTATTATTTTACAATTTGGAAACTGAGATTCATGGAGATAAAAGAACTTGCCAGATAATAAAAACAAAACCAAAAATAATTATCATCCTTTGAATGTTTTACCTTGGTCTGATTTCAAAGCCTATGTACTTCCTAATAAAATCCAGATTATTAGCTGGCTGTTCACTTATTCATTTAAACCTTTATGCTTCAACCAAGTAGGCACTGATACCAAAGATTTTTACCTAAAGAAGTCCAAAGCACACTTGTTGACCAGTTTGCCTTCCTCTAAACACCGCCTCGGATCTTTCTCTTCCCAGCGGCAGAGCATAAACTCCTTGTTGGGCTTATCACATTGAGCTCCATAGTGATGGGCCGCAGCTTTAAGCACAGCAGAACTAATTTTCACCTAGGAAAGGAAAGATGGGACAAAGGCCACAGACTGTGAACCAGAATACCACTTTCTCAGCTTTACCTCATGCGGGTCAGAATAGAGAACACAAAAGTAGCACTGTTCTGACTTTACCAAGAAAATTAAACACTGTCATAATAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCCATTCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACTTCGGCCTCCGAGGCTCAAGCGATTCTGCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATAAGCCACCTCGCCCAGCGATTCTTTAAAATCTATGGTGATTTAGAGAACGCAAAGCTCTTTCACATATATTATTTTCTTCACTTTTACAATAGTCTCATGAAGAGATTAATATTCCCATTTTAGAGCAGAAGAAATGGCACCCCTAATAGAATCTTTATTTATGGTAGAGAGAAAAGGGGTGTAGAGAAGGATGGAGTCTTCTGGGATGCAGGGAGAGGAACCAACTCTGGAGAGCTTTGCTGAGTTTCTGCTGCTGGAATAAAATTAATAGATATATAAGGCTGGGCACAGTGGCTCATACAGGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGCAGATCACTTGAGGCCAGGAACTCAAGAACAGCCTGGCCAACATGGTGAAAGCTTGTCTTTAGTAAAGATACTAGAGATGTATCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTAGGGAGGTTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCGGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAGGATAAATAAAACTCCCAGAGGACTACGGAGTCACAGAAGATGAGGCTGGAAGAGATCACAAAGAGCATCTAGTCCATCTAGTAATAGTCCATCTAGTAATAGTCCATCTAGTAATAACTAATAATAAAGTACTAAAATCTGCAAATTTTTTAAAAATCAGAGCGTATCCAAGGTTGCCACCCCTTTAACTATGCCCACCAGTTTTGCTCAATAGTATTTTAGTGATATTTTCTTGAGAAGATACACAGTGTAGATATAGCCAGCTCAGAGAGAACTGCAAACTGTCCAGGGCCTACAAACAGCTGCTTAAGCAAGAGACCTGTGGTCCCTTTTCTGTACTACCTTTTCTTATACCAATACCACAATGTTTTAATTACTGTCACTGAAGATAACATTTTGTTATCTGGGAGAACCATCCTCCTCATTCTTCCTTTTCAAAACTTTTTTGGCTATTCTTTCAGATGAACACCTTCCCCCAATAATTTGCATTCAAATTGTATTAAATTTAGTTATATGTTAAATTAGGGAACAATGGGCAGTTTTTATAATACTGGGTGCCTGCTCAAACTTCACATCCTCAGAGAGCCTCTCTCTAATCATCTTATATAAGCTATCATCAGTGGTCACTCATGTGGTCTGGTCTTAGCATTCATGTGCTAAGTCTGATCAATTCTAGACATACTTGTTCTTTCCTCTCTGTAAGCACAGTTTCTGTGTTAAGCACCAATTACACTGGGGTCATTAACATCTTTCTCAATAATTTTAAGAGCCCCTGAGTGGTCTGTGTGTGACTAGAACATAAGCTCCCAGAGGGAAGGGATTTTGTTTTCAACAGAGATCCACTACTGTAAAGATATCAATTCTCCCCAAATTAAGCTATGGTAATTAAATATAATGTTGACTACGGTACACACCAAGCACCCAAAATAGTGTCTAGCACAAGTAGCTGTTGAGCACCCACTCTTTGCTAGAAAATGGGGATACAATAATTAGAAAACAGATATGAATACATCAATCACACCTTCTCATCCACAACACAGTATTTCTCTCCATTTATTCATA
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GGTACTGGGTGCCCTATAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGCGAACCCGGGAGGCGGAGCTTGCAGTAAGCCAAGATCGTGCTACTGCACTCCAGCCTGGGCGACAGAGTGACACCCCATCACAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAATACAGTTCAAGAGCCATAATGATGTTCAAAGCCCTTTATAGAGTAAACTCACTGTTAGGAAATTTATGCCAAGGAATTATTAACTGATGAAAATGATCTATACGCAAAGGTAATCACTGCAGATTTATCCAAAATAATCAAAAACTGAAATCAACAATGATGTTCAATAACAGGAATTGGTCAGGTACGTTATGGTTGGTTTATCCACTGATGGAATAATATATAACCATTAAGAATGATGATCACGGCCAGGTGCGGTGGCTCACACCTGCAATCCCAGCACTTTGGGAGGCCAAGGAGAGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGCTGAAACCCCATCTCTACCAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGCAGGCCTGTAGACCCAGCTATTCAGGAGGCTGAGACATGTGACTCGCTTGAAGCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATGATCATGAAGACTATATAGCAACTTCGAAGAGTGTTTCCAATAATATCAAGTGAAAAATGAATTTCTCAATGTATACATACTATGATTATAACCACAAAAATATCTTTGCATAGGGACAGAGACAGCAGAAGCAAGAAAGGAGGAAAGCAGCTACTGTGCTAAGGTATCTATTTTTTTTCTCTAACTTCATTGTAGTGGACATCGGTGGTTTCTGCCTAGCCAGCAGTCATTCCCCATTCTTCCGTAACATCCTTCTAATTTTCCTTTGGGAACAACCCCTCCCTGTCTCTCAGCAATGTGGTTTGGATGAAGCTAAGTCCACTCCCCATCTCAGGCCTGAGCAATCAGAGCTTTTTATCTCCTGAAGCACAAGTGATGCAATGATATGTATACGAAGTCCGCCAGCCAGGACAATTAGACTCAGTCCAGGAGCTTCTGCTCACTTCTGGATAAAGGGCACACTTTGTCTAGGTTTGCTAAGCAAGTATCAACAGAACAGCAACTCGAGTGGCTGGTGGCCATTTTTGGTACAGCAAGGTGAGAGTCTTTCCAAAATGAGGTCAACAGAGAAAACCAGAACTAAGAGATTGTGAAAAGAGGAGAGGCAAAAAGACATCAAGTAGTTGTGAAATTATTTAAGCCCTTGAATCCAGCCCTGCCTGATGCCAGGCCTATTTCTGGACTTCAGAGTTACAAGAGCCAATTTCCTTTGAGTTGACTTTCTCTCCTTTTAAATAGAGTGCTAATATGCTTGTTAAAACATTTTCCTACAATTACACAGCTTAGTTTTTTTTTACTTAAGTATCATGCACAATGACCTACGTAAAACCTAACTCCGCATACAGTTTTCTTTCCATCATACCTGTGTTCTGTAGTAATGACAACAACCTAGTGAATGCCTGCTTAAAAAGGACTGTGATAGGTTGTTTTACGTGCCTTTTCAAATTTTTCACAGCAAAAAGACTTTCCCCTTGCTGTAGCAAAAATGGTCACCAGTCACTTGCTTAGCAAACCTAGATAGGTATTATTTTACAATTTGGAAACTGAGATTCATGGAGATAAAAGAACTTGCCAGATAATAAAAACAAAACCAAAAATAATTATCATCCTTTGAATGTTTTACCTTGGTCTGATTTCAAAGCCTATGTACTTCCTAATAAAATCCAGATTATTAGCTGGCTGTTCACTTATTCATTTAAACCTTTATGCTTCAACCAAGTAGGCACTGATACCAAAGATTTTTACCTAAAGAAGTCCAAAGCACACTTGTTGACCAGTTTGCCTTCCTCTAAACACCGCCTCGGATCTTTCTCTTCCCAGCAGCAGAGCATAAACTCCTTGTTGGGCTTATCACATTGAGCTCCATAGTGATGGGCCGCAGCTTTAAGCACAGCAGAACTAATTTTCACCTAGGAAAGGAAAGATGGGACAAAGGCCACAGACTGTGAACCAGAATACCACTTTCTCAGCTTTACCTCATGCGGGTCAGAATAGAGAACACAAAAGTAGCACTGTTCTGACTTTACCAAGAAAATTAAACACTGTCATAATAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCCATTCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTACTGCAACTTCGGCCTCCGAGGCTCAAGCGATTCTGCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATAAGCCACCTCGCCCAGCGATTCTTTAAAATCTATGGTGATTTAGAGAACGCAAAGCTCTTTCACATATATTATTTTCTTCACTTTTACAATAGTCTCATGAAGAGATTAATATTCCCATTTTAGAGCAGAAGAAATGGCACCCCTAATAGAATCTTTATTTATGGTAGAGAGAAAAGGGGTGTAGAGAAGGATGGAGTCTTCTGGGATGCAGGGAGAGGAACCAACTCTGGAGAGCTTTGCTGAGTTTCTGCTGCTGGAATAAAATTAATAGATATATAAGGCTGGGCACAGTGGCTCATACAGGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGCAGATCACTTGAGGCCAGGAACTCAAGAACAGCCTGGCCAACATGGTGAAAGCTTGTCTTTAGTAAAGATACTAGAGATGTATCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTAGGGAGGTTGAGGCATGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCTACTGCACTCCAGCCGGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAATTAAATTAAATTAAATTAAATTAAAGGATAAATAAAACTCCCAGAGGACTACGGAGTCACAGAAGATGAGGCTGGAAGAGATCACAAAGAGCATCTAGTCCATCTAGTAATAGTCCATCTAGTAATAGTCCATCTAGTAATAACTAATAATAAAGTACTAAAATCTGCAAATTTTTTAAAAATCAGAGCGTATCCAAGGTTGCCACCCCTTTAACTATGCCCACCAGTTTTGCTCAATAGTATTTTAGTGATATTTTCTTGAGAAGATACACAGTGTAGATATAGCCAGCTCAGAGAGAACTGCAAACTGTCCAGGGCCTACAAACAGCTGCTTAAGCAAGAGACCTGTGGTCCCTTTTCTGTACTACCTTTTCTTATACCAATACCACAATGTTTTAATTACTGTCACTGAAGATAACATTTTGTTATCTGGGAGAACCATCCTCCTCATTCTTCCTTTTCAAAACTTTTTTGGCTATTCTTTCAGATGAACACCTTCCCCCAATAATTTGCATTCAAATTGTATTAAATTTAGTTATATGTTAAATTAGGGAACAATGGGCAGTTTTTATAATACTGGGTGCCTGCTCAAACTTCACATCCTCAGAGAGCCTCTCTCTAATCATCTTATATAAGCTATCATCAGTGGTCACTCATGTGGTCTGGTCTTAGCATTCATGTGCTAAGTCTGATCAATTCTAGACATACTTGTTCTTTCCTCTCTGTAAGCACAGTTTCTGTGTTAAGCACCAATTACACTGGGGTCATTAACATCTTTCTCAATAATTTTAAGAGCCCCTGAGTGGTCTGTGTGTGACTAGAACATAAGCTCCCAGAGGGAAGGGATTTTGTTTTCAACAGAGATCCACTACTGTAAAGATATCAATTCTCCCCAAATTAAGCTATGGTAATTAAATATAATGTTGACTACGGTACACACCAAGCACCCAAAATAGTGTCTAGCACAAGTAGCTGTTGAGCACCCACTCTTTGCTAGAAAATGGGGATACAATAATTAGAAAACAGATATGAATACATCAATCACACCTTCTCATCCACAACACAGTATTTCTCTCCATTTATTCATA
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Task1_train_13123
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A mutation in CRB2 (crumbs cell polarity complex component 2), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Focal segmental glomerulosclerosis 9
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GGCAATGGAGCCGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCCCTGGGGCAGAGGGACTGAGGGGTTAGAGCCTGGGAGGCCACTCAGAGTGCCTTGGGTACTTGCACTACCCCACTAGCTCCTCCATGCCATCACTCTGTCCATAAAAGCCATGTCAGGCCCTTTGCTGGGCACCAAGGACATATTCAGGTCCCTGAAGATCTCAGCTGAGTAAACAAATACTTTTAATACAGGGTTCTGGGGAGCTGTGCCTGGGACTGCAGAGTGACACAGTAGTTTGAGGTTGGGAGTTAGGGAAAGCCTCTGGGCCCTTTGAGTTTGGGCTTTGCAGGATGAGTAGGAGTTTGAAAGGAAGGGTAAGGGTGAATGAGGCATTCCAAGCAGACAGAACAGTATGAGCAAAGCCCCAGAGTCACGACTTTCCAGGAAATGCTCGGAGGAATGGGACGTTCAAGATTTGTGGGAAGCAGGATTGAGGCTTGAGAGCCTGGTAGGACCCAGCCCATGAGGGTGTCTTAAATGTCAGGGTGAGTGATTGGACTTCAGGCGGCAGAGGAACCCAGCCTGGCGATGCTTTAGAAATGGACCTCTGGCTACTGGTGGAGATGGATGGGAAAGGGCTTCTGAAGGCTGGCGAACTGGGGGATGCGGGATGGTAGCCCAGACAGCTGGTAAGGCAGGAGATGGGGGGTAGGAGAAAGGGGCATTGGAGAATGTTTAGGAGATTAAATCTACAGGGCCTGGACACTCACCAGACATGAGAAGGGAAGGGGCATCTTGGCTTCTGGCCTACGGGGGGACTTGAGGGGACCATGAGAAATCCTCTGGGAATTGGTTTGGCTGATAGGTACTGAGGTCCCCATCATAAGAGGCATGTAAGTTCTGGGTCAGTACTGTGATTCTGGCCCCAGACATTACTGAACCTTGGCTTTGTCTCTCCCAAAGGGCCGACATGTGAGGAAGATGTGGATGAATGCCTGTCGGATCCCTGCCTGCACGGCGGAACCTGCAGTGACACTGTGGCAGGCTATATCTGCAGGTGCCCAGAGACCTGGGGTGGGCGCGACTGTTCTGTGCAGCTCACTGGCTGCCAGGGCCACACCTGCCCGCTGGCTGCCACCTGCATCCCTATCTTCGAGTCTGGGGTCCACAGTTACGTCTGCCACTGCCCACCTGGTACCCATGGACCGTTCTGTGGCCAGAATACCACCTTCTCTGTGATGGCTGGGAGCCCCATTCAGGCATCAGTGCCAGCTGGTGGCCCCCTGGGTCTGGCACTGAGGTTTCGCACCACACTGCCCGCTGGGACCTTGGCCACTCGCAATGACACCAAGGAAAGCTTGGAGCTGGCATTGGTGGCAGCCACACTTCAGGCCACACTCTGGAGCTACAGCACCACTGTGCTTGTCCTGAGACTGCCGGACCTGGCCCTAAACGATGGCCATTGGCACCAGGTGGAGGTTGTGCTCCATCTAGCGACCCTGGAGCTACGGCTCTGGCATGAGGGCTGCCCTGCCCGGCTCTGTGTGGCCTCTGGTCCTGTGGCCCTGGCTTCCACGGCTTCGGCAACTCCGCTGCCTGCCGGGATCTCCTCTGCCCAGCTGGGGGACGCGACCTTTGCAGGCTGCCTCCAGGACGTGCGTGTGGATGGCCACCTCCTGCTGCCTGAGGATCTCGGTGAGAACGTCCTCCTGGGCTGTGAGCGCCGAGAGCAGTGCCGGCCTCTGCCTTGTGTCCACGGAGGGTCCTGTGTGGATCTGTGGACTCATTTCCGTTGCGACTGTGCCCGGCCCCATAGAGGTCCCACGTGCGCTGATGGTGAGGAATAAGCCAGGTGGGAAGGCAGCACCTGAGATCTGCCTCCCTCAGCCTGCAGGCCTCACACCTGGCACCTTCTCTCCCTGCAGAGATTCCTGCTGCCACCTTTGGCTTGGGAGGCGCCCCAAGCTCTGCCTCCTTTCTGCTCCAAGAGCTGCCAGGTCCCAACCTCACAGTGTCTTTCCTTCTCCGCACTCGGGAGTCCGCTGGCCTGTTGCTCCAGTTTGCCAATGACTCCGCAGCTGGCCTAACAGTATTCCTGAGTGAGGGTCGGATCCGGGCTGAGGTGCCGGGCAGTCCTGCTGTAGTGCTCCCTGGGCGCTGGGATGATGGGCTCCGTCACCTGGTGATGCTCAGCTTCGGGCCTGACCAGCTGCAGGACCTGGGGCAGCACGTGCACGTGGGTGGGAGGCTCCTTGCTGCCGACAGCCAGCCCTGGGGTGGGCCCTTCCGAGGCTGCCTCCAGGACCTGCGACTCGATGGCTGCCACCTCCCCTTCTTTCCTCTGCCACTGGATAACTCAAGCCAGCCCAGCGAGCTCGGCGGCAGGCAGTCCTGGAACCTCACTGCGGGCTGCGTCTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCCTGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCG
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GGCAATGGAGCCGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCCCTGGGGCAGAGGGACTGAGGGGTTAGAGCCTGGGAGGCCACTCAGAGTGCCTTGGGTACTTGCACTACCCCACTAGCTCCTCCATGCCATCACTCTGTCCATAAAAGCCATGTCAGGCCCTTTGCTGGGCACCAAGGACATATTCAGGTCCCTGAAGATCTCAGCTGAGTAAACAAATACTTTTAATACAGGGTTCTGGGGAGCTGTGCCTGGGACTGCAGAGTGACACAGTAGTTTGAGGTTGGGAGTTAGGGAAAGCCTCTGGGCCCTTTGAGTTTGGGCTTTGCAGGATGAGTAGGAGTTTGAAAGGAAGGGTAAGGGTGAATGAGGCATTCCAAGCAGACAGAACAGTATGAGCAAAGCCCCAGAGTCACGACTTTCCAGGAAATGCTCGGAGGAATGGGACGTTCAAGATTTGTGGGAAGCAGGATTGAGGCTTGAGAGCCTGGTAGGACCCAGCCCATGAGGGTGTCTTAAATGTCAGGGTGAGTGATTGGACTTCAGGCGGCAGAGGAACCCAGCCTGGCGATGCTTTAGAAATGGACCTCTGGCTACTGGTGGAGATGGATGGGAAAGGGCTTCTGAAGGCTGGCGAACTGGGGGATGCGGGATGGTAGCCCAGACAGCTGGTAAGGCAGGAGATGGGGGGTAGGAGAAAGGGGCATTGGAGAATGTTTAGGAGATTAAATCTACAGGGCCTGGACACTCACCAGACATGAGAAGGGAAGGGGCATCTTGGCTTCTGGCCTACGGGGGGACTTGAGGGGACCATGAGAAATCCTCTGGGAATTGGTTTGGCTGATAGGTACTGAGGTCCCCATCATAAGAGGCATGTAAGTTCTGGGTCAGTACTGTGATTCTGGCCCCAGACATTACTGAACCTTGGCTTTGTCTCTCCCAAAGGGCCGACATGTGAGGAAGATGTGGATGAATGCCTGTCGGATCCCTGCCTGCACGGCGGAACCTGCAGTGACACTGTGGCAGGCTATATCTGCAGGTGCCCAGAGACCTGGGGTGGGCGCGACTGTTCTGTGCAGCTCACTGGCTGCCAGGGCCACACCTGCCCGCTGGCTGCCACCTGCATCCCTATCTTCGAGTCTGGGGTCCACAGTTACGTCTGCCACTGCCCACCTGGTACCCATGGACCGTTCTGTGGCCAGAATACCACCTTCTCTGTGATGGCTGGGAGCCCCATTCAGGCATCAGTGCCAGCTGGTGGCCCCCTGGGTCTGGCACTGAGGTTTCGCACCACACTGCCCGCTGGGACCTTGGCCACTCGCAATGACACCAAGGAAAGCTTGGAGCTGGCATTGGTGGCAGCCACACTTCAGGCCACACTCTGGAGCTACAGCACCACTGTGCTTGTCCTGAGACTGCCGGACCTGGCCCTAAACGATGGCCATTGGCACCAGGTGGAGGTTGTGCTCCATCTAGCGACCCTGGAGCTACGGCTCTGGCATGAGGGCTGCCCTGCCCGGCTCTGTGTGGCCTCTGGTCCTGTGGCCCTGGCTTCCACGGCTTCGGCAACTCCGCTGCCTGCCGGGATCTCCTCTGCCCAGCTGGGGGACGCGACCTTTGCAGGCTGCCTCCAGGACGTGCGTGTGGATGGCCACCTCCTGCTGCCTGAGGATCTCGGTGAGAACGTCCTCCTGGGCTGTGAGCGCCGAGAGCAGTGCCGGCCTCTGCCTTGTGTCCACGGAGGGTCCTGTGTGGATCTGTGGACTCATTTCCGTTCCGACTGTGCCCGGCCCCATAGAGGTCCCACGTGCGCTGATGGTGAGGAATAAGCCAGGTGGGAAGGCAGCACCTGAGATCTGCCTCCCTCAGCCTGCAGGCCTCACACCTGGCACCTTCTCTCCCTGCAGAGATTCCTGCTGCCACCTTTGGCTTGGGAGGCGCCCCAAGCTCTGCCTCCTTTCTGCTCCAAGAGCTGCCAGGTCCCAACCTCACAGTGTCTTTCCTTCTCCGCACTCGGGAGTCCGCTGGCCTGTTGCTCCAGTTTGCCAATGACTCCGCAGCTGGCCTAACAGTATTCCTGAGTGAGGGTCGGATCCGGGCTGAGGTGCCGGGCAGTCCTGCTGTAGTGCTCCCTGGGCGCTGGGATGATGGGCTCCGTCACCTGGTGATGCTCAGCTTCGGGCCTGACCAGCTGCAGGACCTGGGGCAGCACGTGCACGTGGGTGGGAGGCTCCTTGCTGCCGACAGCCAGCCCTGGGGTGGGCCCTTCCGAGGCTGCCTCCAGGACCTGCGACTCGATGGCTGCCACCTCCCCTTCTTTCCTCTGCCACTGGATAACTCAAGCCAGCCCAGCGAGCTCGGCGGCAGGCAGTCCTGGAACCTCACTGCGGGCTGCGTCTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCCTGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCG
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Task1_train_13124
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A variant has been detected on Chromosome 9 in CRB2 (crumbs cell polarity complex component 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Ventriculomegaly-cystic kidney disease
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CGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCCCTGGGGCAGAGGGACTGAGGGGTTAGAGCCTGGGAGGCCACTCAGAGTGCCTTGGGTACTTGCACTACCCCACTAGCTCCTCCATGCCATCACTCTGTCCATAAAAGCCATGTCAGGCCCTTTGCTGGGCACCAAGGACATATTCAGGTCCCTGAAGATCTCAGCTGAGTAAACAAATACTTTTAATACAGGGTTCTGGGGAGCTGTGCCTGGGACTGCAGAGTGACACAGTAGTTTGAGGTTGGGAGTTAGGGAAAGCCTCTGGGCCCTTTGAGTTTGGGCTTTGCAGGATGAGTAGGAGTTTGAAAGGAAGGGTAAGGGTGAATGAGGCATTCCAAGCAGACAGAACAGTATGAGCAAAGCCCCAGAGTCACGACTTTCCAGGAAATGCTCGGAGGAATGGGACGTTCAAGATTTGTGGGAAGCAGGATTGAGGCTTGAGAGCCTGGTAGGACCCAGCCCATGAGGGTGTCTTAAATGTCAGGGTGAGTGATTGGACTTCAGGCGGCAGAGGAACCCAGCCTGGCGATGCTTTAGAAATGGACCTCTGGCTACTGGTGGAGATGGATGGGAAAGGGCTTCTGAAGGCTGGCGAACTGGGGGATGCGGGATGGTAGCCCAGACAGCTGGTAAGGCAGGAGATGGGGGGTAGGAGAAAGGGGCATTGGAGAATGTTTAGGAGATTAAATCTACAGGGCCTGGACACTCACCAGACATGAGAAGGGAAGGGGCATCTTGGCTTCTGGCCTACGGGGGGACTTGAGGGGACCATGAGAAATCCTCTGGGAATTGGTTTGGCTGATAGGTACTGAGGTCCCCATCATAAGAGGCATGTAAGTTCTGGGTCAGTACTGTGATTCTGGCCCCAGACATTACTGAACCTTGGCTTTGTCTCTCCCAAAGGGCCGACATGTGAGGAAGATGTGGATGAATGCCTGTCGGATCCCTGCCTGCACGGCGGAACCTGCAGTGACACTGTGGCAGGCTATATCTGCAGGTGCCCAGAGACCTGGGGTGGGCGCGACTGTTCTGTGCAGCTCACTGGCTGCCAGGGCCACACCTGCCCGCTGGCTGCCACCTGCATCCCTATCTTCGAGTCTGGGGTCCACAGTTACGTCTGCCACTGCCCACCTGGTACCCATGGACCGTTCTGTGGCCAGAATACCACCTTCTCTGTGATGGCTGGGAGCCCCATTCAGGCATCAGTGCCAGCTGGTGGCCCCCTGGGTCTGGCACTGAGGTTTCGCACCACACTGCCCGCTGGGACCTTGGCCACTCGCAATGACACCAAGGAAAGCTTGGAGCTGGCATTGGTGGCAGCCACACTTCAGGCCACACTCTGGAGCTACAGCACCACTGTGCTTGTCCTGAGACTGCCGGACCTGGCCCTAAACGATGGCCATTGGCACCAGGTGGAGGTTGTGCTCCATCTAGCGACCCTGGAGCTACGGCTCTGGCATGAGGGCTGCCCTGCCCGGCTCTGTGTGGCCTCTGGTCCTGTGGCCCTGGCTTCCACGGCTTCGGCAACTCCGCTGCCTGCCGGGATCTCCTCTGCCCAGCTGGGGGACGCGACCTTTGCAGGCTGCCTCCAGGACGTGCGTGTGGATGGCCACCTCCTGCTGCCTGAGGATCTCGGTGAGAACGTCCTCCTGGGCTGTGAGCGCCGAGAGCAGTGCCGGCCTCTGCCTTGTGTCCACGGAGGGTCCTGTGTGGATCTGTGGACTCATTTCCGTTGCGACTGTGCCCGGCCCCATAGAGGTCCCACGTGCGCTGATGGTGAGGAATAAGCCAGGTGGGAAGGCAGCACCTGAGATCTGCCTCCCTCAGCCTGCAGGCCTCACACCTGGCACCTTCTCTCCCTGCAGAGATTCCTGCTGCCACCTTTGGCTTGGGAGGCGCCCCAAGCTCTGCCTCCTTTCTGCTCCAAGAGCTGCCAGGTCCCAACCTCACAGTGTCTTTCCTTCTCCGCACTCGGGAGTCCGCTGGCCTGTTGCTCCAGTTTGCCAATGACTCCGCAGCTGGCCTAACAGTATTCCTGAGTGAGGGTCGGATCCGGGCTGAGGTGCCGGGCAGTCCTGCTGTAGTGCTCCCTGGGCGCTGGGATGATGGGCTCCGTCACCTGGTGATGCTCAGCTTCGGGCCTGACCAGCTGCAGGACCTGGGGCAGCACGTGCACGTGGGTGGGAGGCTCCTTGCTGCCGACAGCCAGCCCTGGGGTGGGCCCTTCCGAGGCTGCCTCCAGGACCTGCGACTCGATGGCTGCCACCTCCCCTTCTTTCCTCTGCCACTGGATAACTCAAGCCAGCCCAGCGAGCTCGGCGGCAGGCAGTCCTGGAACCTCACTGCGGGCTGCGTCTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCCTGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCGGCTGCAGTTTC
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CGGGGGCTCTGTGGACCTTCCTGGGCCACCTGTGGCTCCTGGCAGGTATGGAGGAATGTGGGCCCTGGGCAGGGGGAGGTTGGTGGGTGGTGGTTCCTAGGAAGAGGCTGTGGTGTTTGTGAGCTGATCGAGGCTGGGCTTCAAACCCTGGTGACTTCTCTGGGCCTGGGTTCCTCCAGCTGGGATGTGGCTCTGGCTGAGCTACAGTGGGCTATGGCTTCTGGACCCAAGCTGGGGCCTGAGCACCTGAAGGGATCCCTAGAGGGAGGATGAGGCAGCCCCTTCACAGCCAGTGTGGGGGCCCTGGGGCAGAGGGACTGAGGGGTTAGAGCCTGGGAGGCCACTCAGAGTGCCTTGGGTACTTGCACTACCCCACTAGCTCCTCCATGCCATCACTCTGTCCATAAAAGCCATGTCAGGCCCTTTGCTGGGCACCAAGGACATATTCAGGTCCCTGAAGATCTCAGCTGAGTAAACAAATACTTTTAATACAGGGTTCTGGGGAGCTGTGCCTGGGACTGCAGAGTGACACAGTAGTTTGAGGTTGGGAGTTAGGGAAAGCCTCTGGGCCCTTTGAGTTTGGGCTTTGCAGGATGAGTAGGAGTTTGAAAGGAAGGGTAAGGGTGAATGAGGCATTCCAAGCAGACAGAACAGTATGAGCAAAGCCCCAGAGTCACGACTTTCCAGGAAATGCTCGGAGGAATGGGACGTTCAAGATTTGTGGGAAGCAGGATTGAGGCTTGAGAGCCTGGTAGGACCCAGCCCATGAGGGTGTCTTAAATGTCAGGGTGAGTGATTGGACTTCAGGCGGCAGAGGAACCCAGCCTGGCGATGCTTTAGAAATGGACCTCTGGCTACTGGTGGAGATGGATGGGAAAGGGCTTCTGAAGGCTGGCGAACTGGGGGATGCGGGATGGTAGCCCAGACAGCTGGTAAGGCAGGAGATGGGGGGTAGGAGAAAGGGGCATTGGAGAATGTTTAGGAGATTAAATCTACAGGGCCTGGACACTCACCAGACATGAGAAGGGAAGGGGCATCTTGGCTTCTGGCCTACGGGGGGACTTGAGGGGACCATGAGAAATCCTCTGGGAATTGGTTTGGCTGATAGGTACTGAGGTCCCCATCATAAGAGGCATGTAAGTTCTGGGTCAGTACTGTGATTCTGGCCCCAGACATTACTGAACCTTGGCTTTGTCTCTCCCAAAGGGCCGACATGTGAGGAAGATGTGGATGAATGCCTGTCGGATCCCTGCCTGCACGGCGGAACCTGCAGTGACACTGTGGCAGGCTATATCTGCAGGTGCCCAGAGACCTGGGGTGGGCGCGACTGTTCTGTGCAGCTCACTGGCTGCCAGGGCCACACCTGCCCGCTGGCTGCCACCTGCATCCCTATCTTCGAGTCTGGGGTCCACAGTTACGTCTGCCACTGCCCACCTGGTACCCATGGACCGTTCTGTGGCCAGAATACCACCTTCTCTGTGATGGCTGGGAGCCCCATTCAGGCATCAGTGCCAGCTGGTGGCCCCCTGGGTCTGGCACTGAGGTTTCGCACCACACTGCCCGCTGGGACCTTGGCCACTCGCAATGACACCAAGGAAAGCTTGGAGCTGGCATTGGTGGCAGCCACACTTCAGGCCACACTCTGGAGCTACAGCACCACTGTGCTTGTCCTGAGACTGCCGGACCTGGCCCTAAACGATGGCCATTGGCACCAGGTGGAGGTTGTGCTCCATCTAGCGACCCTGGAGCTACGGCTCTGGCATGAGGGCTGCCCTGCCCGGCTCTGTGTGGCCTCTGGTCCTGTGGCCCTGGCTTCCACGGCTTCGGCAACTCCGCTGCCTGCCGGGATCTCCTCTGCCCAGCTGGGGGACGCGACCTTTGCAGGCTGCCTCCAGGACGTGCGTGTGGATGGCCACCTCCTGCTGCCTGAGGATCTCGGTGAGAACGTCCTCCTGGGCTGTGAGCGCCGAGAGCAGTGCCGGCCTCTGCCTTGTGTCCACGGAGGGTCCTGTGTGGATCTGTGGACTCATTTCCGTTGCGACTGTGCCTGGCCCCATAGAGGTCCCACGTGCGCTGATGGTGAGGAATAAGCCAGGTGGGAAGGCAGCACCTGAGATCTGCCTCCCTCAGCCTGCAGGCCTCACACCTGGCACCTTCTCTCCCTGCAGAGATTCCTGCTGCCACCTTTGGCTTGGGAGGCGCCCCAAGCTCTGCCTCCTTTCTGCTCCAAGAGCTGCCAGGTCCCAACCTCACAGTGTCTTTCCTTCTCCGCACTCGGGAGTCCGCTGGCCTGTTGCTCCAGTTTGCCAATGACTCCGCAGCTGGCCTAACAGTATTCCTGAGTGAGGGTCGGATCCGGGCTGAGGTGCCGGGCAGTCCTGCTGTAGTGCTCCCTGGGCGCTGGGATGATGGGCTCCGTCACCTGGTGATGCTCAGCTTCGGGCCTGACCAGCTGCAGGACCTGGGGCAGCACGTGCACGTGGGTGGGAGGCTCCTTGCTGCCGACAGCCAGCCCTGGGGTGGGCCCTTCCGAGGCTGCCTCCAGGACCTGCGACTCGATGGCTGCCACCTCCCCTTCTTTCCTCTGCCACTGGATAACTCAAGCCAGCCCAGCGAGCTCGGCGGCAGGCAGTCCTGGAACCTCACTGCGGGCTGCGTCTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGGAGCGGGACACGCTTTTGATCATGAACAGAATTCCACCAACCCTGGAGTTAGAACAGCTTGGGCATGAATTCTGGTTCCTCTCTTTACTGGCTGGGTGACTCAGGCAAGTGGCTTTGCATCACTGAGCCTCAGTTTTCTCATCTGTAAAATGGGGATCTTAGCGACTTCCTCTCCCCTCGTTTGTGAGGAGATACTGTGTCTGTAGTAGGTGCTCAGCGAAGAAGCACTGCAATGCCAGTTATGGTGGGTGATGCTCACTGCAGTCCTGAGCCAACCCCTGCCCTGCCTCTCCCACAGCCTGACCCCTGTTTCAATGGTGGGACTTGCCTCGTCACCTGGAATGACTTCCACTGTACCTGCCCTGCCAATTTCACGGGGCCTACGTGTGCCCAGCAGCTGTGGTGTCCCGGCCAGCCCTGTCTCCCACCTGCCACGTGTGAGGAGGTCCCTGATGGCTTTGTGTGTGAGTGTGTGTCCTGGGCAGCTCCCGTGCTGGGTGCTGGACACCTAAGCTGGTTAGATCCCATCTGCACTCTCAGGGCTTGTAGGATACTGGTGGACCAGGCATGCCAAGCCCTAGGGCAGTGTGGCGGGGCCACCGCATGTAGAGGGACAGAGTTTCTGGAGAAGGTGAGCCTGTACTGGGCTTCAGGGCCAGACTCTGAGAGCCACAGGGGGAAGGATATTTTATGGAGTGGCATAGCATGTGCCAAGTCCCTGAGGTCTGCAAGGACAGTGGAAGTGCAAGGGGGTGAGCAGGAATGGGGTGGGAAAGTTGGTAGGGGCTTTGAGGACACCCAGCTAGGCGGCTCTGACTTTATCCCAAGGACAGTGGGGAGCCTCTGGAGGGTTTTAAACAGGAGAGGGGCATGACCAGATCTGCATTTTACAAAGATGACTGGCTGCAGTGAAGGGCAAGCCTCGGCCATGAGGTGGGGCAGCTTCACGGAGAAGGGAAGGGGCCAGATTCTGCCAGGAGTTGCTGTTGCCTGGCTTGTGACCTGGAGGGTCGCCTAGGCATCACGCCCCACCCCCCAGCACTGGCCGGGAACTGCTCCTCCATGGGTAGGAAATACATTGGGAGTAGAAGTGAGGGTGGTGGGGGCGGCTGCAGTTTC
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Task1_train_13125
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The gene NR5A1 (nuclear receptor subfamily 5 group A member 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; 46,XY sex reversal 3
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GCTCTGAGGGGTCTGGTCTCCCAGGTCTGTGGCTCATGGGCCCTTGGCAAGTGCCTTCCCCTCCTAGAGTATAACCCCTGCCTCACAGGGCTGCTGCGGGGACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGGGCCGTTCTGCTTTGGCCCCAGAACGTACACAGGCAAAGGTAGCTGGAAACTAATTGCGAAATTTATTCCAGGGCTGTGGGGGCTGGGGTGATCCTTAAGGGCACTTCTCGTTTCAGGGCTGTGGGTCTCCGGCCTTGGCAGGGGCACATGTTTCAGGGGGCGGGGAGGGGAGGTACTGAGACAGGGTGGCGGGAGGCGGGAGGCAGGAGGCAGGGGTGCCCAGTCTCCTCCAACTGGGCAGGCTCAGCACAAGCTGCAACAGTAACATGAAAGCGGGACGGACAGCAGGCACCCCGCCGGGGACAGGAGACAGCCGAGGCCTCTCCCTGGTGCTTCACCCTGCAGAGTGTCCTTCATGACCTAGGACAGGGGGTCAGGGAGCTGAGGGCCAGCTTCATGGGTTTGCAGCAAGGGACCCAACGGGTTGGAGCCACAGAGAGGGGATCAACAGCGCTATCCCTGATCTACAGGCCCGTGCCCCCTCCCAAGTTCACTTGCATTCCCACCCACAGAGACCTGAAGCCCCCAACAGGGCATCCTGCTGTTCACCTAGTGGGTGGAGGGCGGGCAACAGCGCTTCTCTGGATTGGGGCTGGGGCTCAGAAGTAATGACCCAGCACCACCCCAAGGGTACTTAGTAGGCGAGTGTCCGGGGAGAAACCGTCAGCTGTACTTAGTGGCAATCCCCAAGCCCCAGCTTCAGTCCTCAAATCTGTCCCCTTCCCTCCATCACACACACATTTCAAGGAGTGTCTAGAAGCTTAAAAACAAAAAGCGGGGAGAAAAACCTCTTGACTACAACCTTGCAGATAAATACCAGCCTGGGAGGGCCACCTCTGGGTGGGGCTAGGATGTCGATTGTACCAAACGTTCTCCTTGGGTGGGAGAGGGAATCAGTGATGCCTGGAGCAAAGTTTTTTCCCGATGATGTATCAATGCCCCCTCTTGCAGAGGTCAGGTGGGGTAGAAGGGCTAGGGAGAAGGTCTTTTTGTCCTAACCAGTCTCCTAGTGTCCTCTAGGGCCCAATAGCCCCTCTCAATTTAGCAAACTCGGTTATCCTTAGTTTACAAAACAGAGGCTCTCCCTCCTGGTCTCTATGGGGGGAACACTGGAGACCCTCTCTCCTCCCCTAGTTGATACCTGCTCAACTTCTCCCTGTCTGTTTCCAGGAGAGGAGGAAGGGATGACCTCTGATCCAAGGGACGTCGAGGCCCACCAGGGAATCCCGAACCTCCTCCCCGGACCTGCAGGCTTCAGACTCCAGGAGAGAGAGCTGGGAGCAGGGAGGGGGCGGGGCGGGTGGTTAACAGCCACCTCCTTGGGGCACTCCAAGCAGCAGGCAAGTGCCAGTGGCCACTCCACCTCCGCCAGGCCCTGCCCAGCCTCACCCACCTTCCCAAACACACAGTGTCAGAACTCAGGGGCAGCGGCCTCTGGGACGGGGCTGGGGCTCCTCGGTGGGCATCAGAAAATGAACCATGCGGAGCCAGCGGTGTGGCTGCGGCCCCGCCCAGGCCCCGCCCCCAGTCCCGCCCCCAGTCCCGGCCCCGCCCCCGGCCCAGGCTCAAGTCTGCTTGGCTTGCAGCATTTCGATGAGCAGGTTGTTGCGGGGCATCTCGTTGCCCAGGTGCTTGTGGTACAGGTACTCCTTGGCCTGCATGCTCAGGGCCCGCACCTCCACCAGGCACAGCAGCAGCTGCTGGAATTTGTCCCCGCAGTGCGGGTAGTGGCACAGGGTGTAGTCAAGCAGGGCGGCGTTGGCCTTCTCCTGAGCGTCTTTCACCAGGATGTGGTTATTCAGGAACTTCAAATCTGCAAAGGGAGGTTCTCGGTCACCATCGCGTCACCATCCATGCCCATCAGGGCTGGGCCAACACCGTCACCAGCATCACCAATACCACCTTCCCTATGACCATCAAAGACATGGGCATTGCTGCCACCAACCATGCAACATGGTCTCCCCGTTGGCACCGTGTCGCCATCACCATTGCTGTCACCCTGGTTGACAAACACCACCATCGTCACCAATACCCACATGCCTGTGTTTTTCATGAACATGGCCACCGCCACCATCAACCACCCAACCACAGTCACCTGTCACCATCATCACTGCCATCATCATCACCACAGTGGTCACAATGAACAAGAATTATGAAGCCCATCACCAGCCTCCCTCGGGGAGGATCCCTGGGCAGTTATTGAACCTCTCGGTCCCCCATCTGTAAAATGGGCGTGACGACAGTACCAACTTCACAACCTTGTCCTGAGAATTTAGGGAGCCGCTGTGTGGAAAGTGCTCTGAAGAACAGTGTCTGGCACGTGAGAAGCTCGGTGGGTTGGGTTAGCTGGCACCACAATAATGCCATCACAATGGGAGCTGCTCTCACCGCCGTCATGGCCAACCATTGCTGCCATAACCAACACCATCCCCCTGGCACGATCAAAGCCATCTTGTCTCCATCATCACTGATGCCTCATCTCCATGACCGTTGCCATCCGCATCCCCACTCTGCCACCATCACCACTGTCACCCCATCAGCACCACGCCCACAGAGGCGCACTGTGGGTGGGAGTATCCCATCTCATGCTGCAATGCAGGAGGACTGGTGGCCCCATTCTAGAGGACAGCTGGCATGTGCTTTTAGTCTCCCCTATGACCAACAGACAGGCTCCAGTACCCCCAGGAAGGACTCTCATGGGGCCATGGGGGAGCATGCACATTCACTGCAGGAGTGCAGATGCGCTGACATCCTGGCTAACCTATCGCAAGCTGAAAATATCGTAAGTCAGAAGGCATTTACTATGCCTGACCTGCTGCACATCACAGCCTGGCCTACCTTAAATGTGCTCAGACCACATTACCCTACAGTTGGCAAAATCACCTGACGCAAGCCTATTTTACAATAAAGCGTTGAACATCTCATGGGGTTTACTGAACACCATGCTGAAAACGCAAAACAGAAGGGTTACATGGGTACTCCAGGCATGCTTTCTGCGGAATGCATGTTTTTCAACTTCTACACCACCGTAAAGTCAAAAAATCCTAAGCCAAAGCTCATGAGTCAGGGGCCATCTCTGCTCATGGTGGCAAGGAGGGGGCCTGGATGGCCACGTGGTGACCGCACCCCAAGGAGTCGTGTGCAATAGGCAGAAGTCAGGGAGCCCACACAATGCAGGGCAAAGCCTGGGACTGAGCGGAAAACAAAAATCACAGAAGGGAGGTCAGGATGAGATCGATAAGGCTCAGCCATGTACATAAACTAGAAATGCTTGTTGGCCGGGCGTAGTGGTTCACACCTGTCATCCTAGTAGTTTGGGAGGCCAAGGTAGGTGGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTACCGAGGCATGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGTTGAGGCTGGTGAATCAGGTGAACCCGGGAGGTGGTGGTTGCTGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATAAATAAAGCTTGTACACAAAGCAGACGTGCCATGGGAAGACAGGGGCAAACAGGACGACCCGCATTAAACATCAAGGAAGGGCTCCCTTTGGGGAGGGGTGGA
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GCTCTGAGGGGTCTGGTCTCCCAGGTCTGTGGCTCATGGGCCCTTGGCAAGTGCCTTCCCCTCCTAGAGTATAACCCCTGCCTCACAGGGCTGCTGCGGGGACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGGGCCGTTCTGCTTTGGCCCCAGAACGTACACAGGCAAAGGTAGCTGGAAACTAATTGCGAAATTTATTCCAGGGCTGTGGGGGCTGGGGTGATCCTTAAGGGCACTTCTCGTTTCAGGGCTGTGGGTCTCCGGCCTTGGCAGGGGCACATGTTTCAGGGGGCGGGGAGGGGAGGTACTGAGACAGGGTGGCGGGAGGCGGGAGGCAGGAGGCAGGGGTGCCCAGTCTCCTCCAACTGGGCAGGCTCAGCACAAGCTGCAACAGTAACATGAAAGCGGGACGGACAGCAGGCACCCCGCCGGGGACAGGAGACAGCCGAGGCCTCTCCCTGGTGCTTCACCCTGCAGAGTGTCCTTCATGACCTAGGACAGGGGGTCAGGGAGCTGAGGGCCAGCTTCATGGGTTTGCAGCAAGGGACCCAACGGGTTGGAGCCACAGAGAGGGGATCAACAGCGCTATCCCTGATCTACAGGCCCGTGCCCCCTCCCAAGTTCACTTGCATTCCCACCCACAGAGACCTGAAGCCCCCAACAGGGCATCCTGCTGTTCACCTAGTGGGTGGAGGGCGGGCAACAGCGCTTCTCTGGATTGGGGCTGGGGCTCAGAAGTAATGACCCAGCACCACCCCAAGGGTACTTAGTAGGCGAGTGTCCGGGGAGAAACCGTCAGCTGTACTTAGTGGCAATCCCCAAGCCCCAGCTTCAGTCCTCAAATCTGTCCCCTTCCCTCCATCACACACACATTTCAAGGAGTGTCTAGAAGCTTAAAAACAAAAAGCGGGGAGAAAAACCTCTTGACTACAACCTTGCAGATAAATACCAGCCTGGGAGGGCCACCTCTGGGTGGGGCTAGGATGTCGATTGTACCAAACGTTCTCCTTGGGTGGGAGAGGGAATCAGTGATGCCTGGAGCAAAGTTTTTTCCCGATGATGTATCAATGCCCCCTCTTGCAGAGGTCAGGTGGGGTAGAAGGGCTAGGGAGAAGGTCTTTTTGTCCTAACCAGTCTCCTAGTGTCCTCTAGGGCCCAATAGCCCCTCTCAATTTAGCAAACTCGGTTATCCTTAGTTTACAAAACAGAGGCTCTCCCTCCTGGTCTCTATGGGGGGAACACTGGAGACCCTCTCTCCTCCCCTAGTTGATACCTGCTCAACTTCTCCCTGTCTGTTTCCAGGAGAGGAGGAAGGGATGACCTCTGATCCAAGGGACGTCGAGGCCCACCAGGGAATCCCGAACCTCCTCCCCGGACCTGCAGGCTTCAGACTCCAGGAGAGAGAGCTGGGAGCAGGGAGGGGGCGGGGCGGGTGGTTAACAGCCACCTCCTTGGGGCACTCCAAGCAGCAGGCAAGTGCCAGTGGCCACTCCACCTCCGCCAGGCCCTGCCCAGCCTCACCCACCTTCCCAAACACACAGTGTCAGAACTCAGGGGCAGCGGCCTCTGGGACGGGGCTGGGGCTCCTCGGTGGGCATCAGAAAATGAACCATGCGGAGCCAGCGGTGTGGCTGCGGCCCCGCCCAGGCCCCGCCCCCAGTCCCGCCCCCAGTCCCGGCCCCGCCCCCGGCCCAGGCTCAAGTCTGCTTGGCTTGCAGCATTTCGATGAGCAGGTTGTTGCGGGGCATCTCGTTGCCCAGGTGCTTGTGGTACTGGTACTCCTTGGCCTGCATGCTCAGGGCCCGCACCTCCACCAGGCACAGCAGCAGCTGCTGGAATTTGTCCCCGCAGTGCGGGTAGTGGCACAGGGTGTAGTCAAGCAGGGCGGCGTTGGCCTTCTCCTGAGCGTCTTTCACCAGGATGTGGTTATTCAGGAACTTCAAATCTGCAAAGGGAGGTTCTCGGTCACCATCGCGTCACCATCCATGCCCATCAGGGCTGGGCCAACACCGTCACCAGCATCACCAATACCACCTTCCCTATGACCATCAAAGACATGGGCATTGCTGCCACCAACCATGCAACATGGTCTCCCCGTTGGCACCGTGTCGCCATCACCATTGCTGTCACCCTGGTTGACAAACACCACCATCGTCACCAATACCCACATGCCTGTGTTTTTCATGAACATGGCCACCGCCACCATCAACCACCCAACCACAGTCACCTGTCACCATCATCACTGCCATCATCATCACCACAGTGGTCACAATGAACAAGAATTATGAAGCCCATCACCAGCCTCCCTCGGGGAGGATCCCTGGGCAGTTATTGAACCTCTCGGTCCCCCATCTGTAAAATGGGCGTGACGACAGTACCAACTTCACAACCTTGTCCTGAGAATTTAGGGAGCCGCTGTGTGGAAAGTGCTCTGAAGAACAGTGTCTGGCACGTGAGAAGCTCGGTGGGTTGGGTTAGCTGGCACCACAATAATGCCATCACAATGGGAGCTGCTCTCACCGCCGTCATGGCCAACCATTGCTGCCATAACCAACACCATCCCCCTGGCACGATCAAAGCCATCTTGTCTCCATCATCACTGATGCCTCATCTCCATGACCGTTGCCATCCGCATCCCCACTCTGCCACCATCACCACTGTCACCCCATCAGCACCACGCCCACAGAGGCGCACTGTGGGTGGGAGTATCCCATCTCATGCTGCAATGCAGGAGGACTGGTGGCCCCATTCTAGAGGACAGCTGGCATGTGCTTTTAGTCTCCCCTATGACCAACAGACAGGCTCCAGTACCCCCAGGAAGGACTCTCATGGGGCCATGGGGGAGCATGCACATTCACTGCAGGAGTGCAGATGCGCTGACATCCTGGCTAACCTATCGCAAGCTGAAAATATCGTAAGTCAGAAGGCATTTACTATGCCTGACCTGCTGCACATCACAGCCTGGCCTACCTTAAATGTGCTCAGACCACATTACCCTACAGTTGGCAAAATCACCTGACGCAAGCCTATTTTACAATAAAGCGTTGAACATCTCATGGGGTTTACTGAACACCATGCTGAAAACGCAAAACAGAAGGGTTACATGGGTACTCCAGGCATGCTTTCTGCGGAATGCATGTTTTTCAACTTCTACACCACCGTAAAGTCAAAAAATCCTAAGCCAAAGCTCATGAGTCAGGGGCCATCTCTGCTCATGGTGGCAAGGAGGGGGCCTGGATGGCCACGTGGTGACCGCACCCCAAGGAGTCGTGTGCAATAGGCAGAAGTCAGGGAGCCCACACAATGCAGGGCAAAGCCTGGGACTGAGCGGAAAACAAAAATCACAGAAGGGAGGTCAGGATGAGATCGATAAGGCTCAGCCATGTACATAAACTAGAAATGCTTGTTGGCCGGGCGTAGTGGTTCACACCTGTCATCCTAGTAGTTTGGGAGGCCAAGGTAGGTGGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTACCGAGGCATGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGTTGAGGCTGGTGAATCAGGTGAACCCGGGAGGTGGTGGTTGCTGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATAAATAAAGCTTGTACACAAAGCAGACGTGCCATGGGAAGACAGGGGCAAACAGGACGACCCGCATTAAACATCAAGGAAGGGCTCCCTTTGGGGAGGGGTGGA
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Task1_train_13126
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Mutation context: Chromosome 9, Gene NR5A1 (nuclear receptor subfamily 5 group A member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Disorder of sexual differentiation
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GGGCTGCTGCGGGGACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGGGCCGTTCTGCTTTGGCCCCAGAACGTACACAGGCAAAGGTAGCTGGAAACTAATTGCGAAATTTATTCCAGGGCTGTGGGGGCTGGGGTGATCCTTAAGGGCACTTCTCGTTTCAGGGCTGTGGGTCTCCGGCCTTGGCAGGGGCACATGTTTCAGGGGGCGGGGAGGGGAGGTACTGAGACAGGGTGGCGGGAGGCGGGAGGCAGGAGGCAGGGGTGCCCAGTCTCCTCCAACTGGGCAGGCTCAGCACAAGCTGCAACAGTAACATGAAAGCGGGACGGACAGCAGGCACCCCGCCGGGGACAGGAGACAGCCGAGGCCTCTCCCTGGTGCTTCACCCTGCAGAGTGTCCTTCATGACCTAGGACAGGGGGTCAGGGAGCTGAGGGCCAGCTTCATGGGTTTGCAGCAAGGGACCCAACGGGTTGGAGCCACAGAGAGGGGATCAACAGCGCTATCCCTGATCTACAGGCCCGTGCCCCCTCCCAAGTTCACTTGCATTCCCACCCACAGAGACCTGAAGCCCCCAACAGGGCATCCTGCTGTTCACCTAGTGGGTGGAGGGCGGGCAACAGCGCTTCTCTGGATTGGGGCTGGGGCTCAGAAGTAATGACCCAGCACCACCCCAAGGGTACTTAGTAGGCGAGTGTCCGGGGAGAAACCGTCAGCTGTACTTAGTGGCAATCCCCAAGCCCCAGCTTCAGTCCTCAAATCTGTCCCCTTCCCTCCATCACACACACATTTCAAGGAGTGTCTAGAAGCTTAAAAACAAAAAGCGGGGAGAAAAACCTCTTGACTACAACCTTGCAGATAAATACCAGCCTGGGAGGGCCACCTCTGGGTGGGGCTAGGATGTCGATTGTACCAAACGTTCTCCTTGGGTGGGAGAGGGAATCAGTGATGCCTGGAGCAAAGTTTTTTCCCGATGATGTATCAATGCCCCCTCTTGCAGAGGTCAGGTGGGGTAGAAGGGCTAGGGAGAAGGTCTTTTTGTCCTAACCAGTCTCCTAGTGTCCTCTAGGGCCCAATAGCCCCTCTCAATTTAGCAAACTCGGTTATCCTTAGTTTACAAAACAGAGGCTCTCCCTCCTGGTCTCTATGGGGGGAACACTGGAGACCCTCTCTCCTCCCCTAGTTGATACCTGCTCAACTTCTCCCTGTCTGTTTCCAGGAGAGGAGGAAGGGATGACCTCTGATCCAAGGGACGTCGAGGCCCACCAGGGAATCCCGAACCTCCTCCCCGGACCTGCAGGCTTCAGACTCCAGGAGAGAGAGCTGGGAGCAGGGAGGGGGCGGGGCGGGTGGTTAACAGCCACCTCCTTGGGGCACTCCAAGCAGCAGGCAAGTGCCAGTGGCCACTCCACCTCCGCCAGGCCCTGCCCAGCCTCACCCACCTTCCCAAACACACAGTGTCAGAACTCAGGGGCAGCGGCCTCTGGGACGGGGCTGGGGCTCCTCGGTGGGCATCAGAAAATGAACCATGCGGAGCCAGCGGTGTGGCTGCGGCCCCGCCCAGGCCCCGCCCCCAGTCCCGCCCCCAGTCCCGGCCCCGCCCCCGGCCCAGGCTCAAGTCTGCTTGGCTTGCAGCATTTCGATGAGCAGGTTGTTGCGGGGCATCTCGTTGCCCAGGTGCTTGTGGTACAGGTACTCCTTGGCCTGCATGCTCAGGGCCCGCACCTCCACCAGGCACAGCAGCAGCTGCTGGAATTTGTCCCCGCAGTGCGGGTAGTGGCACAGGGTGTAGTCAAGCAGGGCGGCGTTGGCCTTCTCCTGAGCGTCTTTCACCAGGATGTGGTTATTCAGGAACTTCAAATCTGCAAAGGGAGGTTCTCGGTCACCATCGCGTCACCATCCATGCCCATCAGGGCTGGGCCAACACCGTCACCAGCATCACCAATACCACCTTCCCTATGACCATCAAAGACATGGGCATTGCTGCCACCAACCATGCAACATGGTCTCCCCGTTGGCACCGTGTCGCCATCACCATTGCTGTCACCCTGGTTGACAAACACCACCATCGTCACCAATACCCACATGCCTGTGTTTTTCATGAACATGGCCACCGCCACCATCAACCACCCAACCACAGTCACCTGTCACCATCATCACTGCCATCATCATCACCACAGTGGTCACAATGAACAAGAATTATGAAGCCCATCACCAGCCTCCCTCGGGGAGGATCCCTGGGCAGTTATTGAACCTCTCGGTCCCCCATCTGTAAAATGGGCGTGACGACAGTACCAACTTCACAACCTTGTCCTGAGAATTTAGGGAGCCGCTGTGTGGAAAGTGCTCTGAAGAACAGTGTCTGGCACGTGAGAAGCTCGGTGGGTTGGGTTAGCTGGCACCACAATAATGCCATCACAATGGGAGCTGCTCTCACCGCCGTCATGGCCAACCATTGCTGCCATAACCAACACCATCCCCCTGGCACGATCAAAGCCATCTTGTCTCCATCATCACTGATGCCTCATCTCCATGACCGTTGCCATCCGCATCCCCACTCTGCCACCATCACCACTGTCACCCCATCAGCACCACGCCCACAGAGGCGCACTGTGGGTGGGAGTATCCCATCTCATGCTGCAATGCAGGAGGACTGGTGGCCCCATTCTAGAGGACAGCTGGCATGTGCTTTTAGTCTCCCCTATGACCAACAGACAGGCTCCAGTACCCCCAGGAAGGACTCTCATGGGGCCATGGGGGAGCATGCACATTCACTGCAGGAGTGCAGATGCGCTGACATCCTGGCTAACCTATCGCAAGCTGAAAATATCGTAAGTCAGAAGGCATTTACTATGCCTGACCTGCTGCACATCACAGCCTGGCCTACCTTAAATGTGCTCAGACCACATTACCCTACAGTTGGCAAAATCACCTGACGCAAGCCTATTTTACAATAAAGCGTTGAACATCTCATGGGGTTTACTGAACACCATGCTGAAAACGCAAAACAGAAGGGTTACATGGGTACTCCAGGCATGCTTTCTGCGGAATGCATGTTTTTCAACTTCTACACCACCGTAAAGTCAAAAAATCCTAAGCCAAAGCTCATGAGTCAGGGGCCATCTCTGCTCATGGTGGCAAGGAGGGGGCCTGGATGGCCACGTGGTGACCGCACCCCAAGGAGTCGTGTGCAATAGGCAGAAGTCAGGGAGCCCACACAATGCAGGGCAAAGCCTGGGACTGAGCGGAAAACAAAAATCACAGAAGGGAGGTCAGGATGAGATCGATAAGGCTCAGCCATGTACATAAACTAGAAATGCTTGTTGGCCGGGCGTAGTGGTTCACACCTGTCATCCTAGTAGTTTGGGAGGCCAAGGTAGGTGGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTACCGAGGCATGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGTTGAGGCTGGTGAATCAGGTGAACCCGGGAGGTGGTGGTTGCTGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATAAATAAAGCTTGTACACAAAGCAGACGTGCCATGGGAAGACAGGGGCAAACAGGACGACCCGCATTAAACATCAAGGAAGGGCTCCCTTTGGGGAGGGGTGGAGGGGGTTTGGCTCTGCGTGCACCAATGATTGAACAGAGGAGTGCAACTGATGTGTCCGCCACACCCGAGGTGCAGTGAAGAGACAGA
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GGGCTGCTGCGGGGACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGGGCCGTTCTGCTTTGGCCCCAGAACGTACACAGGCAAAGGTAGCTGGAAACTAATTGCGAAATTTATTCCAGGGCTGTGGGGGCTGGGGTGATCCTTAAGGGCACTTCTCGTTTCAGGGCTGTGGGTCTCCGGCCTTGGCAGGGGCACATGTTTCAGGGGGCGGGGAGGGGAGGTACTGAGACAGGGTGGCGGGAGGCGGGAGGCAGGAGGCAGGGGTGCCCAGTCTCCTCCAACTGGGCAGGCTCAGCACAAGCTGCAACAGTAACATGAAAGCGGGACGGACAGCAGGCACCCCGCCGGGGACAGGAGACAGCCGAGGCCTCTCCCTGGTGCTTCACCCTGCAGAGTGTCCTTCATGACCTAGGACAGGGGGTCAGGGAGCTGAGGGCCAGCTTCATGGGTTTGCAGCAAGGGACCCAACGGGTTGGAGCCACAGAGAGGGGATCAACAGCGCTATCCCTGATCTACAGGCCCGTGCCCCCTCCCAAGTTCACTTGCATTCCCACCCACAGAGACCTGAAGCCCCCAACAGGGCATCCTGCTGTTCACCTAGTGGGTGGAGGGCGGGCAACAGCGCTTCTCTGGATTGGGGCTGGGGCTCAGAAGTAATGACCCAGCACCACCCCAAGGGTACTTAGTAGGCGAGTGTCCGGGGAGAAACCGTCAGCTGTACTTAGTGGCAATCCCCAAGCCCCAGCTTCAGTCCTCAAATCTGTCCCCTTCCCTCCATCACACACACATTTCAAGGAGTGTCTAGAAGCTTAAAAACAAAAAGCGGGGAGAAAAACCTCTTGACTACAACCTTGCAGATAAATACCAGCCTGGGAGGGCCACCTCTGGGTGGGGCTAGGATGTCGATTGTACCAAACGTTCTCCTTGGGTGGGAGAGGGAATCAGTGATGCCTGGAGCAAAGTTTTTTCCCGATGATGTATCAATGCCCCCTCTTGCAGAGGTCAGGTGGGGTAGAAGGGCTAGGGAGAAGGTCTTTTTGTCCTAACCAGTCTCCTAGTGTCCTCTAGGGCCCAATAGCCCCTCTCAATTTAGCAAACTCGGTTATCCTTAGTTTACAAAACAGAGGCTCTCCCTCCTGGTCTCTATGGGGGGAACACTGGAGACCCTCTCTCCTCCCCTAGTTGATACCTGCTCAACTTCTCCCTGTCTGTTTCCAGGAGAGGAGGAAGGGATGACCTCTGATCCAAGGGACGTCGAGGCCCACCAGGGAATCCCGAACCTCCTCCCCGGACCTGCAGGCTTCAGACTCCAGGAGAGAGAGCTGGGAGCAGGGAGGGGGCGGGGCGGGTGGTTAACAGCCACCTCCTTGGGGCACTCCAAGCAGCAGGCAAGTGCCAGTGGCCACTCCACCTCCGCCAGGCCCTGCCCAGCCTCACCCACCTTCCCAAACACACAGTGTCAGAACTCAGGGGCAGCGGCCTCTGGGACGGGGCTGGGGCTCCTCGGTGGGCATCAGAAAATGAACCATGCGGAGCCAGCGGTGTGGCTGCGGCCCCGCCCAGGCCCCGCCCCCAGTCCCGCCCCCAGTCCCGGCCCCGCCCCCGGCCCAGGCTCAAGTCTGCTTGGCTTGCAGCATTTCGATGAGCAGGTTGTTGCGGGGCATCTCGTTGCCCAGGTGCTTGTGGTACAGGTACTCCTTGGCCTGCATGCTCAGGGCCCGCACCTCCACCAGGCACAGCAGCAGCTGCTGGAATTTGTCCCCGCAGTGCGGGTAGGGGCACAGGGTGTAGTCAAGCAGGGCGGCGTTGGCCTTCTCCTGAGCGTCTTTCACCAGGATGTGGTTATTCAGGAACTTCAAATCTGCAAAGGGAGGTTCTCGGTCACCATCGCGTCACCATCCATGCCCATCAGGGCTGGGCCAACACCGTCACCAGCATCACCAATACCACCTTCCCTATGACCATCAAAGACATGGGCATTGCTGCCACCAACCATGCAACATGGTCTCCCCGTTGGCACCGTGTCGCCATCACCATTGCTGTCACCCTGGTTGACAAACACCACCATCGTCACCAATACCCACATGCCTGTGTTTTTCATGAACATGGCCACCGCCACCATCAACCACCCAACCACAGTCACCTGTCACCATCATCACTGCCATCATCATCACCACAGTGGTCACAATGAACAAGAATTATGAAGCCCATCACCAGCCTCCCTCGGGGAGGATCCCTGGGCAGTTATTGAACCTCTCGGTCCCCCATCTGTAAAATGGGCGTGACGACAGTACCAACTTCACAACCTTGTCCTGAGAATTTAGGGAGCCGCTGTGTGGAAAGTGCTCTGAAGAACAGTGTCTGGCACGTGAGAAGCTCGGTGGGTTGGGTTAGCTGGCACCACAATAATGCCATCACAATGGGAGCTGCTCTCACCGCCGTCATGGCCAACCATTGCTGCCATAACCAACACCATCCCCCTGGCACGATCAAAGCCATCTTGTCTCCATCATCACTGATGCCTCATCTCCATGACCGTTGCCATCCGCATCCCCACTCTGCCACCATCACCACTGTCACCCCATCAGCACCACGCCCACAGAGGCGCACTGTGGGTGGGAGTATCCCATCTCATGCTGCAATGCAGGAGGACTGGTGGCCCCATTCTAGAGGACAGCTGGCATGTGCTTTTAGTCTCCCCTATGACCAACAGACAGGCTCCAGTACCCCCAGGAAGGACTCTCATGGGGCCATGGGGGAGCATGCACATTCACTGCAGGAGTGCAGATGCGCTGACATCCTGGCTAACCTATCGCAAGCTGAAAATATCGTAAGTCAGAAGGCATTTACTATGCCTGACCTGCTGCACATCACAGCCTGGCCTACCTTAAATGTGCTCAGACCACATTACCCTACAGTTGGCAAAATCACCTGACGCAAGCCTATTTTACAATAAAGCGTTGAACATCTCATGGGGTTTACTGAACACCATGCTGAAAACGCAAAACAGAAGGGTTACATGGGTACTCCAGGCATGCTTTCTGCGGAATGCATGTTTTTCAACTTCTACACCACCGTAAAGTCAAAAAATCCTAAGCCAAAGCTCATGAGTCAGGGGCCATCTCTGCTCATGGTGGCAAGGAGGGGGCCTGGATGGCCACGTGGTGACCGCACCCCAAGGAGTCGTGTGCAATAGGCAGAAGTCAGGGAGCCCACACAATGCAGGGCAAAGCCTGGGACTGAGCGGAAAACAAAAATCACAGAAGGGAGGTCAGGATGAGATCGATAAGGCTCAGCCATGTACATAAACTAGAAATGCTTGTTGGCCGGGCGTAGTGGTTCACACCTGTCATCCTAGTAGTTTGGGAGGCCAAGGTAGGTGGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTACCGAGGCATGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGTTGAGGCTGGTGAATCAGGTGAACCCGGGAGGTGGTGGTTGCTGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATAAATAAAGCTTGTACACAAAGCAGACGTGCCATGGGAAGACAGGGGCAAACAGGACGACCCGCATTAAACATCAAGGAAGGGCTCCCTTTGGGGAGGGGTGGAGGGGGTTTGGCTCTGCGTGCACCAATGATTGAACAGAGGAGTGCAACTGATGTGTCCGCCACACCCGAGGTGCAGTGAAGAGACAGA
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Task1_train_13127
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The gene NR5A1 (nuclear receptor subfamily 5 group A member 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; 46,XY sex reversal 3
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GACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGGGCCGTTCTGCTTTGGCCCCAGAACGTACACAGGCAAAGGTAGCTGGAAACTAATTGCGAAATTTATTCCAGGGCTGTGGGGGCTGGGGTGATCCTTAAGGGCACTTCTCGTTTCAGGGCTGTGGGTCTCCGGCCTTGGCAGGGGCACATGTTTCAGGGGGCGGGGAGGGGAGGTACTGAGACAGGGTGGCGGGAGGCGGGAGGCAGGAGGCAGGGGTGCCCAGTCTCCTCCAACTGGGCAGGCTCAGCACAAGCTGCAACAGTAACATGAAAGCGGGACGGACAGCAGGCACCCCGCCGGGGACAGGAGACAGCCGAGGCCTCTCCCTGGTGCTTCACCCTGCAGAGTGTCCTTCATGACCTAGGACAGGGGGTCAGGGAGCTGAGGGCCAGCTTCATGGGTTTGCAGCAAGGGACCCAACGGGTTGGAGCCACAGAGAGGGGATCAACAGCGCTATCCCTGATCTACAGGCCCGTGCCCCCTCCCAAGTTCACTTGCATTCCCACCCACAGAGACCTGAAGCCCCCAACAGGGCATCCTGCTGTTCACCTAGTGGGTGGAGGGCGGGCAACAGCGCTTCTCTGGATTGGGGCTGGGGCTCAGAAGTAATGACCCAGCACCACCCCAAGGGTACTTAGTAGGCGAGTGTCCGGGGAGAAACCGTCAGCTGTACTTAGTGGCAATCCCCAAGCCCCAGCTTCAGTCCTCAAATCTGTCCCCTTCCCTCCATCACACACACATTTCAAGGAGTGTCTAGAAGCTTAAAAACAAAAAGCGGGGAGAAAAACCTCTTGACTACAACCTTGCAGATAAATACCAGCCTGGGAGGGCCACCTCTGGGTGGGGCTAGGATGTCGATTGTACCAAACGTTCTCCTTGGGTGGGAGAGGGAATCAGTGATGCCTGGAGCAAAGTTTTTTCCCGATGATGTATCAATGCCCCCTCTTGCAGAGGTCAGGTGGGGTAGAAGGGCTAGGGAGAAGGTCTTTTTGTCCTAACCAGTCTCCTAGTGTCCTCTAGGGCCCAATAGCCCCTCTCAATTTAGCAAACTCGGTTATCCTTAGTTTACAAAACAGAGGCTCTCCCTCCTGGTCTCTATGGGGGGAACACTGGAGACCCTCTCTCCTCCCCTAGTTGATACCTGCTCAACTTCTCCCTGTCTGTTTCCAGGAGAGGAGGAAGGGATGACCTCTGATCCAAGGGACGTCGAGGCCCACCAGGGAATCCCGAACCTCCTCCCCGGACCTGCAGGCTTCAGACTCCAGGAGAGAGAGCTGGGAGCAGGGAGGGGGCGGGGCGGGTGGTTAACAGCCACCTCCTTGGGGCACTCCAAGCAGCAGGCAAGTGCCAGTGGCCACTCCACCTCCGCCAGGCCCTGCCCAGCCTCACCCACCTTCCCAAACACACAGTGTCAGAACTCAGGGGCAGCGGCCTCTGGGACGGGGCTGGGGCTCCTCGGTGGGCATCAGAAAATGAACCATGCGGAGCCAGCGGTGTGGCTGCGGCCCCGCCCAGGCCCCGCCCCCAGTCCCGCCCCCAGTCCCGGCCCCGCCCCCGGCCCAGGCTCAAGTCTGCTTGGCTTGCAGCATTTCGATGAGCAGGTTGTTGCGGGGCATCTCGTTGCCCAGGTGCTTGTGGTACAGGTACTCCTTGGCCTGCATGCTCAGGGCCCGCACCTCCACCAGGCACAGCAGCAGCTGCTGGAATTTGTCCCCGCAGTGCGGGTAGTGGCACAGGGTGTAGTCAAGCAGGGCGGCGTTGGCCTTCTCCTGAGCGTCTTTCACCAGGATGTGGTTATTCAGGAACTTCAAATCTGCAAAGGGAGGTTCTCGGTCACCATCGCGTCACCATCCATGCCCATCAGGGCTGGGCCAACACCGTCACCAGCATCACCAATACCACCTTCCCTATGACCATCAAAGACATGGGCATTGCTGCCACCAACCATGCAACATGGTCTCCCCGTTGGCACCGTGTCGCCATCACCATTGCTGTCACCCTGGTTGACAAACACCACCATCGTCACCAATACCCACATGCCTGTGTTTTTCATGAACATGGCCACCGCCACCATCAACCACCCAACCACAGTCACCTGTCACCATCATCACTGCCATCATCATCACCACAGTGGTCACAATGAACAAGAATTATGAAGCCCATCACCAGCCTCCCTCGGGGAGGATCCCTGGGCAGTTATTGAACCTCTCGGTCCCCCATCTGTAAAATGGGCGTGACGACAGTACCAACTTCACAACCTTGTCCTGAGAATTTAGGGAGCCGCTGTGTGGAAAGTGCTCTGAAGAACAGTGTCTGGCACGTGAGAAGCTCGGTGGGTTGGGTTAGCTGGCACCACAATAATGCCATCACAATGGGAGCTGCTCTCACCGCCGTCATGGCCAACCATTGCTGCCATAACCAACACCATCCCCCTGGCACGATCAAAGCCATCTTGTCTCCATCATCACTGATGCCTCATCTCCATGACCGTTGCCATCCGCATCCCCACTCTGCCACCATCACCACTGTCACCCCATCAGCACCACGCCCACAGAGGCGCACTGTGGGTGGGAGTATCCCATCTCATGCTGCAATGCAGGAGGACTGGTGGCCCCATTCTAGAGGACAGCTGGCATGTGCTTTTAGTCTCCCCTATGACCAACAGACAGGCTCCAGTACCCCCAGGAAGGACTCTCATGGGGCCATGGGGGAGCATGCACATTCACTGCAGGAGTGCAGATGCGCTGACATCCTGGCTAACCTATCGCAAGCTGAAAATATCGTAAGTCAGAAGGCATTTACTATGCCTGACCTGCTGCACATCACAGCCTGGCCTACCTTAAATGTGCTCAGACCACATTACCCTACAGTTGGCAAAATCACCTGACGCAAGCCTATTTTACAATAAAGCGTTGAACATCTCATGGGGTTTACTGAACACCATGCTGAAAACGCAAAACAGAAGGGTTACATGGGTACTCCAGGCATGCTTTCTGCGGAATGCATGTTTTTCAACTTCTACACCACCGTAAAGTCAAAAAATCCTAAGCCAAAGCTCATGAGTCAGGGGCCATCTCTGCTCATGGTGGCAAGGAGGGGGCCTGGATGGCCACGTGGTGACCGCACCCCAAGGAGTCGTGTGCAATAGGCAGAAGTCAGGGAGCCCACACAATGCAGGGCAAAGCCTGGGACTGAGCGGAAAACAAAAATCACAGAAGGGAGGTCAGGATGAGATCGATAAGGCTCAGCCATGTACATAAACTAGAAATGCTTGTTGGCCGGGCGTAGTGGTTCACACCTGTCATCCTAGTAGTTTGGGAGGCCAAGGTAGGTGGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTACCGAGGCATGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGTTGAGGCTGGTGAATCAGGTGAACCCGGGAGGTGGTGGTTGCTGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATAAATAAAGCTTGTACACAAAGCAGACGTGCCATGGGAAGACAGGGGCAAACAGGACGACCCGCATTAAACATCAAGGAAGGGCTCCCTTTGGGGAGGGGTGGAGGGGGTTTGGCTCTGCGTGCACCAATGATTGAACAGAGGAGTGCAACTGATGTGTCCGCCACACCCGAGGTGCAGTGAAGAGACAGAAAGTAAAATGTCT
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GACAGTGAGATGAGGGTGGCACACAGTAGGTGCCCCTTAAATGGCTGCTCCTTCTGCCCCAAGATGGGGGCTGAGCTGGCATGGCCAGCATGCAACAGGCAGAGAGGCTACAGCATCCCCCTGGCCTCCCAGTGCCTCAGGGTCCCAGGGATGAGGTGGGTCCCAAACCCCAACAGTGCCTGGTGTCCCCCCACCCGGCCCCGCCACCCACCTGCCTCCTCAGAGTTTTGAAGCAAAGAGGGTCTGCGTGCCACCTCCATCCAAGTCAGAGCGCTGCCCCAACCTAGACCACCCGGAATCCACCCGGGCCGTTCTGCTTTGGCCCCAGAACGTACACAGGCAAAGGTAGCTGGAAACTAATTGCGAAATTTATTCCAGGGCTGTGGGGGCTGGGGTGATCCTTAAGGGCACTTCTCGTTTCAGGGCTGTGGGTCTCCGGCCTTGGCAGGGGCACATGTTTCAGGGGGCGGGGAGGGGAGGTACTGAGACAGGGTGGCGGGAGGCGGGAGGCAGGAGGCAGGGGTGCCCAGTCTCCTCCAACTGGGCAGGCTCAGCACAAGCTGCAACAGTAACATGAAAGCGGGACGGACAGCAGGCACCCCGCCGGGGACAGGAGACAGCCGAGGCCTCTCCCTGGTGCTTCACCCTGCAGAGTGTCCTTCATGACCTAGGACAGGGGGTCAGGGAGCTGAGGGCCAGCTTCATGGGTTTGCAGCAAGGGACCCAACGGGTTGGAGCCACAGAGAGGGGATCAACAGCGCTATCCCTGATCTACAGGCCCGTGCCCCCTCCCAAGTTCACTTGCATTCCCACCCACAGAGACCTGAAGCCCCCAACAGGGCATCCTGCTGTTCACCTAGTGGGTGGAGGGCGGGCAACAGCGCTTCTCTGGATTGGGGCTGGGGCTCAGAAGTAATGACCCAGCACCACCCCAAGGGTACTTAGTAGGCGAGTGTCCGGGGAGAAACCGTCAGCTGTACTTAGTGGCAATCCCCAAGCCCCAGCTTCAGTCCTCAAATCTGTCCCCTTCCCTCCATCACACACACATTTCAAGGAGTGTCTAGAAGCTTAAAAACAAAAAGCGGGGAGAAAAACCTCTTGACTACAACCTTGCAGATAAATACCAGCCTGGGAGGGCCACCTCTGGGTGGGGCTAGGATGTCGATTGTACCAAACGTTCTCCTTGGGTGGGAGAGGGAATCAGTGATGCCTGGAGCAAAGTTTTTTCCCGATGATGTATCAATGCCCCCTCTTGCAGAGGTCAGGTGGGGTAGAAGGGCTAGGGAGAAGGTCTTTTTGTCCTAACCAGTCTCCTAGTGTCCTCTAGGGCCCAATAGCCCCTCTCAATTTAGCAAACTCGGTTATCCTTAGTTTACAAAACAGAGGCTCTCCCTCCTGGTCTCTATGGGGGGAACACTGGAGACCCTCTCTCCTCCCCTAGTTGATACCTGCTCAACTTCTCCCTGTCTGTTTCCAGGAGAGGAGGAAGGGATGACCTCTGATCCAAGGGACGTCGAGGCCCACCAGGGAATCCCGAACCTCCTCCCCGGACCTGCAGGCTTCAGACTCCAGGAGAGAGAGCTGGGAGCAGGGAGGGGGCGGGGCGGGTGGTTAACAGCCACCTCCTTGGGGCACTCCAAGCAGCAGGCAAGTGCCAGTGGCCACTCCACCTCCGCCAGGCCCTGCCCAGCCTCACCCACCTTCCCAAACACACAGTGTCAGAACTCAGGGGCAGCGGCCTCTGGGACGGGGCTGGGGCTCCTCGGTGGGCATCAGAAAATGAACCATGCGGAGCCAGCGGTGTGGCTGCGGCCCCGCCCAGGCCCCGCCCCCAGTCCCGCCCCCAGTCCCGGCCCCGCCCCCGGCCCAGGCTCAAGTCTGCTTGGCTTGCAGCATTTCGATGAGCAGGTTGTTGCGGGGCATCTCGTTGCCCAGGTGCTTGTGGTACAGGTACTCCTTGGCCTGCATGCTCAGGGCCCGCACCTCCACCAGGCACAGCAGCAGCTGCTGGAATTTGTCCCCGCAGTGCGGGTAGTGGCACAGGGTGTCGTCAAGCAGGGCGGCGTTGGCCTTCTCCTGAGCGTCTTTCACCAGGATGTGGTTATTCAGGAACTTCAAATCTGCAAAGGGAGGTTCTCGGTCACCATCGCGTCACCATCCATGCCCATCAGGGCTGGGCCAACACCGTCACCAGCATCACCAATACCACCTTCCCTATGACCATCAAAGACATGGGCATTGCTGCCACCAACCATGCAACATGGTCTCCCCGTTGGCACCGTGTCGCCATCACCATTGCTGTCACCCTGGTTGACAAACACCACCATCGTCACCAATACCCACATGCCTGTGTTTTTCATGAACATGGCCACCGCCACCATCAACCACCCAACCACAGTCACCTGTCACCATCATCACTGCCATCATCATCACCACAGTGGTCACAATGAACAAGAATTATGAAGCCCATCACCAGCCTCCCTCGGGGAGGATCCCTGGGCAGTTATTGAACCTCTCGGTCCCCCATCTGTAAAATGGGCGTGACGACAGTACCAACTTCACAACCTTGTCCTGAGAATTTAGGGAGCCGCTGTGTGGAAAGTGCTCTGAAGAACAGTGTCTGGCACGTGAGAAGCTCGGTGGGTTGGGTTAGCTGGCACCACAATAATGCCATCACAATGGGAGCTGCTCTCACCGCCGTCATGGCCAACCATTGCTGCCATAACCAACACCATCCCCCTGGCACGATCAAAGCCATCTTGTCTCCATCATCACTGATGCCTCATCTCCATGACCGTTGCCATCCGCATCCCCACTCTGCCACCATCACCACTGTCACCCCATCAGCACCACGCCCACAGAGGCGCACTGTGGGTGGGAGTATCCCATCTCATGCTGCAATGCAGGAGGACTGGTGGCCCCATTCTAGAGGACAGCTGGCATGTGCTTTTAGTCTCCCCTATGACCAACAGACAGGCTCCAGTACCCCCAGGAAGGACTCTCATGGGGCCATGGGGGAGCATGCACATTCACTGCAGGAGTGCAGATGCGCTGACATCCTGGCTAACCTATCGCAAGCTGAAAATATCGTAAGTCAGAAGGCATTTACTATGCCTGACCTGCTGCACATCACAGCCTGGCCTACCTTAAATGTGCTCAGACCACATTACCCTACAGTTGGCAAAATCACCTGACGCAAGCCTATTTTACAATAAAGCGTTGAACATCTCATGGGGTTTACTGAACACCATGCTGAAAACGCAAAACAGAAGGGTTACATGGGTACTCCAGGCATGCTTTCTGCGGAATGCATGTTTTTCAACTTCTACACCACCGTAAAGTCAAAAAATCCTAAGCCAAAGCTCATGAGTCAGGGGCCATCTCTGCTCATGGTGGCAAGGAGGGGGCCTGGATGGCCACGTGGTGACCGCACCCCAAGGAGTCGTGTGCAATAGGCAGAAGTCAGGGAGCCCACACAATGCAGGGCAAAGCCTGGGACTGAGCGGAAAACAAAAATCACAGAAGGGAGGTCAGGATGAGATCGATAAGGCTCAGCCATGTACATAAACTAGAAATGCTTGTTGGCCGGGCGTAGTGGTTCACACCTGTCATCCTAGTAGTTTGGGAGGCCAAGGTAGGTGGGTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTACCGAGGCATGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGTTGAGGCTGGTGAATCAGGTGAACCCGGGAGGTGGTGGTTGCTGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATAAATAAAGCTTGTACACAAAGCAGACGTGCCATGGGAAGACAGGGGCAAACAGGACGACCCGCATTAAACATCAAGGAAGGGCTCCCTTTGGGGAGGGGTGGAGGGGGTTTGGCTCTGCGTGCACCAATGATTGAACAGAGGAGTGCAACTGATGTGTCCGCCACACCCGAGGTGCAGTGAAGAGACAGAAAGTAAAATGTCT
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Task1_train_13128
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Chromosome 9 houses a mutation in gene NR5A1 (nuclear receptor subfamily 5 group A member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Non-obstructive azoospermia
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GCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGCTAACACTTCAGAAACCACAAGCGTATGAAAGTTCATCGTTTGCACATGCCAGCACGCACGCATGCAGAGACAGACGTTCACGTAATTCCTGCAGGCTCCACGCCCCAACCACACAGACCCCCACCACGCACATCTGTGACTCTATCCTGTGCCAGTCTGCTGAGCCTGGCAGGCTGCGGGGAAGGTGCCGTTGCGGGCAGAGGTAGGAGGGAGCTTCCCCAGCTGCAGCCAACCGAGCCTGGGTCCCTGAGGCTCCTGTAAGGATTTCAGGCCACAGCTCCTAACTGGCTGCCCAAGATCCTACCCGCCCCCCACCCCAATGGCTGTCCCCTGCTGACCCCTGCAGAGCCCCGGCTGGTGTCCTGAGAGGTGGCTTAAGGTGGCCTTGCAGATAAGCCCTCCAGTTACCAGCCTGTTCTGCCAGAATCGGGAGACCCAGCCCACTGCACCCAGCCACATGGCATGGAGGATGTCACCAATCCCACCCAAGCACTGGGCTTCCCACTTTTCGTTAATCCCCTCTGCCTCCACAACACTCCCCACTCCCCACTCCTCCCTCTCTCTGGCAGGCATGCCCCTCGCAGACTGTGACTATAATGCCAGCCACCAAGACAATACCTTAATCCTGCCCCCTCTCCAGGTGATGAAGCACTCACTCATCTCTATCCCATCCCACCTGCATCACTGCAAAATAATTCATTCCCCCAGAAAACTCCTACTCATCCTCCAAAACCCTGCTCAGATGCCCCTCTTCCAGGAAGCCTTCCAGAAAGAGCTCTGCTCCCCACCCAGGGTTCCCTAAGCCACACCCATCTCTCTGTCTCAGCCCTAACCACCCAGGCTGTAGGTCTTTTCACGATTGGCAAGGGACAGCTATGTCCTCAGCATCTCTGGGCATGGGGAGGGCATTTGTGATGGCTTTCCAGGGAGTGAGGGTGCAGACTGGAGTGGCCCAGGCAGGGTTGGGGTCAGGAGGGCAACGGGAAGGAGACCCCCCAAGTGCTTGGGGAGTGAGGTGGGTGGCCGGGCTGGGCTGGGCCAGGCCTGCTCTCTGCCTCTCCTCTGCTTTCTTTTCCTCCTTAGCACTGGTCACAACCTTCCTGGCTATGCCTGCCTAATCGTGTTAGGAACCTACGTCTTACTAATCATATTATGCTCATGATCTGTCTCCCCTAGAGAAGGTCAGTACCACAAGGGCTGGGCTTGGGGGGTTTTTGCTCACAGCGGTATTCCCAGTGCCTTCTCCAGTGCAATTTCTCGGTGCCTGTTTGTAGAGTCAATGAATGGATGCACGTGTGCATGAGCAAAGGGGTCCAGGCCCCCAGGAGGTACAGTCAAAATTGGGGCCCCCTAGATCCAGGGATTAGAGAAAACAGGGACCCCAGGATGGGAGCCTGGAATAAAAATCCTAAAGTCACATGGGCCACCAGAGCGGGAGCAGCCCCCATTTAAGAGCCAGGCCCTGGCCGGGGGCCCTCAGACCTTTGTTCACTGAATGAGTAAGGGAGGGGTCCTTTCTCCCCGAGGCTCCTTCGTGGCCACTCTGGCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCC
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GCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGCTAACACTTCAGAAACCACAAGCGTATGAAAGTTCATCGTTTGCACATGCCAGCACGCACGCATGCAGAGACAGACGTTCACGTAATTCCTGCAGGCTCCACGCCCCAACCACACAGACCCCCACCACGCACATCTGTGACTCTATCCTGTGCCAGTCTGCTGAGCCTGGCAGGCTGCGGGGAAGGTGCCGTTGCGGGCAGAGGTAGGAGGGAGCTTCCCCAGCTGCAGCCAACCGAGCCTGGGTCCCTGAGGCTCCTGTAAGGATTTCAGGCCACAGCTCCTAACTGGCTGCCCAAGATCCTACCCGCCCCCCACCCCAATGGCTGTCCCCTGCTGACCCCTGCAGAGCCCCGGCTGGTGTCCTGAGAGGTGGCTTAAGGTGGCCTTGCAGATAAGCCCTCCAGTTACCAGCCTGTTCTGCCAGAATCGGGAGACCCAGCCCACTGCACCCAGCCACATGGCATGGAGGATGTCACCAATCCCACCCAAGCACTGGGCTTCCCACTTTTCGTTAATCCCCTCTGCCTCCACAACACTCCCCACTCCCCACTCCTCCCTCTCTCTGGCAGGCATGCCCCTCGCAGACTGTGACTATAATGCCAGCCACCAAGACAATACCTTAATCCTGCCCCCTCTCCAGGTGATGAAGCACTCACTCATCTCTATCCCATCCCACCTGCATCACTGCAAAATAATTCATTCCCCCAGAAAACTCCTACTCATCCTCCAAAACCCTGCTCAGATGCCCCTCTTCCAGGAAGCCTTCCAGAAAGAGCTCTGCTCCCCACCCAGGGTTCCCTAAGCCACACCCATCTCTCTGTCTCAGCCCTAACCACCCAGGCTGTAGGTCTTTTCACGATTGGCAAGGGACAGCTATGTCCTCAGCATCTCTGGGCATGGGGAGGGCATTTGTGATGGCTTTCCAGGGAGTGAGGGTGCAGACTGGAGTGGCCCAGGCAGGGTTGGGGTCAGGAGGGCAACGGGAAGGAGACCCCCCAAGTGCTTGGGGAGTGAGGTGGGTGGCCGGGCTGGGCTGGGCCAGGCCTGCTCTCTGCCTCTCCTCTGCTTTCTTTTCCTCCTTAGCACTGGTCACAACCTTCCTGGCTATGCCTGCCTAATCGTGTTAGGAACCTACGTCTTACTAATCATATTATGCTCATGATCTGTCTCCCCTAGAGAAGGTCAGTACCACAAGGGCTGGGCTTGGGGGGTTTTTGCTCACAGCGGTATTCCCAGTGCCTTCTCCAGTGCAATTTCTCGGTGCCTGTTTGTAGAGTCAATGAATGGATGCACGTGTGCATGAGCAAAGGGGTCCAGGCCCCCAGGAGGTACAGTCAAAATTGGGGCCCCCTAGATCCAGGGATTAGAGAAAACAGGGACCCCAGGATGGGAGCCTGGAATAAAAATCCTAAAGTCACATGGGCCACCAGAGCGGGAGCAGCCCCCATTTAAGAGCCAGGCCCTGGCCGGGGGCCCTCAGACCTTTGTTCACTGAATGAGTAAGGGAGGGGTCCTTTCTCCCCGAGGCTCCTTCGTGGCCACTCTGGCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCACCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCC
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Task1_train_13129
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The gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Male infertility
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GCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGCTAACACTTCAGAAACCACAAGCGTATGAAAGTTCATCGTTTGCACATGCCAGCACGCACGCATGCAGAGACAGACGTTCACGTAATTCCTGCAGGCTCCACGCCCCAACCACACAGACCCCCACCACGCACATCTGTGACTCTATCCTGTGCCAGTCTGCTGAGCCTGGCAGGCTGCGGGGAAGGTGCCGTTGCGGGCAGAGGTAGGAGGGAGCTTCCCCAGCTGCAGCCAACCGAGCCTGGGTCCCTGAGGCTCCTGTAAGGATTTCAGGCCACAGCTCCTAACTGGCTGCCCAAGATCCTACCCGCCCCCCACCCCAATGGCTGTCCCCTGCTGACCCCTGCAGAGCCCCGGCTGGTGTCCTGAGAGGTGGCTTAAGGTGGCCTTGCAGATAAGCCCTCCAGTTACCAGCCTGTTCTGCCAGAATCGGGAGACCCAGCCCACTGCACCCAGCCACATGGCATGGAGGATGTCACCAATCCCACCCAAGCACTGGGCTTCCCACTTTTCGTTAATCCCCTCTGCCTCCACAACACTCCCCACTCCCCACTCCTCCCTCTCTCTGGCAGGCATGCCCCTCGCAGACTGTGACTATAATGCCAGCCACCAAGACAATACCTTAATCCTGCCCCCTCTCCAGGTGATGAAGCACTCACTCATCTCTATCCCATCCCACCTGCATCACTGCAAAATAATTCATTCCCCCAGAAAACTCCTACTCATCCTCCAAAACCCTGCTCAGATGCCCCTCTTCCAGGAAGCCTTCCAGAAAGAGCTCTGCTCCCCACCCAGGGTTCCCTAAGCCACACCCATCTCTCTGTCTCAGCCCTAACCACCCAGGCTGTAGGTCTTTTCACGATTGGCAAGGGACAGCTATGTCCTCAGCATCTCTGGGCATGGGGAGGGCATTTGTGATGGCTTTCCAGGGAGTGAGGGTGCAGACTGGAGTGGCCCAGGCAGGGTTGGGGTCAGGAGGGCAACGGGAAGGAGACCCCCCAAGTGCTTGGGGAGTGAGGTGGGTGGCCGGGCTGGGCTGGGCCAGGCCTGCTCTCTGCCTCTCCTCTGCTTTCTTTTCCTCCTTAGCACTGGTCACAACCTTCCTGGCTATGCCTGCCTAATCGTGTTAGGAACCTACGTCTTACTAATCATATTATGCTCATGATCTGTCTCCCCTAGAGAAGGTCAGTACCACAAGGGCTGGGCTTGGGGGGTTTTTGCTCACAGCGGTATTCCCAGTGCCTTCTCCAGTGCAATTTCTCGGTGCCTGTTTGTAGAGTCAATGAATGGATGCACGTGTGCATGAGCAAAGGGGTCCAGGCCCCCAGGAGGTACAGTCAAAATTGGGGCCCCCTAGATCCAGGGATTAGAGAAAACAGGGACCCCAGGATGGGAGCCTGGAATAAAAATCCTAAAGTCACATGGGCCACCAGAGCGGGAGCAGCCCCCATTTAAGAGCCAGGCCCTGGCCGGGGGCCCTCAGACCTTTGTTCACTGAATGAGTAAGGGAGGGGTCCTTTCTCCCCGAGGCTCCTTCGTGGCCACTCTGGCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCC
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GCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGCTAACACTTCAGAAACCACAAGCGTATGAAAGTTCATCGTTTGCACATGCCAGCACGCACGCATGCAGAGACAGACGTTCACGTAATTCCTGCAGGCTCCACGCCCCAACCACACAGACCCCCACCACGCACATCTGTGACTCTATCCTGTGCCAGTCTGCTGAGCCTGGCAGGCTGCGGGGAAGGTGCCGTTGCGGGCAGAGGTAGGAGGGAGCTTCCCCAGCTGCAGCCAACCGAGCCTGGGTCCCTGAGGCTCCTGTAAGGATTTCAGGCCACAGCTCCTAACTGGCTGCCCAAGATCCTACCCGCCCCCCACCCCAATGGCTGTCCCCTGCTGACCCCTGCAGAGCCCCGGCTGGTGTCCTGAGAGGTGGCTTAAGGTGGCCTTGCAGATAAGCCCTCCAGTTACCAGCCTGTTCTGCCAGAATCGGGAGACCCAGCCCACTGCACCCAGCCACATGGCATGGAGGATGTCACCAATCCCACCCAAGCACTGGGCTTCCCACTTTTCGTTAATCCCCTCTGCCTCCACAACACTCCCCACTCCCCACTCCTCCCTCTCTCTGGCAGGCATGCCCCTCGCAGACTGTGACTATAATGCCAGCCACCAAGACAATACCTTAATCCTGCCCCCTCTCCAGGTGATGAAGCACTCACTCATCTCTATCCCATCCCACCTGCATCACTGCAAAATAATTCATTCCCCCAGAAAACTCCTACTCATCCTCCAAAACCCTGCTCAGATGCCCCTCTTCCAGGAAGCCTTCCAGAAAGAGCTCTGCTCCCCACCCAGGGTTCCCTAAGCCACACCCATCTCTCTGTCTCAGCCCTAACCACCCAGGCTGTAGGTCTTTTCACGATTGGCAAGGGACAGCTATGTCCTCAGCATCTCTGGGCATGGGGAGGGCATTTGTGATGGCTTTCCAGGGAGTGAGGGTGCAGACTGGAGTGGCCCAGGCAGGGTTGGGGTCAGGAGGGCAACGGGAAGGAGACCCCCCAAGTGCTTGGGGAGTGAGGTGGGTGGCCGGGCTGGGCTGGGCCAGGCCTGCTCTCTGCCTCTCCTCTGCTTTCTTTTCCTCCTTAGCACTGGTCACAACCTTCCTGGCTATGCCTGCCTAATCGTGTTAGGAACCTACGTCTTACTAATCATATTATGCTCATGATCTGTCTCCCCTAGAGAAGGTCAGTACCACAAGGGCTGGGCTTGGGGGGTTTTTGCTCACAGCGGTATTCCCAGTGCCTTCTCCAGTGCAATTTCTCGGTGCCTGTTTGTAGAGTCAATGAATGGATGCACGTGTGCATGAGCAAAGGGGTCCAGGCCCCCAGGAGGTACAGTCAAAATTGGGGCCCCCTAGATCCAGGGATTAGAGAAAACAGGGACCCCAGGATGGGAGCCTGGAATAAAAATCCTAAAGTCACATGGGCCACCAGAGCGGGAGCAGCCCCCATTTAAGAGCCAGGCCCTGGCCGGGGGCCCTCAGACCTTTGTTCACTGAATGAGTAAGGGAGGGGTCCTTTCTCCCCGAGGCTCCTTCGTGGCCACTCTGGCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCACCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCC
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Task1_train_13130
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Assess the clinical impact of this variant on gene NR5A1 (nuclear receptor subfamily 5 group A member 1), found on Chromosome 9. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; 46,XY sex reversal 3
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TGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGCTAACACTTCAGAAACCACAAGCGTATGAAAGTTCATCGTTTGCACATGCCAGCACGCACGCATGCAGAGACAGACGTTCACGTAATTCCTGCAGGCTCCACGCCCCAACCACACAGACCCCCACCACGCACATCTGTGACTCTATCCTGTGCCAGTCTGCTGAGCCTGGCAGGCTGCGGGGAAGGTGCCGTTGCGGGCAGAGGTAGGAGGGAGCTTCCCCAGCTGCAGCCAACCGAGCCTGGGTCCCTGAGGCTCCTGTAAGGATTTCAGGCCACAGCTCCTAACTGGCTGCCCAAGATCCTACCCGCCCCCCACCCCAATGGCTGTCCCCTGCTGACCCCTGCAGAGCCCCGGCTGGTGTCCTGAGAGGTGGCTTAAGGTGGCCTTGCAGATAAGCCCTCCAGTTACCAGCCTGTTCTGCCAGAATCGGGAGACCCAGCCCACTGCACCCAGCCACATGGCATGGAGGATGTCACCAATCCCACCCAAGCACTGGGCTTCCCACTTTTCGTTAATCCCCTCTGCCTCCACAACACTCCCCACTCCCCACTCCTCCCTCTCTCTGGCAGGCATGCCCCTCGCAGACTGTGACTATAATGCCAGCCACCAAGACAATACCTTAATCCTGCCCCCTCTCCAGGTGATGAAGCACTCACTCATCTCTATCCCATCCCACCTGCATCACTGCAAAATAATTCATTCCCCCAGAAAACTCCTACTCATCCTCCAAAACCCTGCTCAGATGCCCCTCTTCCAGGAAGCCTTCCAGAAAGAGCTCTGCTCCCCACCCAGGGTTCCCTAAGCCACACCCATCTCTCTGTCTCAGCCCTAACCACCCAGGCTGTAGGTCTTTTCACGATTGGCAAGGGACAGCTATGTCCTCAGCATCTCTGGGCATGGGGAGGGCATTTGTGATGGCTTTCCAGGGAGTGAGGGTGCAGACTGGAGTGGCCCAGGCAGGGTTGGGGTCAGGAGGGCAACGGGAAGGAGACCCCCCAAGTGCTTGGGGAGTGAGGTGGGTGGCCGGGCTGGGCTGGGCCAGGCCTGCTCTCTGCCTCTCCTCTGCTTTCTTTTCCTCCTTAGCACTGGTCACAACCTTCCTGGCTATGCCTGCCTAATCGTGTTAGGAACCTACGTCTTACTAATCATATTATGCTCATGATCTGTCTCCCCTAGAGAAGGTCAGTACCACAAGGGCTGGGCTTGGGGGGTTTTTGCTCACAGCGGTATTCCCAGTGCCTTCTCCAGTGCAATTTCTCGGTGCCTGTTTGTAGAGTCAATGAATGGATGCACGTGTGCATGAGCAAAGGGGTCCAGGCCCCCAGGAGGTACAGTCAAAATTGGGGCCCCCTAGATCCAGGGATTAGAGAAAACAGGGACCCCAGGATGGGAGCCTGGAATAAAAATCCTAAAGTCACATGGGCCACCAGAGCGGGAGCAGCCCCCATTTAAGAGCCAGGCCCTGGCCGGGGGCCCTCAGACCTTTGTTCACTGAATGAGTAAGGGAGGGGTCCTTTCTCCCCGAGGCTCCTTCGTGGCCACTCTGGCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCCTTCT
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TGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAAATTACTCATGTTCCCAGATCTCCCGGTCCATCCCCAGTCACACACAAACTCTTCACACAGGCTAACACTTCAGAAACCACAAGCGTATGAAAGTTCATCGTTTGCACATGCCAGCACGCACGCATGCAGAGACAGACGTTCACGTAATTCCTGCAGGCTCCACGCCCCAACCACACAGACCCCCACCACGCACATCTGTGACTCTATCCTGTGCCAGTCTGCTGAGCCTGGCAGGCTGCGGGGAAGGTGCCGTTGCGGGCAGAGGTAGGAGGGAGCTTCCCCAGCTGCAGCCAACCGAGCCTGGGTCCCTGAGGCTCCTGTAAGGATTTCAGGCCACAGCTCCTAACTGGCTGCCCAAGATCCTACCCGCCCCCCACCCCAATGGCTGTCCCCTGCTGACCCCTGCAGAGCCCCGGCTGGTGTCCTGAGAGGTGGCTTAAGGTGGCCTTGCAGATAAGCCCTCCAGTTACCAGCCTGTTCTGCCAGAATCGGGAGACCCAGCCCACTGCACCCAGCCACATGGCATGGAGGATGTCACCAATCCCACCCAAGCACTGGGCTTCCCACTTTTCGTTAATCCCCTCTGCCTCCACAACACTCCCCACTCCCCACTCCTCCCTCTCTCTGGCAGGCATGCCCCTCGCAGACTGTGACTATAATGCCAGCCACCAAGACAATACCTTAATCCTGCCCCCTCTCCAGGTGATGAAGCACTCACTCATCTCTATCCCATCCCACCTGCATCACTGCAAAATAATTCATTCCCCCAGAAAACTCCTACTCATCCTCCAAAACCCTGCTCAGATGCCCCTCTTCCAGGAAGCCTTCCAGAAAGAGCTCTGCTCCCCACCCAGGGTTCCCTAAGCCACACCCATCTCTCTGTCTCAGCCCTAACCACCCAGGCTGTAGGTCTTTTCACGATTGGCAAGGGACAGCTATGTCCTCAGCATCTCTGGGCATGGGGAGGGCATTTGTGATGGCTTTCCAGGGAGTGAGGGTGCAGACTGGAGTGGCCCAGGCAGGGTTGGGGTCAGGAGGGCAACGGGAAGGAGACCCCCCAAGTGCTTGGGGAGTGAGGTGGGTGGCCGGGCTGGGCTGGGCCAGGCCTGCTCTCTGCCTCTCCTCTGCTTTCTTTTCCTCCTTAGCACTGGTCACAACCTTCCTGGCTATGCCTGCCTAATCGTGTTAGGAACCTACGTCTTACTAATCATATTATGCTCATGATCTGTCTCCCCTAGAGAAGGTCAGTACCACAAGGGCTGGGCTTGGGGGGTTTTTGCTCACAGCGGTATTCCCAGTGCCTTCTCCAGTGCAATTTCTCGGTGCCTGTTTGTAGAGTCAATGAATGGATGCACGTGTGCATGAGCAAAGGGGTCCAGGCCCCCAGGAGGTACAGTCAAAATTGGGGCCCCCTAGATCCAGGGATTAGAGAAAACAGGGACCCCAGGATGGGAGCCTGGAATAAAAATCCTAAAGTCACATGGGCCACCAGAGCGGGAGCAGCCCCCATTTAAGAGCCAGGCCCTGGCCGGGGGCCCTCAGACCTTTGTTCACTGAATGAGTAAGGGAGGGGTCCTTTCTCCCCGAGGCTCCTTCGTGGCCACTCTGGCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCACAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCCTTCT
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Task1_train_13131
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Located on Chromosome 9, this mutation impacts NR5A1 (nuclear receptor subfamily 5 group A member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; 46,XY sex reversal 3
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GCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCCTTCTCCTCCCACTGAGACCCAACTAGGCGTGCAGCCTGGGCAAGCTAACCTCTCTGTGCCCATCTACCCAGATGTCTAGGCTATCAAAGTGCAACAGAGGTCTGGCCAGTTAACAAAGGGATGTTTGGGGGTTGAATGGGCCAGGCTTCAGGCCCCACCTCTGTCTTTTGTATGACTTTACGTAAGTCCTGGTAACCTTTCTGTGCCTCAGTTTTCTCATCTGTAAAGTGGGCAAAGTACTGAGCGGACAGTCCAGTACATGTTAGGTATGCCATACATGTTAGTGACTAATGTCCATGCAGGTGCTCTGCAAAGGACTCCTACAAATGCCTGGCAAGGTTATTATTAATTTTAACCTTGTCCACATTTAAAAGCCTGTGGTCGGTCACACCTCTGGCAGCCCCAACTGCTCAAACAGGAGCCATGAGGGAGAAACCAAGGGCTTCCCCCCCGGGCCTACGCAGAGCTCTCAGGCTCAGGAGGAGGAGGGAGGTCCCACCTGGCCTGAGGTCAGGCCCAGGGCATGAGCAGGGGGGCGGCAATGGCCTGGCACATGAAGCAGAAACGAACAGCAACAAGGGGCTGATTCCGAATGCCCAGGCTGCGGCCAGAGACACTCGGTGCAGGGGCAGGGCCAGCCCCTGTTTGGAGTGTCCTTTGACTCTGCAGGACTCAGAAGCAGAGCCAGGGATCCCCTGGCCCCAATCCCTATTTTTCAGCTGAGGAATCCGCCACCCGGAAAGGGCAAGAGACTCTCCCGGGATCACACAGAGGCAGGGCCAGGCCAGGGCCACGGCTGGCATTCCCGGTCCACAATCTCCACTGTGACAAAACGAGCCCTTCTGGGTATTTGGAAGCACACTGGGCACTGCAGATGGGCCTGGGCAGACACAGCCCCATCCCTCTCAGCCCGTGCCACTCACCAGCTGGCCACCATCGACCCAAAAGACACTTCTGGCGCACCTTCCTGGGCCGTGCCCTATGGCAAATGCAAACCATGACAGCTGACAGTCATTCCACTGCAGCCCTACAGCCCTGCGAGTTTCGTATAGTCGCCACCCACATGATAGAGAGAAGAAACTGAACAGAGAGGCCACACAGCTCTGTCTAGTTCCAGATTTGCGCTCTTAACCACTAGGTGTGGAAGAGGACCTCTCACTCACCCTCCTTGCCATCCAGGAGTTCCTGGTCTCTCACAGGCTCCTTGCCTCCTCTACAGATCCTCTACCTGATCCCTCTCCTTCCTCGAGGCCCTCTCCACCCTCTGGATGCAGAATCTGCAACATCTCATGGCATCAGTTAAATGCCTCTGTCTTCACCAATACCTGTGAGGTCTGGGGAGGCAGAACTGGTGTTCAGCTCTTCTCTGGGCCCCAGAGCAGTGGTCAGAGGGGCTGATGACTGGCAAGGTGCTCCCCAAGACAAGCACAGAGAGCAGAGGGACCACTGCCCACCTGGGGCCAGAGACACAGAGAGGCCACTCCCCACCTGGGGCCAGAGACTCAGAGGGGCCACTCACCACCTGGGGCCAGAGACTCAGAGAGACCACTCCCCACTGGGGGCCAGGGGCTCAGAAGGGCCACTCCCCACCTGGGGCCAGAGGCACACAGAGACCACTCTCTACCTGGGACCAGAGGCTCAGAGGGACTGCTCCCCACCTAGGGGCGGCCCCCAGTCAGAGGGGAACTGGGCCAAGCCTAATGAACAGCTCTGTCTCGTAGGAGATAGAAGCACCCCGCTCTCTGTTCCCCTTCTCTCCTGGGGCGTCCCTGGGGCCTGTGTCCTCAGGCAGACAGAAGGGGAGAAAAGGAGAGGGAGAAGTCAGGAACTGCACACAGACAGACCTCCGGGCCCACGTGGTGGAAAAGAG
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GCCACAGCAGGGCTACCTCTCCAGCCTCACCCACCCTCCCACCCACCCGCCTCTGGCTGTCTCCACCTCTCTGTCACTGGAGCTGCACTCACCCAGGCTGAAGAGGATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCACGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCCTTCTCCTCCCACTGAGACCCAACTAGGCGTGCAGCCTGGGCAAGCTAACCTCTCTGTGCCCATCTACCCAGATGTCTAGGCTATCAAAGTGCAACAGAGGTCTGGCCAGTTAACAAAGGGATGTTTGGGGGTTGAATGGGCCAGGCTTCAGGCCCCACCTCTGTCTTTTGTATGACTTTACGTAAGTCCTGGTAACCTTTCTGTGCCTCAGTTTTCTCATCTGTAAAGTGGGCAAAGTACTGAGCGGACAGTCCAGTACATGTTAGGTATGCCATACATGTTAGTGACTAATGTCCATGCAGGTGCTCTGCAAAGGACTCCTACAAATGCCTGGCAAGGTTATTATTAATTTTAACCTTGTCCACATTTAAAAGCCTGTGGTCGGTCACACCTCTGGCAGCCCCAACTGCTCAAACAGGAGCCATGAGGGAGAAACCAAGGGCTTCCCCCCCGGGCCTACGCAGAGCTCTCAGGCTCAGGAGGAGGAGGGAGGTCCCACCTGGCCTGAGGTCAGGCCCAGGGCATGAGCAGGGGGGCGGCAATGGCCTGGCACATGAAGCAGAAACGAACAGCAACAAGGGGCTGATTCCGAATGCCCAGGCTGCGGCCAGAGACACTCGGTGCAGGGGCAGGGCCAGCCCCTGTTTGGAGTGTCCTTTGACTCTGCAGGACTCAGAAGCAGAGCCAGGGATCCCCTGGCCCCAATCCCTATTTTTCAGCTGAGGAATCCGCCACCCGGAAAGGGCAAGAGACTCTCCCGGGATCACACAGAGGCAGGGCCAGGCCAGGGCCACGGCTGGCATTCCCGGTCCACAATCTCCACTGTGACAAAACGAGCCCTTCTGGGTATTTGGAAGCACACTGGGCACTGCAGATGGGCCTGGGCAGACACAGCCCCATCCCTCTCAGCCCGTGCCACTCACCAGCTGGCCACCATCGACCCAAAAGACACTTCTGGCGCACCTTCCTGGGCCGTGCCCTATGGCAAATGCAAACCATGACAGCTGACAGTCATTCCACTGCAGCCCTACAGCCCTGCGAGTTTCGTATAGTCGCCACCCACATGATAGAGAGAAGAAACTGAACAGAGAGGCCACACAGCTCTGTCTAGTTCCAGATTTGCGCTCTTAACCACTAGGTGTGGAAGAGGACCTCTCACTCACCCTCCTTGCCATCCAGGAGTTCCTGGTCTCTCACAGGCTCCTTGCCTCCTCTACAGATCCTCTACCTGATCCCTCTCCTTCCTCGAGGCCCTCTCCACCCTCTGGATGCAGAATCTGCAACATCTCATGGCATCAGTTAAATGCCTCTGTCTTCACCAATACCTGTGAGGTCTGGGGAGGCAGAACTGGTGTTCAGCTCTTCTCTGGGCCCCAGAGCAGTGGTCAGAGGGGCTGATGACTGGCAAGGTGCTCCCCAAGACAAGCACAGAGAGCAGAGGGACCACTGCCCACCTGGGGCCAGAGACACAGAGAGGCCACTCCCCACCTGGGGCCAGAGACTCAGAGGGGCCACTCACCACCTGGGGCCAGAGACTCAGAGAGACCACTCCCCACTGGGGGCCAGGGGCTCAGAAGGGCCACTCCCCACCTGGGGCCAGAGGCACACAGAGACCACTCTCTACCTGGGACCAGAGGCTCAGAGGGACTGCTCCCCACCTAGGGGCGGCCCCCAGTCAGAGGGGAACTGGGCCAAGCCTAATGAACAGCTCTGTCTCGTAGGAGATAGAAGCACCCCGCTCTCTGTTCCCCTTCTCTCCTGGGGCGTCCCTGGGGCCTGTGTCCTCAGGCAGACAGAAGGGGAGAAAAGGAGAGGGAGAAGTCAGGAACTGCACACAGACAGACCTCCGGGCCCACGTGGTGGAAAAGAG
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Task1_train_13132
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This mutation is located in gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Premature ovarian failure 7
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ATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCCTTCTCCTCCCACTGAGACCCAACTAGGCGTGCAGCCTGGGCAAGCTAACCTCTCTGTGCCCATCTACCCAGATGTCTAGGCTATCAAAGTGCAACAGAGGTCTGGCCAGTTAACAAAGGGATGTTTGGGGGTTGAATGGGCCAGGCTTCAGGCCCCACCTCTGTCTTTTGTATGACTTTACGTAAGTCCTGGTAACCTTTCTGTGCCTCAGTTTTCTCATCTGTAAAGTGGGCAAAGTACTGAGCGGACAGTCCAGTACATGTTAGGTATGCCATACATGTTAGTGACTAATGTCCATGCAGGTGCTCTGCAAAGGACTCCTACAAATGCCTGGCAAGGTTATTATTAATTTTAACCTTGTCCACATTTAAAAGCCTGTGGTCGGTCACACCTCTGGCAGCCCCAACTGCTCAAACAGGAGCCATGAGGGAGAAACCAAGGGCTTCCCCCCCGGGCCTACGCAGAGCTCTCAGGCTCAGGAGGAGGAGGGAGGTCCCACCTGGCCTGAGGTCAGGCCCAGGGCATGAGCAGGGGGGCGGCAATGGCCTGGCACATGAAGCAGAAACGAACAGCAACAAGGGGCTGATTCCGAATGCCCAGGCTGCGGCCAGAGACACTCGGTGCAGGGGCAGGGCCAGCCCCTGTTTGGAGTGTCCTTTGACTCTGCAGGACTCAGAAGCAGAGCCAGGGATCCCCTGGCCCCAATCCCTATTTTTCAGCTGAGGAATCCGCCACCCGGAAAGGGCAAGAGACTCTCCCGGGATCACACAGAGGCAGGGCCAGGCCAGGGCCACGGCTGGCATTCCCGGTCCACAATCTCCACTGTGACAAAACGAGCCCTTCTGGGTATTTGGAAGCACACTGGGCACTGCAGATGGGCCTGGGCAGACACAGCCCCATCCCTCTCAGCCCGTGCCACTCACCAGCTGGCCACCATCGACCCAAAAGACACTTCTGGCGCACCTTCCTGGGCCGTGCCCTATGGCAAATGCAAACCATGACAGCTGACAGTCATTCCACTGCAGCCCTACAGCCCTGCGAGTTTCGTATAGTCGCCACCCACATGATAGAGAGAAGAAACTGAACAGAGAGGCCACACAGCTCTGTCTAGTTCCAGATTTGCGCTCTTAACCACTAGGTGTGGAAGAGGACCTCTCACTCACCCTCCTTGCCATCCAGGAGTTCCTGGTCTCTCACAGGCTCCTTGCCTCCTCTACAGATCCTCTACCTGATCCCTCTCCTTCCTCGAGGCCCTCTCCACCCTCTGGATGCAGAATCTGCAACATCTCATGGCATCAGTTAAATGCCTCTGTCTTCACCAATACCTGTGAGGTCTGGGGAGGCAGAACTGGTGTTCAGCTCTTCTCTGGGCCCCAGAGCAGTGGTCAGAGGGGCTGATGACTGGCAAGGTGCTCCCCAAGACAAGCACAGAGAGCAGAGGGACCACTGCCCACCTGGGGCCAGAGACACAGAGAGGCCACTCCCCACCTGGGGCCAGAGACTCAGAGGGGCCACTCACCACCTGGGGCCAGAGACTCAGAGAGACCACTCCCCACTGGGGGCCAGGGGCTCAGAAGGGCCACTCCCCACCTGGGGCCAGAGGCACACAGAGACCACTCTCTACCTGGGACCAGAGGCTCAGAGGGACTGCTCCCCACCTAGGGGCGGCCCCCAGTCAGAGGGGAACTGGGCCAAGCCTAATGAACAGCTCTGTCTCGTAGGAGATAGAAGCACCCCGCTCTCTGTTCCCCTTCTCTCCTGGGGCGTCCCTGGGGCCTGTGTCCTCAGGCAGACAGAAGGGGAGAAAAGGAGAGGGAGAAGTCAGGAACTGCACACAGACAGACCTCCGGGCCCACGTGGTGGAAAAGAGGGAGGTCTGTGTCCATTCCCTCCATCCACACCTCACCTCTGGGTCCAGAGCTCCCTCCAGCTCCCAGCAAAGCTTTCTTCCCAGAGCCCCTACCATCAGCCGTGTG
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ATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTTGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCCTTCTCCTCCCACTGAGACCCAACTAGGCGTGCAGCCTGGGCAAGCTAACCTCTCTGTGCCCATCTACCCAGATGTCTAGGCTATCAAAGTGCAACAGAGGTCTGGCCAGTTAACAAAGGGATGTTTGGGGGTTGAATGGGCCAGGCTTCAGGCCCCACCTCTGTCTTTTGTATGACTTTACGTAAGTCCTGGTAACCTTTCTGTGCCTCAGTTTTCTCATCTGTAAAGTGGGCAAAGTACTGAGCGGACAGTCCAGTACATGTTAGGTATGCCATACATGTTAGTGACTAATGTCCATGCAGGTGCTCTGCAAAGGACTCCTACAAATGCCTGGCAAGGTTATTATTAATTTTAACCTTGTCCACATTTAAAAGCCTGTGGTCGGTCACACCTCTGGCAGCCCCAACTGCTCAAACAGGAGCCATGAGGGAGAAACCAAGGGCTTCCCCCCCGGGCCTACGCAGAGCTCTCAGGCTCAGGAGGAGGAGGGAGGTCCCACCTGGCCTGAGGTCAGGCCCAGGGCATGAGCAGGGGGGCGGCAATGGCCTGGCACATGAAGCAGAAACGAACAGCAACAAGGGGCTGATTCCGAATGCCCAGGCTGCGGCCAGAGACACTCGGTGCAGGGGCAGGGCCAGCCCCTGTTTGGAGTGTCCTTTGACTCTGCAGGACTCAGAAGCAGAGCCAGGGATCCCCTGGCCCCAATCCCTATTTTTCAGCTGAGGAATCCGCCACCCGGAAAGGGCAAGAGACTCTCCCGGGATCACACAGAGGCAGGGCCAGGCCAGGGCCACGGCTGGCATTCCCGGTCCACAATCTCCACTGTGACAAAACGAGCCCTTCTGGGTATTTGGAAGCACACTGGGCACTGCAGATGGGCCTGGGCAGACACAGCCCCATCCCTCTCAGCCCGTGCCACTCACCAGCTGGCCACCATCGACCCAAAAGACACTTCTGGCGCACCTTCCTGGGCCGTGCCCTATGGCAAATGCAAACCATGACAGCTGACAGTCATTCCACTGCAGCCCTACAGCCCTGCGAGTTTCGTATAGTCGCCACCCACATGATAGAGAGAAGAAACTGAACAGAGAGGCCACACAGCTCTGTCTAGTTCCAGATTTGCGCTCTTAACCACTAGGTGTGGAAGAGGACCTCTCACTCACCCTCCTTGCCATCCAGGAGTTCCTGGTCTCTCACAGGCTCCTTGCCTCCTCTACAGATCCTCTACCTGATCCCTCTCCTTCCTCGAGGCCCTCTCCACCCTCTGGATGCAGAATCTGCAACATCTCATGGCATCAGTTAAATGCCTCTGTCTTCACCAATACCTGTGAGGTCTGGGGAGGCAGAACTGGTGTTCAGCTCTTCTCTGGGCCCCAGAGCAGTGGTCAGAGGGGCTGATGACTGGCAAGGTGCTCCCCAAGACAAGCACAGAGAGCAGAGGGACCACTGCCCACCTGGGGCCAGAGACACAGAGAGGCCACTCCCCACCTGGGGCCAGAGACTCAGAGGGGCCACTCACCACCTGGGGCCAGAGACTCAGAGAGACCACTCCCCACTGGGGGCCAGGGGCTCAGAAGGGCCACTCCCCACCTGGGGCCAGAGGCACACAGAGACCACTCTCTACCTGGGACCAGAGGCTCAGAGGGACTGCTCCCCACCTAGGGGCGGCCCCCAGTCAGAGGGGAACTGGGCCAAGCCTAATGAACAGCTCTGTCTCGTAGGAGATAGAAGCACCCCGCTCTCTGTTCCCCTTCTCTCCTGGGGCGTCCCTGGGGCCTGTGTCCTCAGGCAGACAGAAGGGGAGAAAAGGAGAGGGAGAAGTCAGGAACTGCACACAGACAGACCTCCGGGCCCACGTGGTGGAAAAGAGGGAGGTCTGTGTCCATTCCCTCCATCCACACCTCACCTCTGGGTCCAGAGCTCCCTCCAGCTCCCAGCAAAGCTTTCTTCCCAGAGCCCCTACCATCAGCCGTGTG
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Task1_train_13133
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The variant affects gene NR5A1 (nuclear receptor subfamily 5 group A member 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; 46,XY sex reversal 3
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ATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTCGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCCTTCTCCTCCCACTGAGACCCAACTAGGCGTGCAGCCTGGGCAAGCTAACCTCTCTGTGCCCATCTACCCAGATGTCTAGGCTATCAAAGTGCAACAGAGGTCTGGCCAGTTAACAAAGGGATGTTTGGGGGTTGAATGGGCCAGGCTTCAGGCCCCACCTCTGTCTTTTGTATGACTTTACGTAAGTCCTGGTAACCTTTCTGTGCCTCAGTTTTCTCATCTGTAAAGTGGGCAAAGTACTGAGCGGACAGTCCAGTACATGTTAGGTATGCCATACATGTTAGTGACTAATGTCCATGCAGGTGCTCTGCAAAGGACTCCTACAAATGCCTGGCAAGGTTATTATTAATTTTAACCTTGTCCACATTTAAAAGCCTGTGGTCGGTCACACCTCTGGCAGCCCCAACTGCTCAAACAGGAGCCATGAGGGAGAAACCAAGGGCTTCCCCCCCGGGCCTACGCAGAGCTCTCAGGCTCAGGAGGAGGAGGGAGGTCCCACCTGGCCTGAGGTCAGGCCCAGGGCATGAGCAGGGGGGCGGCAATGGCCTGGCACATGAAGCAGAAACGAACAGCAACAAGGGGCTGATTCCGAATGCCCAGGCTGCGGCCAGAGACACTCGGTGCAGGGGCAGGGCCAGCCCCTGTTTGGAGTGTCCTTTGACTCTGCAGGACTCAGAAGCAGAGCCAGGGATCCCCTGGCCCCAATCCCTATTTTTCAGCTGAGGAATCCGCCACCCGGAAAGGGCAAGAGACTCTCCCGGGATCACACAGAGGCAGGGCCAGGCCAGGGCCACGGCTGGCATTCCCGGTCCACAATCTCCACTGTGACAAAACGAGCCCTTCTGGGTATTTGGAAGCACACTGGGCACTGCAGATGGGCCTGGGCAGACACAGCCCCATCCCTCTCAGCCCGTGCCACTCACCAGCTGGCCACCATCGACCCAAAAGACACTTCTGGCGCACCTTCCTGGGCCGTGCCCTATGGCAAATGCAAACCATGACAGCTGACAGTCATTCCACTGCAGCCCTACAGCCCTGCGAGTTTCGTATAGTCGCCACCCACATGATAGAGAGAAGAAACTGAACAGAGAGGCCACACAGCTCTGTCTAGTTCCAGATTTGCGCTCTTAACCACTAGGTGTGGAAGAGGACCTCTCACTCACCCTCCTTGCCATCCAGGAGTTCCTGGTCTCTCACAGGCTCCTTGCCTCCTCTACAGATCCTCTACCTGATCCCTCTCCTTCCTCGAGGCCCTCTCCACCCTCTGGATGCAGAATCTGCAACATCTCATGGCATCAGTTAAATGCCTCTGTCTTCACCAATACCTGTGAGGTCTGGGGAGGCAGAACTGGTGTTCAGCTCTTCTCTGGGCCCCAGAGCAGTGGTCAGAGGGGCTGATGACTGGCAAGGTGCTCCCCAAGACAAGCACAGAGAGCAGAGGGACCACTGCCCACCTGGGGCCAGAGACACAGAGAGGCCACTCCCCACCTGGGGCCAGAGACTCAGAGGGGCCACTCACCACCTGGGGCCAGAGACTCAGAGAGACCACTCCCCACTGGGGGCCAGGGGCTCAGAAGGGCCACTCCCCACCTGGGGCCAGAGGCACACAGAGACCACTCTCTACCTGGGACCAGAGGCTCAGAGGGACTGCTCCCCACCTAGGGGCGGCCCCCAGTCAGAGGGGAACTGGGCCAAGCCTAATGAACAGCTCTGTCTCGTAGGAGATAGAAGCACCCCGCTCTCTGTTCCCCTTCTCTCCTGGGGCGTCCCTGGGGCCTGTGTCCTCAGGCAGACAGAAGGGGAGAAAAGGAGAGGGAGAAGTCAGGAACTGCACACAGACAGACCTCCGGGCCCACGTGGTGGAAAAGAGGGAGGTCTGTGTCCATTCCCTCCATCCACACCTCACCTCTGGGTCCAGAGCTCCCTCCAGCTCCCAGCAAAGCTTTCTTCCCAGAGCCCCTACCATCAGCCGTGTG
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ATGATGAACTTGAGGCAGACAAACTCCTGCCGGTCCAGCTGCAGCGCAAGCAGCTGCAGCACCAGCTCCTGCGCCCGCAACACCAGGCTGTGCAGCAGCGAGCCCGCCTGGGTGGCCACTGTGGTCAGCTCCACCTGGGGGCAGAGGGCACGGGGCGGGGGACAGTCAGAGGACGTGGGTCCGGGCAGGTGGCTCTCTGATGGGGGATGCAGGGCTGAGGGCATGGATTGGAGGTGCAGGTCAGATGGGCTGGCGTCAGGAGGGCCCAGCCTTGGTGCCGAGCCAGGCACGGGTAACATCTGCACAGCCCCGGGGACGCTGCCGGGCCCACCCTTCCGAGCTCTCCTCAACCCGCCAAGCCCGGAGCTGAGGCACCCACGTTCTGCCCGCGTCCACCCCTCCTTCACACACAAACCCCAGCACCAGGCCCAGCAGCACCAGCAGCTCAGGGGGCCCCTCTACATGCTGGGAGGGGAGGGGTTGGGGAGGGCAGGCCTGTGTGGGGACACACAGACACATCCACATGGCTTCCCAGAGCCCCCATGTTCACACCTACACGCTGGGTCACAGCTCAGCTCAGAGTCACACACACACACACACGAGCACAGTCATGGGGTCGCCCACTCTGTGAAGTGAAGGCACACACGTGTGCACACGGCCACACCCGCCCTTGTACGCTCACACTCACGGCAACACATACACCCATGTATGTGATCACATTTACGGGTTGATGGGAAGACAGTGACACCCACACACTGATGTGTGTGGAGATTTTGCACAATAAAACACAGGCAGGCACACACACACACACACACAAACAGGCATTCCCATGGCCACAGAGACTCAGCCAGCCTGCGGACACCCACACTTCATGCAGACTGCAGGCACCTGCGCTCACAGGGAGCCCCAAAGACACCCCCCTGGGACCAGTGCTGCCCGTCCCGTCCTCCTGCCCCGATGGCCTGTGACACCGAGGAGAGAGCTGGAGATGAGCAGTGGGGGCCTGGGAGGGCTGGAGCTGGGAGCAGAGTCTGTCTTCCCCACCCCACAGCACCCACCGACCCCACGGCCCTTCCTGTGTCCCCACCTGAGAGTGGCACTCCTGCCAGCAGGCTGGACCCTGGCCATCAACCCCCTTCTCTGCCTCCCCCCCTCCCTCTCTTTCCCTACAGCCCATCTCTCCAGGTGAGTCTTCCTCCGTGGCTGTGCCCCCGTGTCCCCACCCTGGCCCCCCACCTCCCATCCTGACCCCTCCGCCTGCCTCCTCAGATACCACCTGGCCATGTCCCTCCTCCTCCTAAAGCTCTCCCCGGACCCCTGCTGCATCTGGACTTTCTACTCCCCAGATCCTCATTCCCTGCTCTAAGGGGGCCCAAATTCCGACTCTGAGCTCTCTGGAGCCCTTTGCCCATTCATTCATTCATTCATTCATTCGAGATTTAGGGCCTGCAAGGTTTGCCTGCTAAGCCAGCACTAGCAACCCCCTAGCCTCCCTCATCTCTCACCTCATGCCACCCCCACACCGGCACCAGCAGGGCCCGGGGGCTCCACACTTCCACCCTCTCTGAGCCTGCGGTAGACGTGGGGACTGCCCCCCTCATCCCTCATTCCCCAGCCAACTCCAGTGTGTTATTTCCAGACCCAGGGCCACCATCACCTCCTCCTCCATGAGCCTCTCCTCACCATGCCCACACCCCCTGAGCTGCTCCCCAAGAGCAGGGCTCCCAGGGGCCGGCGCCTCTCAAGCCTGGGCCAGGGCTGCTCACAGAGGGTTTGGGCCAGTGGGTGTTCCATGAACGTGGGGAAAGGGCTGATAATTAGGGTGCCCAGAGCCAGCCCCGAGAGGCCTGGGTCCTCCTCTCCGGGGCCCTGAATCCTGGAAGTGCACAGCGGGGCCAGGGCGGGGCCCAGGGGCGGGGCCGAGGGACTGGTCACCTCCTGCCCGGTGACCAGCAGGATGCTGCCCTCCTTGCCGTGCTGGACCTGGCGGTAGATGTGGTCGAACACCAGCAGCTCGCTCCAGCAGTTCTGCAGCAGCGTCATCTGGTTGGCCACCTGGAAGGAAGAGGCACGCGGGGGGCCGGGCTCCAGCCAGGGTCCAGGGACCTTCCTCTCACCCCTTCTCCTCCCACTGAGACCCAACTAGGCGTGCAGCCTGGGCAAGCTAACCTCTCTGTGCCCATCTACCCAGATGTCTAGGCTATCAAAGTGCAACAGAGGTCTGGCCAGTTAACAAAGGGATGTTTGGGGGTTGAATGGGCCAGGCTTCAGGCCCCACCTCTGTCTTTTGTATGACTTTACGTAAGTCCTGGTAACCTTTCTGTGCCTCAGTTTTCTCATCTGTAAAGTGGGCAAAGTACTGAGCGGACAGTCCAGTACATGTTAGGTATGCCATACATGTTAGTGACTAATGTCCATGCAGGTGCTCTGCAAAGGACTCCTACAAATGCCTGGCAAGGTTATTATTAATTTTAACCTTGTCCACATTTAAAAGCCTGTGGTCGGTCACACCTCTGGCAGCCCCAACTGCTCAAACAGGAGCCATGAGGGAGAAACCAAGGGCTTCCCCCCCGGGCCTACGCAGAGCTCTCAGGCTCAGGAGGAGGAGGGAGGTCCCACCTGGCCTGAGGTCAGGCCCAGGGCATGAGCAGGGGGGCGGCAATGGCCTGGCACATGAAGCAGAAACGAACAGCAACAAGGGGCTGATTCCGAATGCCCAGGCTGCGGCCAGAGACACTCGGTGCAGGGGCAGGGCCAGCCCCTGTTTGGAGTGTCCTTTGACTCTGCAGGACTCAGAAGCAGAGCCAGGGATCCCCTGGCCCCAATCCCTATTTTTCAGCTGAGGAATCCGCCACCCGGAAAGGGCAAGAGACTCTCCCGGGATCACACAGAGGCAGGGCCAGGCCAGGGCCACGGCTGGCATTCCCGGTCCACAATCTCCACTGTGACAAAACGAGCCCTTCTGGGTATTTGGAAGCACACTGGGCACTGCAGATGGGCCTGGGCAGACACAGCCCCATCCCTCTCAGCCCGTGCCACTCACCAGCTGGCCACCATCGACCCAAAAGACACTTCTGGCGCACCTTCCTGGGCCGTGCCCTATGGCAAATGCAAACCATGACAGCTGACAGTCATTCCACTGCAGCCCTACAGCCCTGCGAGTTTCGTATAGTCGCCACCCACATGATAGAGAGAAGAAACTGAACAGAGAGGCCACACAGCTCTGTCTAGTTCCAGATTTGCGCTCTTAACCACTAGGTGTGGAAGAGGACCTCTCACTCACCCTCCTTGCCATCCAGGAGTTCCTGGTCTCTCACAGGCTCCTTGCCTCCTCTACAGATCCTCTACCTGATCCCTCTCCTTCCTCGAGGCCCTCTCCACCCTCTGGATGCAGAATCTGCAACATCTCATGGCATCAGTTAAATGCCTCTGTCTTCACCAATACCTGTGAGGTCTGGGGAGGCAGAACTGGTGTTCAGCTCTTCTCTGGGCCCCAGAGCAGTGGTCAGAGGGGCTGATGACTGGCAAGGTGCTCCCCAAGACAAGCACAGAGAGCAGAGGGACCACTGCCCACCTGGGGCCAGAGACACAGAGAGGCCACTCCCCACCTGGGGCCAGAGACTCAGAGGGGCCACTCACCACCTGGGGCCAGAGACTCAGAGAGACCACTCCCCACTGGGGGCCAGGGGCTCAGAAGGGCCACTCCCCACCTGGGGCCAGAGGCACACAGAGACCACTCTCTACCTGGGACCAGAGGCTCAGAGGGACTGCTCCCCACCTAGGGGCGGCCCCCAGTCAGAGGGGAACTGGGCCAAGCCTAATGAACAGCTCTGTCTCGTAGGAGATAGAAGCACCCCGCTCTCTGTTCCCCTTCTCTCCTGGGGCGTCCCTGGGGCCTGTGTCCTCAGGCAGACAGAAGGGGAGAAAAGGAGAGGGAGAAGTCAGGAACTGCACACAGACAGACCTCCGGGCCCACGTGGTGGAAAAGAGGGAGGTCTGTGTCCATTCCCTCCATCCACACCTCACCTCTGGGTCCAGAGCTCCCTCCAGCTCCCAGCAAAGCTTTCTTCCCAGAGCCCCTACCATCAGCCGTGTG
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Task1_train_13134
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The gene NR5A1 (nuclear receptor subfamily 5 group A member 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; ADRENAL INSUFFICIENCY, NR5A1-RELATED
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CTAGAAGAGACGCCGGAGTCACCCACACCCCTCCCACTTTTCTGTCTCCTCACCTCTGGACTTTGCAAAGAGACACCAGCCCAGGGTCCACTGGACCAGTGGAAAAGAACTTCCACATGGCTTACGAGAGGCGCTCTAAGGGCTGGGCTGGTACTTATCTGCAAGGCCCCTTTAGAGAAGCTGGTGACCACTGCTCATAATCCCGGGCTCAATTCAAAGACTTTGAGAAGGGGAAGCAGGAAGGTTTGGACCACGGAGAAGCCAGAAGCAGGAAAAAACACTCAGCAAAGCTGGGACAAAAGCCCTTCCCATCCTGCGTGAAAATCCCCGGGAGACTAGGAAGGCAGCCAGAGGAAGTGCCCTGCCCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACA
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CTAGAAGAGACGCCGGAGTCACCCACACCCCTCCCACTTTTCTGTCTCCTCACCTCTGGACTTTGCAAAGAGACACCAGCCCAGGGTCCACTGGACCAGTGGAAAAGAACTTCCACATGGCTTACGAGAGGCGCTCTAAGGGCTGGGCTGGTACTTATCTGCAAGGCCCCTTTAGAGAAGCTGGTGACCACTGCTCATAATCCCGGGCTCAATTCAAAGACTTTGAGAAGGGGAAGCAGGAAGGTTTGGACCACGGAGAAGCCAGAAGCAGGAAAAAACACTCAGCAAAGCTGGGACAAAAGCCCTTCCCATCCTGCGTGAAAATCCCCGGGAGACTAGGAAGGCAGCCAGAGGAAGTGCCCTGCCCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGAGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACA
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Task1_train_13135
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Given this variant in gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Spermatogenic failure 8
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GCGCTCTAAGGGCTGGGCTGGTACTTATCTGCAAGGCCCCTTTAGAGAAGCTGGTGACCACTGCTCATAATCCCGGGCTCAATTCAAAGACTTTGAGAAGGGGAAGCAGGAAGGTTTGGACCACGGAGAAGCCAGAAGCAGGAAAAAACACTCAGCAAAGCTGGGACAAAAGCCCTTCCCATCCTGCGTGAAAATCCCCGGGAGACTAGGAAGGCAGCCAGAGGAAGTGCCCTGCCCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCA
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GCGCTCTAAGGGCTGGGCTGGTACTTATCTGCAAGGCCCCTTTAGAGAAGCTGGTGACCACTGCTCATAATCCCGGGCTCAATTCAAAGACTTTGAGAAGGGGAAGCAGGAAGGTTTGGACCACGGAGAAGCCAGAAGCAGGAAAAAACACTCAGCAAAGCTGGGACAAAAGCCCTTCCCATCCTGCGTGAAAATCCCCGGGAGACTAGGAAGGCAGCCAGAGGAAGTGCCCTGCCCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCTGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCA
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Task1_train_13136
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A mutation on Chromosome 9 affecting NR5A1 (nuclear receptor subfamily 5 group A member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Spermatogenic failure 8
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TCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCG
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TCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCAGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCG
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Task1_train_13137
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This genomic variant is located on Chromosome 9, within the NR5A1 (nuclear receptor subfamily 5 group A member 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; 46,XY sex reversal 3
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ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGC
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ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCTGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGC
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Task1_train_13138
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Gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; ADRENAL INSUFFICIENCY, NR5A1-RELATED
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ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGC
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ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCTGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGC
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Task1_train_13139
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A variant found in Chromosome 9 affects NR5A1 (nuclear receptor subfamily 5 group A member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; 46,XX sex reversal 4
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ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGC
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ACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCTGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGC
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Task1_train_13140
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This is a variant in NR5A1 (nuclear receptor subfamily 5 group A member 1), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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GGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGC
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GGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCTACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGC
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Task1_train_13141
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This genomic variant is located on Chromosome 9, within the NR5A1 (nuclear receptor subfamily 5 group A member 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; 46,XY sex reversal 3
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ATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTA
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ATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACAGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTA
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Task1_train_13142
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The gene NR5A1 (nuclear receptor subfamily 5 group A member 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; 46,XY disorder of sex development
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ATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTA
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ATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACAGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTA
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Task1_train_13143
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This sequence change occurs on Chromosome 9, altering NR5A1 (nuclear receptor subfamily 5 group A member 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Oligosynaptic infertility
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ATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACGGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTA
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ATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCACCACCATCAATCCTCGACTCCCAGATGGCCCAGGCCCCAGTCCCGCGATGCCCCTAGGGCTCGGAGCACCCACCCCCACCTACCAGCCAGGGCAGGCAGTGCCCCCAGCCCATCCGGCCTCATGCCCCTGGAGGAAGCCCAGGCCCGAGTGGCGTCAGCATTGACAATGCTGCTCAAGGCTGCAGTGGCCCCAGCAGTGGGGGCAACGGGCCCTGCTGTTTACACCCAGCCCCAGAACAGCCAGGGGGTCAGCCTGGGAAAGCTAAACACCAATAGCCCTGGGTGAAAGAGTGCCTGAACCCAGGCCAGGGAGGGGCAGGCCTTGGTCAGCTGGAGGGGCCTCTAGGGAGGTCTCAGAGAGCCAGGGCACTGGAGGGGCAGTTCTGGGGCCTCAGGCTCTTCAAGCCACTAGGTGGGAAGACTGGGAAGTTCTTTCCTATGTCTAGCCTCAGTTTCTCCTGCTGCTTTCCTGATTACTGTAGCATCAGGTACCTCGACCCAGGGGGAAAGAAGGCCATGCCATAGAGGAAGGCTGCCTCGCCAGGGAAGATCAGTGGCAGACCCTGGAATCCCCCACCCACCTACCTATCTAGCTTCCTGAACACCCACACACATGCACATGACCATCCAGCATACGCAAGATTTGCAGAGGCAGGAGGATCTTTCACCTTAGCTGGGAAGGAGAATGGCCCACAAATGCCCCAAACTCTAAAACACTAAGAGCCCCCATCTGTGTGTGACACTGCCAATCCTTGCCAGCCTCCCTGAATGGGAGGACAGGATGGGCCGGACCCCCTTCCCAACACTAGGCTGAAGCCTGGGGAGGCAAGACAGTCTCCCAAGGACTCAGCTAGTCCTTTGAGGGAGCCCAGGGTCTCAGAGAATGAGGGAAATGAGTACTGAGAGAGCCCCAGAATAGGGAACCCCAGAGGCTGAAGGGGTTGCAGAGACACCAAGAAGCAGAGAGACAACATGCAAGGGAGAGACACAGTAGGAAGAGACAGAGGCAGAGATCAAAGCAGCAGTGGCTCCTTGAGCAGAGGCTCAAGGAGGAGAGAAGGAGAGGGAGGGAGCGGGGACCCAGGAGGCTGTGATAAGTGGAAATGCTCCTTAATGTCCCCAGGGTGGCCTCCGGGTCCCCAGGTACTGCCTGAAGCCAGTGGGAAGGATGGCCCTATCCAAAGGACAGTCGGGCTAAGGCTTGGGCAGCCGGGAGGACCATGATGCAGGGCCAGCCGGGCGGGAGGAGAGACTCACCTCCAGCTCCTTGAAGACCATGCACCTGCGTGCCCAGTCCACGATGGAGATGAAGGTCTGGTCGGCCATTCTGCACAGGAGGCCGAAGGCCGCCGGCTGGTCGGGGCGGCTTTTGGTGGGCTCCTGCAGGCAGCCCAAGATGCGGGCCCGCACCTGGTCCTCATCCGGCTCCAGCTGCAGCAGCTGCAGGATGAGCTCAGGCACGTTGGGCCCTCCAGAGAAGGGCTCTGGGTAGCCGTACGGCAGCCCAGGCTGTGGGGGGCTGGCATAAGGCTCCGGGTACTCAGACTTGATGGCACGGCCAGGAAAGGCAGGGTAGAGGTAGCCAGCCAGTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCAGGCCCTTGGGCTCAGGCCCATGCAGGCTGGGAGGCAGCACGTAGTCCGGTGCGGGAGGGGGCGGCGGGGGCACCCCCATCGGGGGCCCTGTCTCCAGCTTGAAGCCATTGGCCCGAATCTGTGCCTTCTTCTGCTGTTTCAGGGCCCGGTCCCGCTTGTACATCGGCCCAAACTTGTTCCGGCCACCCCTCATACAGTCAGCGCGCACGGCTGTGGGCAGGGGCAGAGGGTCAGACTCACCCTCTCTAAGCCCCCTTCCATGCTGCCCCACCACAGATCCTTTCCAAACAAATCTGACCGCTCTCTCCCCTGCTCAACACCCTTTCATGGCTCCCACTGACCACAGGGGAAGTCAGTCTCCTTTGCCTGGCATTCAAGGCCCTGCTCAGCTTTTCAGGCAATCCCTGCTAAGACCCCTCTCCTTCCACTCCACCGAACTCACCTCCACTCCTCTGTTTGACACATCTCCTTCCTCCTCCACCCTGCCTTTCATTTTCCTTCTGACTCAAACTTTTTTTTTTCTCTTGTGCTTGCTGAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTA
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Task1_train_13144
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A sequence alteration has been identified in NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9. Is it disease-inducing or harmless?
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Pathogenic; 46,XY sex reversal 3
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GAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCC
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GAACACCCAGCCTCAATGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGTATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCC
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Task1_train_13145
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The gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Disorder of sexual differentiation
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TGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGG
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TGTCACTACTTCCAGGAAGCACTCCTGGATTCATGCAAACGGGCTCTACTGTCCTTGCCCCAGGTGCCCTGTCCTTGCCCACTCTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGTATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGG
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Task1_train_13146
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Here is a mutation in NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Disorder of sexual differentiation
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TCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGC
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TCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGTCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGC
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Task1_train_13147
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A variant was discovered on Chromosome 9, affecting NR5A1 (nuclear receptor subfamily 5 group A member 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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GCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGG
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GCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCTGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGG
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Task1_train_13148
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Gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Oligosynaptic infertility
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CGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGAC
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CGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACATGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGAC
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Task1_train_13149
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The following genetic variant occurs in NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; 46,XY disorder of sex development
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CGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGAC
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CGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACATGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGAC
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Task1_train_13150
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Gene NR5A1 (nuclear receptor subfamily 5 group A member 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; 46,XY sex reversal 3
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TGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGACCGTGGCCGAGGCTCGGATTCACGGGTGGAAGCCAGATTCTCCC
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TGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACATGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGACCGTGGCCGAGGCTCGGATTCACGGGTGGAAGCCAGATTCTCCC
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Task1_train_13151
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Chromosome 9 houses a mutation in gene NR5A1 (nuclear receptor subfamily 5 group A member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Premature ovarian failure 7
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TGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGACCGTGGCCGAGGCTCGGATTCACGGGTGGAAGCCAGATTCTCCCATGGGGCCCACCACATCTCCTCACTCGAGCCTGTAGCAGC
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TGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCTATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGACCGTGGCCGAGGCTCGGATTCACGGGTGGAAGCCAGATTCTCCCATGGGGCCCACCACATCTCCTCACTCGAGCCTGTAGCAGC
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Task1_train_13152
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Gene NR5A1 (nuclear receptor subfamily 5 group A member 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; 46,XY sex reversal 3
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TGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCCATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGACCGTGGCCGAGGCTCGGATTCACGGGTGGAAGCCAGATTCTCCCATGGGGCCCACCACATCTCCTCACTCGAGCCTGTAGCAGC
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TGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGACCCAACAGGTACATCTCTGCAGCTGGAGTGTGCCCCCCGCCCCTGCTCAGACAGGGCCCCACCCTGGGATCTGGGCGAGGGGAAAGAGCAGGAGAGAGGGGGTGGTGGTGCTCAGCAGGGATGATGGCTGGGGGGCTGCCTGGCCAATCTTCCTGCCCCCTGGGGTGGGCAGCGCTGTGCTGCTCGCAGGCTGCACGGGAGTTTCTACTGCCCACAACAGCCAGCTATCTGGCCCCTTGGGACCTGGCACTAGGGGCATGGGCTCTGGGGACAGGACAGGATGTCCCCTCTCCCATCCAGGAGTCCTTTCTCCAGGTGGCAGGGCATGTGGTCCACCACTCTCAGAGCCACCTGGGGCTTTCTACACTGTTCCAAGACCTTAATCAACCACTGCCTGTTCAGCACACAGTCCAGTGACCGGCCACCTCCAGAAGCTCAAATCTTTCCTGCCAAAACTTACCTCCTCCTCTCTGGGCTGAGAGCTGGGGTTGAGGGTAGGGAGGCAAAGAGGGGCCTGGGTTTCTTGGGGGCAATTCAATTGTCCCCCACTGCCCGGCCCCCTCAGGGCCTGGCTAAGAACATGACGGGAAGGAATCTCACTGGCTGAGCCAATAAACCAGAGAGCCCTTTGGATGGACGGACAGACAAGCAGATGGGCAGCTGAATGTGTGGGGGCTGGGCGGTGGTGGTGGGCAGATCCTAATGGAAAGCGTGATGGGCTTGACAGCTAACCTGCGGCAATGAACGCCTAGGCACCTTCAGCTTGCCTGCACCGATCCCCACACTCACTCACTGGAGGAAGGCGCTGCCGTTAAGCCCATTTTTCTTTTCTTTCTTTCTCTTTCTGCCTTTTCTTTTCTTTCTTTTTTATTTTTATGTACTTATTTTTTGAGACAGGGTTTCCCTCTCGCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGCAGCCTCGACTTTCCAGGCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTAGGACTACAGGCACATGTCACCACGCCCAGCTACTTTTTTATATTTTATAGATACAAGGTTTCTCCATGTTGCCCAGGCTGGTCTTAAACTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAATGCTGGAATTACAGGCATGAGCCGCTCCATCCGGCCAAGCCCATGTTTCACATGGGAAATCTGCGGTTTAGAGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGGCACTGGGACTTGGCCTCTGCTGGCTGGGGTTGGGTATTTTGGGGGCATGGGGACCTCCTCACAGAGGGAGGAGCTCTGCCGACCCTGTGCTGGGGCCCTGGCAGGGGCTGGGGAAAGAGTCATCTCCATAGGGTTCACTTTTGGATACTTCTCAGCCCAACCCAGGCTGGCCTTGCCAGCGTCCCTTCCCCGCCCGAGGCCCACCCAGCGCCAGCGCCCGGTTCTCTTGCAGCGACTGGGCCCTAATGTCGCACGAGGGGCCTTCGCGAAGGCCAATGGTACTATCCCCTCAGCCCCTCTCCCACCCCCACCCCCTACCCCCTCAGGCTGTGGGGGGTCAGGGGTCGAGGCCCGCGCGGCGCGCACCTTCCAGGCGCATCCCCACCGTCAGGCATTTCTGGAAGCGGCAGAAGGGACAGCGCTTGCGCTGCGTCTTGTCGATCTTGCAGCTCTGGCTCTCGGTGCACGTGTAGTGCTTGTTGTTCTGCACCGTGCGCTTGAAGAAGCCCTGCGGGAGCTGAGAGTCAGCGAGGCCCCGCAGCGCCCGTCTGCCGCACCCCTGCCGCGCGCTCGCCGCTCACCTTGCAGCTCTCACACGTGAGCAGTCCGTAGTGGTAGCCGGACACCTTGTCCCCGCACACGGGGCACAGCTCGTCCAGGTCCTCGTCGTACGAATAGTCTATGCCCGCGGCGTCCGCCTGCGGAGGGACAGCGGGTCAGGGAGGGCCGGCGGAGACCGGCAGCCTGGGGTCCCCGCGGCCGCCGCCCCAGCCGCTGTCGCCGGCCCGTCGCGTAATCCCCTCTCTGTGCCCAGGCGCTGCCGCCGGCACCCACCGAGCGCCCCGCGCAGCGTCCCGGGGTGGGTCCGGTGCAGTCCCCGCGCCCGGCCTTCCCCTGCCAGGCCCCACGCTCCCGCCCCGTCCGGGGGGCTCCTCCCGCGCGGACCCCGTCGCGCCCGATCTGGGGCCCTCGGGTTCGATGCGCTTCGATTGGGATTCGTTTGTCTGAGAACAAAACCCCGATTCTGAGAAAAAGAGATGGGCTCAGCCGCGGGGAAGACGCCAGGGGACCCAGGAGCGCTGGGGCGCCCGGCCCGGGTGTTCTGGGAACCCGACAGAGACGAAGGAGGCAGAGACAGAGTCCGGGGGAGCCAGAGATGGGAAGAAACTCTGGCGAGAGACAACGACCGACGCCACCGGGCGCAGACACGAGGCCAGTCCGAGAGTGCCAGAGACACAGACACTGAGACGCCCAGCTAGAGAGAACCCGGCGGGGACGAGACACAGGGAGGGATGGAGAGAGACAGGGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGACGAGAGAGAGAGAGAGAGAGAGAAACGAGGGGTGGGGGATTGGATCAGAGACTCGGAGAGACAGCGGAGGCCCGAAGAGAAAACCCAAGAGAGACTGACGCAGAGCCAGAGACACAACGATAGACGACAGACAGAGACGCCGAGACGAGAGGAGCCCCGGAGAGACGAGGCCGGGGAGCTACAGAAACACGGAGAGAAAACCTGGAGGCGGAAGCGCCCAGCCCGAGGGTCGGGGACAGGGGACGCGCGGAAACCTGCCGGGCAGGAGCCCAAGCGCCAAGGCGAGGCCCCGCAGGGTCGGACCCAGACGGGGGCCCGGGCCGCAGGAGGCGGAAAACGACGGCGCCGGGACCGAGAGCCCGAAAACGCAGAGCCGCCGGGACCCCCTCCCCGGGGGAGACAAAGCCGCAGCAGCGACGGCAACGGGAGGCGCAGCCCGAGCCGCCGCTGCCACCGGGACGTCGGGCGGGGAGACCTCGGGCGGGGGTCGGCGGGCTCCGGGAAGCCGAGCCCGAGGCGAGGGAGCGACCTCGGGCGGAGAGGCGAAGTCCGGAGGAGGGAAGCGCGAAGAGCCAGGGCCCGGGACGCGAGAGGGGGCGCGACGGCGGCTGCGGTCGGCCCGGCGCCCACCTGGTCGCTCCTGCGAGCAGCGCCCCGCGTCCCGCCCGCGCGGAGCCCGCACCTCTCGGCCGCGCCGCCGCCGCCGGCGAGGAGCCGCACCCGGGCGCAGCGCCGCCCGCCCGCGATGACGGCCGCTCGGGCCGGGGACGGGGAGGCGGGGGCGCGGGGCTGGCGGCGCGGGGGCCTCGGCTCCCCCCTCCCGCCTCCCCGCCCCCCATCCTGCCTCCCTGTTCCCCCCCGCACCGCCGCCGGGGCCGCTCCGAGGCGCACCTGGGACCCGGGCCCCTCAGCCGCCACCCCGCCCTGCGCCAACCCGCCGCGCCGGGGCCGGGGGCCGGCCCCTCTATATCGGCGCGTGCGGTATCCGGGGGCGGAGGCCCGGTCGTGTCCTCCCCCCAAGCCCGGCCCGCGCCGGCACCCTCTCCGCAGTCCAGCTCGAGTCTTCGCCCTCATCCTCCAGGCCCCCCAGCCGCAGCCCGGCTCCCCGGACCCCGAGCGCGGCCAGAGAGCTGCGGAGCCCGAGTGCCCCGCGATCTGGGCAGGTATAGGGCAGTGGGGGCCTTGGGTCACCCGCCTGCAGTGGGAGGAGGCAGCTCCTGTCTGTGAACCCAGCTGGGTCGTGGCGAATGCCACGCGGGTGGCTGGTCGCACTACAGCGTGGAAGTGGGTAAGGGCGAGTGGCGACCGTGGCCGAGGCTCGGATTCACGGGTGGAAGCCAGATTCTCCCATGGGGCCCACCACATCTCCTCACTCGAGCCTGTAGCAGC
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Task1_train_13153
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A change on Chromosome 9 affects gene RPL35 (ribosomal protein L35). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Diamond-Blackfan anemia 19
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GAGGATGTCACCAGTCTTGCCCTCCCAGCTCAAACCCTCCACTGGTTCCCATGGCCCATGCCCACAGCAGGCAACCAAGGCTGCCCCCACCTGGCCACAGCCGCCTCTCCAGGCTTCCTTGCACACAGCAGCCCTCAGGCTTTTTGCACGAGGTCCCCCTTTCCTGGACTGTCAAGGCCAGGTAGCCGGCTGCCCTCTGCTGCCTTCTGCAGCTCAGGGCTCTCTCTAGTCCGGCCAGATGCTGCGCCTCTTAGTTGGGCACCGTGACTCCATCCAGAGCAGCGACTTCTCACCCACGGTGAACTGCCTGGTGAGCCTACCCTCTGCCCTGGGCCCCACCTCAGTGGCCCCATACCCACTTGGAGCTGAGTGGTGGGAAGGGGATGGACTCTGGGTCCCGCCTAGATGCAGAGTGGGTGGAGAGCTGGCTGGGCCAGACTCACAGAAGCTGCCTGCAGGCCACCGGCTCCTGGGACTCCACCGTACACATCTGGGACCTGCGGATGGTGACCCCAGCAGTCTCCCACCAGGCGCTAGAGGGACACAGTGCCAACATCAGCTGCCTGTGCTATTCAGCATCCGGCCTCCTGGTAAGTGGGGTGTCCTGGGTTCCAGGCTGGTCCCTTGCTGGCAGCCAGGCCCTTAAGGGTCCCAGGCCACTTAGGGGCCCAGTGAGCTCACAGGCCCCAAACCCTGGGGATCAGAGCTGTCTGCTGTCCAGGCATCCGGCTCCTGGGACAAGACCATCCACATCTGGAAGCCCACAACCAGCAGCCTGCTTATCCAACTGAAGGGCCATGTCACCTGGGTGAAGAGCATAGCCTTCTCTCCCGACGAGCTGTGGCTGGCCAGCGCCGGCTATTCCCGCATGGTAACCACCCCGGGCCCATCCTGCTCCTACCTACCCATCCTCACCCCACCAGGAGCCCTCAGCACTCACTCCAGAAATGCCCACATCCCCACTTGCCCTAGCTAGGAGGGGGCAAGGGCAGGACCTGGGTGCCAGCCTCTCTTCCTAATGGCCAGCACCAAGGTTAGGGCTGGCCCATTGGTAGTTGCATTGACATTTCCATGACCCAAATGGCATCAGGCAAAAGGGAACTCCTGCTCTGAAATTTCAAATACAGCCTCCAAACAAAACCTACACCAAGAGGTTCAGATGTTTTTTGGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGGTAGGTGAATCACCTGAGGTCAGGAGTTCAGGCGAAGACTCATCTCATATTTTGTCTGGGACTTTCCTGGAGGTGGCTTCAGATGCCACAGTGGCCTGGTGAGGCTTCCTGACATGCCCCCCTCCTTTTCCAGGTCAAAGTCTGGGACTGCAACACAGGAAAGTGCCTTGAGACCCTGAAGGTAAGGCACGGCGCTGTGGCACTGAGGAAGCTGTGGACAGCTTCTCCCAAGGCAGGACTTGCCTCGAGCCCCACCTTCTACTCTTAGCAGGGAGTCCTGGATGTGGCCCACACCTGTGCCTTCACCCCAGATGGGAAAATCTTAGTGTCTGGAGCTGCCGATCAGACTAGACGTCAAATATCCCGCACGTCCAAATCACCCAGGGACCCTCAAACCTAACACCAACCACCTTAGATGGTGCCGACCTCACCCGCTCCCCTCAGTGGCGCACAGGCATGCCGCTTCTCCCCACAGACGCAAAGTGACTGTGCTGGCATCCAGCAGATCCCCATGGCCAGGACTCTCCAGGCCCCACCAGAGCAGACAACTGTGGTGGGCAGGACGCTTGCTGGAACCCATCAGACACCTGGTCCCCAAAACCAGACCCACCCACCTCCACCCAATCAGTGGAAGTGCCAGGAAACAAAGCAGTCTCAGCCAGCTGTGCTTTATTGACAATGCGCCCCTCAGGCCTTGACCGCGTACTTCCGCAGCGGGTACAGCCGCTCCTTCCGCTGCTGCTTCTTGGTCTTCAGGTTCTCCTCGTGCTTGTTGAGCCGGCGGCGCATGGCACGTGTCTTCTTAGGCCGCAGGTCCAGGGGCTTGTACTTCTTGCCCTGGGAGACAGACGGCAGGGTGAATCCAAGGACCCAGGGCTGAGGAGCTACTGCAGCAGCTAAGGGGGCTGGGGAGGGCCATCCAGAGCCACTCAGGAGGAGGCTGCCACCATGGGACTGCCAGCAGGCCACACATGTCACTAACTCAATTAATCCCCCCAAATCTAAGGCTGGTGGGACCATCCTCATTTCATGTAAGTCTGCTGACCTACTGGGCTGAGTGTCCAAGTCTTGGCAAAGCTGTGGAAGAGCCGGGGCTTGCATCTCAGTCAAGTGACTCCCAACTCAGTGCTCCTTCCACTGCCCGATTCCCAGTCACGAGGACAGTCACATGACAACCTAGTACAGGGCACGCAGCACCCACCAAGCCCCGGGGGTAGTTACCATTACCTCGGCTCTGGTTAGCAAGAGCATGCTGGGGGCTGAGGCAGTACTCTGTCCATCTGTATGCAGGGCCCACCAGCTGCTGCCTGTATGAACGTCCAGCCTCAGAGGCCTGGCTGGCCAAGGCCACTTGCCCCACCTGCTTCCGGCTTTGGGGCCCCTGCCCACAGCTGTCACAGAGCCATCATCTGTCTTTCCATCCTTGGCTCCCACTCCTGCCCCACTTGTTCTCCAGCAGGGGGTTCTAGACCATGGCAGCTCTCACTGGTCTCTCCTGTGTTCTGCAAAGGTCCCCTGGGCCCCCTTCAGGACTGGGCCCTGTGCTGGGAGCTGGCTTGGCAAAGGATCTGACCCAGTCCCTGCTCAGGGGTCCCAGCCTAGTGGGGGAAGACTGAACAGGTAACAAGTGGCCCATGGTATGGGGGATTCTGAGGTCACAGGGCCCCAGGCCCCTGCAGGTGGGCAGAGGACTGCAGAAAGATCCTGGACAATGAGGGCCAGCCCTGGAGGGTACTTGGAAGCAGGAAAGTCTTTGTCCTCCCACATCCCTCACTCCTGCTGGCATCGGCTGGGCATTCGTCCTTTTCACATTGGCTAACCCCCTAGAGTTCTGCTGTCCAACAGAGCAGCCACTAGCCACACACGTAGCTGCTGACATTAAAGGTTTACTTTTGCCACACACGTGCTAGTGTCCCCTGAACAGCTAACATAGCCACACTATGGCCCTTCTCATTTTTTTGAGATGAGGCCTCACTATGTTGCCCAGGCTACACTTTAACTCCTGGGCTCAAGCCATCCTCCTGCCTCGGCCTCCCAGTAGCTGGGGTTATAGGCCTGTGGCACTTCATCAGCCATGGCTGCTTTTCCCTTGTGTCAAATCTTCAAGTTATTCAAACACAATTTGGGTAGTGATGTGGAACCATTTTGCAGATGAAATTAAAGACCCTCATCAGGTAACTTTAGGGGAGATTATCCTGGGTAATCCCAGAAGGCCCGATCCAATCAGCTGTAAGTCTTAAGCACAGGGCTGAGGCTCCCTCCAAGTACCCACTGGGAACAGCAGCTTCAACCTGAGCCCTGAGTCCCAGCCAGCCCCCACAATCACCTATGCCCATTCTTCAGAATACATTGGATGCATGTGCACACACCGTCTCCCCCTAGTTTTCTCTGCTTGAACCCCAATAAGATGAATGTTAAGGACAAGACCAGAAAATGGTTATCAAAATTCAAGACTAAGAGGGGGCCAGACACCTGTGCACACCTCCCAGAACACTAAAGCCGACCCTCCCCAAGGTAAGGTTTGGAACCAGGGCCCATCATGCCATTGACTGTGGGTGTCTAGGCCTCAGGGCCCTCATCTGAAAAATGAGCATGGCAGGTGCCTGGCAGGGACTGACACCCAGTGCCAGTAAGAGGCAGTGAAAACCTTCAACAGCCAGTCCTATCACTGCCCAAGCCACTCAACTGGGAAGGCTGGTTTCAAAAACTGAGTCTCCAGCCAGGACACCCCAAGCCCCAATGAATTCTTGACATCTGCAGCCTGAGGAAGTGGTCTGCAGAGCCACGTGCCAGTGCAAGACACTGGTAGAAGAGTGAGCCCAGCAACAAATTGGGAAGGCTAACCACTCTCAGCCCACGCACCAAGAAAAACCTCT
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GAGGATGTCACCAGTCTTGCCCTCCCAGCTCAAACCCTCCACTGGTTCCCATGGCCCATGCCCACAGCAGGCAACCAAGGCTGCCCCCACCTGGCCACAGCCGCCTCTCCAGGCTTCCTTGCACACAGCAGCCCTCAGGCTTTTTGCACGAGGTCCCCCTTTCCTGGACTGTCAAGGCCAGGTAGCCGGCTGCCCTCTGCTGCCTTCTGCAGCTCAGGGCTCTCTCTAGTCCGGCCAGATGCTGCGCCTCTTAGTTGGGCACCGTGACTCCATCCAGAGCAGCGACTTCTCACCCACGGTGAACTGCCTGGTGAGCCTACCCTCTGCCCTGGGCCCCACCTCAGTGGCCCCATACCCACTTGGAGCTGAGTGGTGGGAAGGGGATGGACTCTGGGTCCCGCCTAGATGCAGAGTGGGTGGAGAGCTGGCTGGGCCAGACTCACAGAAGCTGCCTGCAGGCCACCGGCTCCTGGGACTCCACCGTACACATCTGGGACCTGCGGATGGTGACCCCAGCAGTCTCCCACCAGGCGCTAGAGGGACACAGTGCCAACATCAGCTGCCTGTGCTATTCAGCATCCGGCCTCCTGGTAAGTGGGGTGTCCTGGGTTCCAGGCTGGTCCCTTGCTGGCAGCCAGGCCCTTAAGGGTCCCAGGCCACTTAGGGGCCCAGTGAGCTCACAGGCCCCAAACCCTGGGGATCAGAGCTGTCTGCTGTCCAGGCATCCGGCTCCTGGGACAAGACCATCCACATCTGGAAGCCCACAACCAGCAGCCTGCTTATCCAACTGAAGGGCCATGTCACCTGGGTGAAGAGCATAGCCTTCTCTCCCGACGAGCTGTGGCTGGCCAGCGCCGGCTATTCCCGCATGGTAACCACCCCGGGCCCATCCTGCTCCTACCTACCCATCCTCACCCCACCAGGAGCCCTCAGCACTCACTCCAGAAATGCCCACATCCCCACTTGCCCTAGCTAGGAGGGGGCAAGGGCAGGACCTGGGTGCCAGCCTCTCTTCCTAATGGCCAGCACCAAGGTTAGGGCTGGCCCATTGGTAGTTGCATTGACATTTCCATGACCCAAATGGCATCAGGCAAAAGGGAACTCCTGCTCTGAAATTTCAAATACAGCCTCCAAACAAAACCTACACCAAGAGGTTCAGATGTTTTTTGGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGGTAGGTGAATCACCTGAGGTCAGGAGTTCAGGCGAAGACTCATCTCATATTTTGTCTGGGACTTTCCTGGAGGTGGCTTCAGATGCCACAGTGGCCTGGTGAGGCTTCCTGACATGCCCCCCTCCTTTTCCAGGTCAAAGTCTGGGACTGCAACACAGGAAAGTGCCTTGAGACCCTGAAGGTAAGGCACGGCGCTGTGGCACTGAGGAAGCTGTGGACAGCTTCTCCCAAGGCAGGACTTGCCTCGAGCCCCACCTTCTACTCTTAGCAGGGAGTCCTGGATGTGGCCCACACCTGTGCCTTCACCCCAGATGGGAAAATCTTAGTGTCTGGAGCTGCCGATCAGACTAGACGTCAAATATCCCGCACGTCCAAATCACCCAGGGACCCTCAAACCTAACACCAACCACCTTAGATGGTGCCGACCTCACCCGCTCCCCTCAGTGGCGCACAGGCATGCCGCTTCTCCCCACAGACGCAAAGTGACTGTGCTGGCATCCAGCAGATCCCCATGGCCAGGACTCTCCAGGCCCCACCAGAGCAGACAACTGTGGTGGGCAGGACGCTTGCTGGAACCCATCAGACACCTGGTCCCCAAAACCAGACCCACCCACCTCCACCCAATCAGTGGAAGTGCCAGGAAACAAAGCAGTCTCAGCCAGCTGTGCTTTATTGACAATGCGCCCCTCAGGCCTTGACCGCGTACTTCCGCAGCGGGTACAGCCGCTCCTTCCGCTGCTGCTTCTTGGTCTTCAGGTTCTCCTCGTGCTTGTTGAGCCGGCGGCGCATGGCACGTGTCTTCTTAGGCCGCAGGTCCAGGGGCTTGTAGTTCTTGCCCTGGGAGACAGACGGCAGGGTGAATCCAAGGACCCAGGGCTGAGGAGCTACTGCAGCAGCTAAGGGGGCTGGGGAGGGCCATCCAGAGCCACTCAGGAGGAGGCTGCCACCATGGGACTGCCAGCAGGCCACACATGTCACTAACTCAATTAATCCCCCCAAATCTAAGGCTGGTGGGACCATCCTCATTTCATGTAAGTCTGCTGACCTACTGGGCTGAGTGTCCAAGTCTTGGCAAAGCTGTGGAAGAGCCGGGGCTTGCATCTCAGTCAAGTGACTCCCAACTCAGTGCTCCTTCCACTGCCCGATTCCCAGTCACGAGGACAGTCACATGACAACCTAGTACAGGGCACGCAGCACCCACCAAGCCCCGGGGGTAGTTACCATTACCTCGGCTCTGGTTAGCAAGAGCATGCTGGGGGCTGAGGCAGTACTCTGTCCATCTGTATGCAGGGCCCACCAGCTGCTGCCTGTATGAACGTCCAGCCTCAGAGGCCTGGCTGGCCAAGGCCACTTGCCCCACCTGCTTCCGGCTTTGGGGCCCCTGCCCACAGCTGTCACAGAGCCATCATCTGTCTTTCCATCCTTGGCTCCCACTCCTGCCCCACTTGTTCTCCAGCAGGGGGTTCTAGACCATGGCAGCTCTCACTGGTCTCTCCTGTGTTCTGCAAAGGTCCCCTGGGCCCCCTTCAGGACTGGGCCCTGTGCTGGGAGCTGGCTTGGCAAAGGATCTGACCCAGTCCCTGCTCAGGGGTCCCAGCCTAGTGGGGGAAGACTGAACAGGTAACAAGTGGCCCATGGTATGGGGGATTCTGAGGTCACAGGGCCCCAGGCCCCTGCAGGTGGGCAGAGGACTGCAGAAAGATCCTGGACAATGAGGGCCAGCCCTGGAGGGTACTTGGAAGCAGGAAAGTCTTTGTCCTCCCACATCCCTCACTCCTGCTGGCATCGGCTGGGCATTCGTCCTTTTCACATTGGCTAACCCCCTAGAGTTCTGCTGTCCAACAGAGCAGCCACTAGCCACACACGTAGCTGCTGACATTAAAGGTTTACTTTTGCCACACACGTGCTAGTGTCCCCTGAACAGCTAACATAGCCACACTATGGCCCTTCTCATTTTTTTGAGATGAGGCCTCACTATGTTGCCCAGGCTACACTTTAACTCCTGGGCTCAAGCCATCCTCCTGCCTCGGCCTCCCAGTAGCTGGGGTTATAGGCCTGTGGCACTTCATCAGCCATGGCTGCTTTTCCCTTGTGTCAAATCTTCAAGTTATTCAAACACAATTTGGGTAGTGATGTGGAACCATTTTGCAGATGAAATTAAAGACCCTCATCAGGTAACTTTAGGGGAGATTATCCTGGGTAATCCCAGAAGGCCCGATCCAATCAGCTGTAAGTCTTAAGCACAGGGCTGAGGCTCCCTCCAAGTACCCACTGGGAACAGCAGCTTCAACCTGAGCCCTGAGTCCCAGCCAGCCCCCACAATCACCTATGCCCATTCTTCAGAATACATTGGATGCATGTGCACACACCGTCTCCCCCTAGTTTTCTCTGCTTGAACCCCAATAAGATGAATGTTAAGGACAAGACCAGAAAATGGTTATCAAAATTCAAGACTAAGAGGGGGCCAGACACCTGTGCACACCTCCCAGAACACTAAAGCCGACCCTCCCCAAGGTAAGGTTTGGAACCAGGGCCCATCATGCCATTGACTGTGGGTGTCTAGGCCTCAGGGCCCTCATCTGAAAAATGAGCATGGCAGGTGCCTGGCAGGGACTGACACCCAGTGCCAGTAAGAGGCAGTGAAAACCTTCAACAGCCAGTCCTATCACTGCCCAAGCCACTCAACTGGGAAGGCTGGTTTCAAAAACTGAGTCTCCAGCCAGGACACCCCAAGCCCCAATGAATTCTTGACATCTGCAGCCTGAGGAAGTGGTCTGCAGAGCCACGTGCCAGTGCAAGACACTGGTAGAAGAGTGAGCCCAGCAACAAATTGGGAAGGCTAACCACTCTCAGCCCACGCACCAAGAAAAACCTCT
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Task1_train_13154
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This alteration occurs within gene LMX1B (LIM homeobox transcription factor 1 beta) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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GCCGGCCCTCTCCGCGGACCAAGCGGCCCCGAGCAGGCGCCGCCGCCCGGGGGACTCCGACTCAGCCCCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCC
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GCCGGCCCTCTCCGCGGACCAAGCGGCCCCGAGCAGGCGCCGCCGCCCGGGGGACTCCGACTCAGCCCCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCCGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCC
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Task1_train_13155
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This alteration occurs within gene LMX1B (LIM homeobox transcription factor 1 beta) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; Nail-patella syndrome
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CCGGCCCTCTCCGCGGACCAAGCGGCCCCGAGCAGGCGCCGCCGCCCGGGGGACTCCGACTCAGCCCCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCCC
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CCGGCCCTCTCCGCGGACCAAGCGGCCCCGAGCAGGCGCCGCCGCCCGGGGGACTCCGACTCAGCCCCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTTCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCCC
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Task1_train_13156
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The following genetic variant occurs in LMX1B (LIM homeobox transcription factor 1 beta) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not provided
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CCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCCCCATAATTATTTACGGAGCTTCTCTTTAAAAAAAAAAAGGAAAGGATAACCCCTGGTTCTTCAGGCA
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CCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGACGGCACTATTTGACGTGGAGCCGGCGGCGCATCCCGGCGCAGGGATACCGGCCGCGGGGTTCAAATGTCAGGAAGTTTCGGGAGGTGAGGCGGCCCGTATCCCTCCGCCGCCAGCCCCAGCTCTAAACCCGGCGGCTCAGCGGGCGCACCATGGCACTGGAGTAGCGCGGGGAGCGCGCCCGGAGCCCCGCGGCCCGCTGCGCCCCGCCCGGGACCCCGCTGCGCCGCGCGCCCCCCCCGCGGCCCGCGGGGCCGCCCCTGCACCCCCACCCCCTCCCCCGCCTGCCGCCGCCGCCACCGCCACCGCCGCCGCCGCCTCCTCCCCGCGGCTCCGTCTGCAGCAGCCGCCGCCGCCGGGTTCCGGGACTGACAAGCAGGTGACAGAGGAGCCGGCGCGCGTGGCTGCAAGTGTCCGGGAGAGCGCGGCGCGGGCTGCAGCCGCCCCGGCCCGCCCGCACGACGCCGGGGCCCGGGGCCAGCGCGTCGCCGCTCCACGATCGCCGGGGGCCGGCGCAACCCCTGCCCTGCGGGGGCCGCGCCTCCCCGGTTCCAGGGCCGCGGCGGCGGAGAGCGGGTGGACGGGCCGGCGGGCGAGCAGCCCGGCCGGCGGGGTCCGCAGCGCGCCCCGCGTCCCATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGTGAGTGCGGGGTCGGAACGCCCGAGTGGTCTCGGGCGTGGGATGGGGCGTCGTCCGGCTGTGGACACGGGCGTTGGGGCCAACGGATAAAGGAAATGGGTTTGCAGGACATGGGGAGGAGGCAGAGACAGGACTCCTGGAGTGATCGCCAGAGGGCCGCAAGTACGCCTCCGGCAGGCGTCCTGAGGGGACAGGACAGCTCCAGTCGCCACCCACCATCCTTTCCAGGCTTAGGTTCTAGAGCTGCCACTCCGATGTGGTAGGTGGCGGGTGGCAGGGGTGATGGAGGACCTAGCAATCACCTTGGCGAGCTTGGGAGAGGCGCAAGGTCACCTGGGGTGGGGGAGATTCTAAGAGAAAAACGTCTCCCTGGTCACTCAAACCACAGATTTTGGGGAGATCGGGGATAGAAGACCACGAACGCCACCGTGGGGCGTGTCAGCCAGCGAGCGCCCCAGCCTCACCTCGCCTGTCTTGGTCCCAGCCGGCCACCCTGCGCCGTGCTCGTTGTCATTTGTCTTAACACGGAGCGCGGATTCTCCGGAGAAGGGGAGAGCACAGCGCCGAGCCAAGGCTCGAGGCCCGCGGCCTCTCCACGCCGGAGCCCGAGGACTGGGACGGACTAGCCGGGGCCGCCCGGCCCCTGGCGCGGCGGTCCGGGGAGCGCAGGCGGCAGGCGGTGATCCCGGGCGGCCCGAGCCCTCGGGGCCGAGGGCTGTGGGCCCGGTGCGACCGGGACGCCGGGGCTGGGCCGGGCGGCGCTGACGGCCGGGCTTTCGCCCTGTGCGCTACAGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGTTGGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAAGACTACCAACAGTAAGCGCTTCTCGTCCTCCTTCCCCGCCACCGCCCGGCACTCGAGCCCGGTCAGCCCCCTGCCGGGCCCGGCCCGCGCCCGCTCTGCCGCCGGCTCTGTGCGCGGCTGGGCCGGGCAGCTCCAAGGGTTCCGAGAGCTGCGCGTCTTGGGGCTGGGGCGGACCAGCCCAGCCCAGCGGGCACTGATGGGGTCCTGGGAGCCTCCGGACGGCCCCCAGTTGCCATCCGTTGTCCCGGAATCCTGCGCTGGGCCGGCCGAGGGATTTGGTGCCTGGGTCCTGGGATATAGGGTCTGGCGCTACGGAGGCCTGAATTGGGAACCCAAAATTGATTTCCAAAGGAAAATAATGTTTTAGGGAGCCAGGCCTGGCGGACTGCTTCAAGGGCCTGGTGTGTGGGGGTTTGGGATTCCTGGAGCCTGGAGCCAGGAGCCAGGAGGTGGAGTGCTGGGACACTGAACGGCCTGAGCGGCAAGGGAGGCCCCCTTTCTGCCAGGCTCACTGCTGCACTTTTAGTCCCTGATGGAGAGAAAAGAATGTCCATATTCCCCAAACCGTTCCATGCGGGAATTTTGCACTTGCAGTTTTCTTTGGTTGGAGAAGCACTCTAGGAAGAGGATCTCAAAAGGTGGCAAGTTACAATTTGGGGCTCCCAATGGGAGTGAGGAGCTGACTGAGTCAGCCCTTCCCACAAGGCCTCCTTTCTGGTAGTGTGTATTGAGGAGGGAGATGGCCCGCTCTGCCCTGGTATAACCCAAACCTCAGGGCTGAGGCCAGAGATGTGGGTTGAGCCCTTCTTGCTAACTAGTTTTTAGCTGAGACTGGATTTGTATGGCCGGGGTTGGGGACAGACAACAGGACATGCAGGCTTTTTCTTTTGACCTCCTGGGTTTTCTGCCTGGCACTGCAATTGGGAGGGAGGCAGTGAGGAGCCACAACTGAAAGAGGGGTGTGGAGATCCCCAAAGCTCTGTTGCAGACACAGCGGGTGCCTGCGAAAACTTTAGTGATGCCAGAAAACCGTCCTGGATGAGGCTGCAGAGCGGGTAGGCTGCTTAGGTGGTTTGGTGCTCAGAGAGGGCTGTGTATGCCCAAGCCTCCAGGGAAGGAAAAGCTGGGCTGCCGGCGCCTCGTGGTGAGTGCAACCTACCTGTTCTGCCCAGGGATTGTCCCCAGTCCAGGGCCTAGTGGAAAGCAGCGCAGCCCAACTGTTTAACTGAGGCCTGGAAACAGTGCAGGCCAGAGCCCTAGAGAGGGCATCGGATTCTACCCCAAAAGGCTCTGGCTGTGCCTGGTGGTCTGGGGGCTGAGCCTGAGCTGCTTTTTGCACCTAGCTCTTTCTTCCGGCTGAGGGATCTTTGGGTAGGGATTGGAGTCCATTCAGAGGTTCAGCTGTTTTGCTGGTCCCAGAGTGCAGCTGAGGCCTTCCTCTCAGTAGGAAGCACCCCAGATTTAGGCACACTGCCGTAGGTCGGCTTTGTGCTGTGCTCTGAACTAATATGATTCTAGTTCCGGGAGAGGGAGACGCCAGTCCGTTCAGTCACAGCCCAAGCATAGAGCAGCACAAATTGAATGGGGAAAATAGTTTGGGGTAGATGTGGCTGTGGGCTCTGGGCTGGCTAGAGGAGCCCCTCTGTAGGGTGCACCAGCCTCTAGCCCCCTCCCCACCACGCCCTGCACCCCTGGCCTCACTCTGCTTGCCTGATCCCGAGCTCTGGCAGTGCCACTTACACCCAGCTCAGCCACCAGCCTTTACGACAACACATGGGGGAAGGGGGCCCAGGAAACTAAAACCGGCCTCCAAATCATTTGCACAGCTTAAAAAAAAGAAAAAAACTTGTTAATATATTGAAAAGACTTATGAATCGCGTGTACATATTCTGCCCTCCCCCCACTCCCCATAATTATTTACGGAGCTTCTCTTTAAAAAAAAAAAGGAAAGGATAACCCCTGGTTCTTCAGGCA
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Task1_train_13157
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Given a variant located on Chromosome 9 and affecting LMX1B (LIM homeobox transcription factor 1 beta), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Nail-patella syndrome
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CAGGCCTTTACTCACCTACTCTGTAAACACTCACGGAGGCCCCCTTGAGGATCAGATGGGGCCAGGTCCTGTCTCATGGAACCCTGGTAGAGGTGGTAGAGTTGGGCACCAACAGGGACATGCATTGTCATTCTGCTGTGATACCCGTGTACTGAGTTACATGCTCAGCATCCTCGAATCCTGACAACAGCCTTCAGGAAGGGCTTGACATCTCCATTTTACAGGAGTAAACTGAGGTGGGGGACGCTGAGGGGAGCATAGAGGAGGCTACCTCCCCCAGACTGGGGCATCAGAGAAGGCTTCCCAGAGGAGGTGGCATTGGAGTTGGGCATTGCAGGATGAGTAGGAGCCTGCTGGGTAGAATAGAGGTGGGTGGCAGGGGTTGCTGGGGGTGCCCCCTGCTGAGTGCTCTGGCCAGTGCCCAGGCAGCATGCAGAGCTCCAAGTGGCCCTGCCCACTTCGCCCCACCAGCTCGCCGTGGGCGGTTCTGACGGCAGCTCCAGGAAGGGAGGCAGGCGAGTGCCTCCCATTTATGGCCATTTCTGTTCCAGAACCGATTAGTAGAGAATTGCAGCTGTAATCTGTGCCCGTGATGGTGGGCCATAAAGAGGGATGGGATGTGCACAGCGCTCCCAAGGTGGCGCCCGCAGACATGGCCCGGGGACGCCGGGAATGAAAAATGGTTTTAATTCCCTCCCAGCAGCAATAATTTGATTCTTCATAAATTTTTCCATCAAAGTGTTGTTGAGCTGAGTTCCCACAGAGCAGGACACGTGACAGGGTGGGGGAGTGTCGGGAGGAGCGGTCAGCAGACACAGCAGAGGAGGGGCCGTGCTGCCCAGCCCTCCTGCTAGTGCTGACCAGGGCCCGGAGACCACCTCTCCCGGCCCTCGTTTGTCTGCAGAGATGATGGGAGATGGGAGATGGAATCACGTTGTCATGTGGAAGCTGGATTAGGCCCAGCCTGGGAGTTGCCTCCAGCATTTACTACCCATGCGACCCTGAGCAAGCAACTCTGCCTCTTAGCACCTCAATTTCCTCATCTCTAAAATGGGGTTAATGTTCATTCTTTTCTTGCAGGGTTGTTGCAAGGATTAAATGCGTCTCTGCATATAAGATGCTTAGAGCAGGGCTGGCACTCTATACGTGCTCAGTGAATATCTGTTCGTGATGGAGATGCGTAAGCTGAGACGGAGGGATGGGAAGGTGTTAGCCAAGCCAAAGGACAGAGAAAGATGGGTCGAAAGATGGCTGCCATGATAGTGCTCTGGAGAAACTGCAGGCTGTTCTTTGGGGCTGCAGCCTGGGGAAGCAGAGGGTAGAAAGGGAAGAGGCGGGATCATGAAGGGCCTTGAGTGCCAGCCTCAGGAGCTCGGATGGTCTCCTAAGGGCACTAGGGAGCCATGGAAGAGTCTGGAGCAGGGAAGCAGCTTGATCCGATTTGTATTTTAGAAAGATCCCCCTGGCTCCTGTGTGTGTGACGGTTCCTGTGTGGGCTGGGGTTTGAAGGATTGAAGGGGCCAGGAGCCCAGAGAGGGGACCAGGCAGTTGCTCGGGCAGGAGAGGAGGGGCCCAGGCTGGGCAGTGGGTTGGGCAGGGCTGGGAATTGCTTGGATGTGTTGGTGAGGGAGGATCAGAGGAGAGGCAGACCAGGGAGCTGAGGTAGAAAGGATCCTTTCCAGCCAGGGGCTGACCTGGCCCCCAAGGAAAGTTTGAGTGGACCCTCCACACTGCCCTCTTGTGGCCACCGTGTCTCTGAGCTGGAAGGGCCCTGAGCTGCCACGCCCGGGACAGGTGACTCTAGGCAGGATGCCAGCACCCACCCCAGGGCCACTGGGGGCCTGTAGGCAGAAGAATAGGGCTGCAGGGCCCTTCTGCTGTCTGACCTGGTGCCCAAGGAGGGCCTCTCCCTCCCACCTGGGCCTGAGGGTCAGGGTGGCAAGAGGGAGAGGCCCTCGGCAGGAGTGGCCTCTGGGAGGGACTTCTGAGCACCGCCAACACGCCCGCTTTGTGCATCCGCAGGCTCTTCGCGGCCAAGTGCAGCGGCTGCATGGAGAAGATCGCCCCCACCGAGTTCGTGATGCGGGCGCTGGAGTGCGTGTACCACCTGGGCTGCTTCTGCTGCTGCGTGTGTGAACGGCAGCTACGCAAGGGCGACGAATTCGTGCTCAAGGAGGGCCAGCTGCTGTGCAAGGGTGACTACGAGAAGGAGAAGGACCTGCTCAGCTCCGTGAGCCCCGACGAGTCCGACTCCGGTGAGGCCTGGCCTGAGCTGGGGGCAGGCCTCAGGGACGGGGGTTGCTGGGGTGTCCTGGAGGGGAGTCCCGGCTGGAGAAGCCACCTCCTGCTTCCAGGACCTGAGCTGCACACAGATGGTACATGCATATCCAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGT
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CAGGCCTTTACTCACCTACTCTGTAAACACTCACGGAGGCCCCCTTGAGGATCAGATGGGGCCAGGTCCTGTCTCATGGAACCCTGGTAGAGGTGGTAGAGTTGGGCACCAACAGGGACATGCATTGTCATTCTGCTGTGATACCCGTGTACTGAGTTACATGCTCAGCATCCTCGAATCCTGACAACAGCCTTCAGGAAGGGCTTGACATCTCCATTTTACAGGAGTAAACTGAGGTGGGGGACGCTGAGGGGAGCATAGAGGAGGCTACCTCCCCCAGACTGGGGCATCAGAGAAGGCTTCCCAGAGGAGGTGGCATTGGAGTTGGGCATTGCAGGATGAGTAGGAGCCTGCTGGGTAGAATAGAGGTGGGTGGCAGGGGTTGCTGGGGGTGCCCCCTGCTGAGTGCTCTGGCCAGTGCCCAGGCAGCATGCAGAGCTCCAAGTGGCCCTGCCCACTTCGCCCCACCAGCTCGCCGTGGGCGGTTCTGACGGCAGCTCCAGGAAGGGAGGCAGGCGAGTGCCTCCCATTTATGGCCATTTCTGTTCCAGAACCGATTAGTAGAGAATTGCAGCTGTAATCTGTGCCCGTGATGGTGGGCCATAAAGAGGGATGGGATGTGCACAGCGCTCCCAAGGTGGCGCCCGCAGACATGGCCCGGGGACGCCGGGAATGAAAAATGGTTTTAATTCCCTCCCAGCAGCAATAATTTGATTCTTCATAAATTTTTCCATCAAAGTGTTGTTGAGCTGAGTTCCCACAGAGCAGGACACGTGACAGGGTGGGGGAGTGTCGGGAGGAGCGGTCAGCAGACACAGCAGAGGAGGGGCCGTGCTGCCCAGCCCTCCTGCTAGTGCTGACCAGGGCCCGGAGACCACCTCTCCCGGCCCTCGTTTGTCTGCAGAGATGATGGGAGATGGGAGATGGAATCACGTTGTCATGTGGAAGCTGGATTAGGCCCAGCCTGGGAGTTGCCTCCAGCATTTACTACCCATGCGACCCTGAGCAAGCAACTCTGCCTCTTAGCACCTCAATTTCCTCATCTCTAAAATGGGGTTAATGTTCATTCTTTTCTTGCAGGGTTGTTGCAAGGATTAAATGCGTCTCTGCATATAAGATGCTTAGAGCAGGGCTGGCACTCTATACGTGCTCAGTGAATATCTGTTCGTGATGGAGATGCGTAAGCTGAGACGGAGGGATGGGAAGGTGTTAGCCAAGCCAAAGGACAGAGAAAGATGGGTCGAAAGATGGCTGCCATGATAGTGCTCTGGAGAAACTGCAGGCTGTTCTTTGGGGCTGCAGCCTGGGGAAGCAGAGGGTAGAAAGGGAAGAGGCGGGATCATGAAGGGCCTTGAGTGCCAGCCTCAGGAGCTCGGATGGTCTCCTAAGGGCACTAGGGAGCCATGGAAGAGTCTGGAGCAGGGAAGCAGCTTGATCCGATTTGTATTTTAGAAAGATCCCCCTGGCTCCTGTGTGTGTGACGGTTCCTGTGTGGGCTGGGGTTTGAAGGATTGAAGGGGCCAGGAGCCCAGAGAGGGGACCAGGCAGTTGCTCGGGCAGGAGAGGAGGGGCCCAGGCTGGGCAGTGGGTTGGGCAGGGCTGGGAATTGCTTGGATGTGTTGGTGAGGGAGGATCAGAGGAGAGGCAGACCAGGGAGCTGAGGTAGAAAGGATCCTTTCCAGCCAGGGGCTGACCTGGCCCCCAAGGAAAGTTTGAGTGGACCCTCCACACTGCCCTCTTGTGGCCACCGTGTCTCTGAGCTGGAAGGGCCCTGAGCTGCCACGCCCGGGACAGGTGACTCTAGGCAGGATGCCAGCACCCACCCCAGGGCCACTGGGGGCCTGTAGGCAGAAGAATAGGGCTGCAGGGCCCTTCTGCTGTCTGACCTGGTGCCCAAGGAGGGCCTCTCCCTCCCACCTGGGCCTGAGGGTCAGGGTGGCAAGAGGGAGAGGCCCTCGGCAGGAGTGGCCTCTGGGAGGGACTTCTGAGCACCGCCAACACGCCCGCTTTGTGCATCCGCAGGCTCTTCGCGGCCAAGTGCAGCGGCTTCATGGAGAAGATCGCCCCCACCGAGTTCGTGATGCGGGCGCTGGAGTGCGTGTACCACCTGGGCTGCTTCTGCTGCTGCGTGTGTGAACGGCAGCTACGCAAGGGCGACGAATTCGTGCTCAAGGAGGGCCAGCTGCTGTGCAAGGGTGACTACGAGAAGGAGAAGGACCTGCTCAGCTCCGTGAGCCCCGACGAGTCCGACTCCGGTGAGGCCTGGCCTGAGCTGGGGGCAGGCCTCAGGGACGGGGGTTGCTGGGGTGTCCTGGAGGGGAGTCCCGGCTGGAGAAGCCACCTCCTGCTTCCAGGACCTGAGCTGCACACAGATGGTACATGCATATCCAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGT
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Task1_train_13158
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This sequence change occurs on Chromosome 9, altering LMX1B (LIM homeobox transcription factor 1 beta). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; not provided
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TCCTGTCTCATGGAACCCTGGTAGAGGTGGTAGAGTTGGGCACCAACAGGGACATGCATTGTCATTCTGCTGTGATACCCGTGTACTGAGTTACATGCTCAGCATCCTCGAATCCTGACAACAGCCTTCAGGAAGGGCTTGACATCTCCATTTTACAGGAGTAAACTGAGGTGGGGGACGCTGAGGGGAGCATAGAGGAGGCTACCTCCCCCAGACTGGGGCATCAGAGAAGGCTTCCCAGAGGAGGTGGCATTGGAGTTGGGCATTGCAGGATGAGTAGGAGCCTGCTGGGTAGAATAGAGGTGGGTGGCAGGGGTTGCTGGGGGTGCCCCCTGCTGAGTGCTCTGGCCAGTGCCCAGGCAGCATGCAGAGCTCCAAGTGGCCCTGCCCACTTCGCCCCACCAGCTCGCCGTGGGCGGTTCTGACGGCAGCTCCAGGAAGGGAGGCAGGCGAGTGCCTCCCATTTATGGCCATTTCTGTTCCAGAACCGATTAGTAGAGAATTGCAGCTGTAATCTGTGCCCGTGATGGTGGGCCATAAAGAGGGATGGGATGTGCACAGCGCTCCCAAGGTGGCGCCCGCAGACATGGCCCGGGGACGCCGGGAATGAAAAATGGTTTTAATTCCCTCCCAGCAGCAATAATTTGATTCTTCATAAATTTTTCCATCAAAGTGTTGTTGAGCTGAGTTCCCACAGAGCAGGACACGTGACAGGGTGGGGGAGTGTCGGGAGGAGCGGTCAGCAGACACAGCAGAGGAGGGGCCGTGCTGCCCAGCCCTCCTGCTAGTGCTGACCAGGGCCCGGAGACCACCTCTCCCGGCCCTCGTTTGTCTGCAGAGATGATGGGAGATGGGAGATGGAATCACGTTGTCATGTGGAAGCTGGATTAGGCCCAGCCTGGGAGTTGCCTCCAGCATTTACTACCCATGCGACCCTGAGCAAGCAACTCTGCCTCTTAGCACCTCAATTTCCTCATCTCTAAAATGGGGTTAATGTTCATTCTTTTCTTGCAGGGTTGTTGCAAGGATTAAATGCGTCTCTGCATATAAGATGCTTAGAGCAGGGCTGGCACTCTATACGTGCTCAGTGAATATCTGTTCGTGATGGAGATGCGTAAGCTGAGACGGAGGGATGGGAAGGTGTTAGCCAAGCCAAAGGACAGAGAAAGATGGGTCGAAAGATGGCTGCCATGATAGTGCTCTGGAGAAACTGCAGGCTGTTCTTTGGGGCTGCAGCCTGGGGAAGCAGAGGGTAGAAAGGGAAGAGGCGGGATCATGAAGGGCCTTGAGTGCCAGCCTCAGGAGCTCGGATGGTCTCCTAAGGGCACTAGGGAGCCATGGAAGAGTCTGGAGCAGGGAAGCAGCTTGATCCGATTTGTATTTTAGAAAGATCCCCCTGGCTCCTGTGTGTGTGACGGTTCCTGTGTGGGCTGGGGTTTGAAGGATTGAAGGGGCCAGGAGCCCAGAGAGGGGACCAGGCAGTTGCTCGGGCAGGAGAGGAGGGGCCCAGGCTGGGCAGTGGGTTGGGCAGGGCTGGGAATTGCTTGGATGTGTTGGTGAGGGAGGATCAGAGGAGAGGCAGACCAGGGAGCTGAGGTAGAAAGGATCCTTTCCAGCCAGGGGCTGACCTGGCCCCCAAGGAAAGTTTGAGTGGACCCTCCACACTGCCCTCTTGTGGCCACCGTGTCTCTGAGCTGGAAGGGCCCTGAGCTGCCACGCCCGGGACAGGTGACTCTAGGCAGGATGCCAGCACCCACCCCAGGGCCACTGGGGGCCTGTAGGCAGAAGAATAGGGCTGCAGGGCCCTTCTGCTGTCTGACCTGGTGCCCAAGGAGGGCCTCTCCCTCCCACCTGGGCCTGAGGGTCAGGGTGGCAAGAGGGAGAGGCCCTCGGCAGGAGTGGCCTCTGGGAGGGACTTCTGAGCACCGCCAACACGCCCGCTTTGTGCATCCGCAGGCTCTTCGCGGCCAAGTGCAGCGGCTGCATGGAGAAGATCGCCCCCACCGAGTTCGTGATGCGGGCGCTGGAGTGCGTGTACCACCTGGGCTGCTTCTGCTGCTGCGTGTGTGAACGGCAGCTACGCAAGGGCGACGAATTCGTGCTCAAGGAGGGCCAGCTGCTGTGCAAGGGTGACTACGAGAAGGAGAAGGACCTGCTCAGCTCCGTGAGCCCCGACGAGTCCGACTCCGGTGAGGCCTGGCCTGAGCTGGGGGCAGGCCTCAGGGACGGGGGTTGCTGGGGTGTCCTGGAGGGGAGTCCCGGCTGGAGAAGCCACCTCCTGCTTCCAGGACCTGAGCTGCACACAGATGGTACATGCATATCCAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTG
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TCCTGTCTCATGGAACCCTGGTAGAGGTGGTAGAGTTGGGCACCAACAGGGACATGCATTGTCATTCTGCTGTGATACCCGTGTACTGAGTTACATGCTCAGCATCCTCGAATCCTGACAACAGCCTTCAGGAAGGGCTTGACATCTCCATTTTACAGGAGTAAACTGAGGTGGGGGACGCTGAGGGGAGCATAGAGGAGGCTACCTCCCCCAGACTGGGGCATCAGAGAAGGCTTCCCAGAGGAGGTGGCATTGGAGTTGGGCATTGCAGGATGAGTAGGAGCCTGCTGGGTAGAATAGAGGTGGGTGGCAGGGGTTGCTGGGGGTGCCCCCTGCTGAGTGCTCTGGCCAGTGCCCAGGCAGCATGCAGAGCTCCAAGTGGCCCTGCCCACTTCGCCCCACCAGCTCGCCGTGGGCGGTTCTGACGGCAGCTCCAGGAAGGGAGGCAGGCGAGTGCCTCCCATTTATGGCCATTTCTGTTCCAGAACCGATTAGTAGAGAATTGCAGCTGTAATCTGTGCCCGTGATGGTGGGCCATAAAGAGGGATGGGATGTGCACAGCGCTCCCAAGGTGGCGCCCGCAGACATGGCCCGGGGACGCCGGGAATGAAAAATGGTTTTAATTCCCTCCCAGCAGCAATAATTTGATTCTTCATAAATTTTTCCATCAAAGTGTTGTTGAGCTGAGTTCCCACAGAGCAGGACACGTGACAGGGTGGGGGAGTGTCGGGAGGAGCGGTCAGCAGACACAGCAGAGGAGGGGCCGTGCTGCCCAGCCCTCCTGCTAGTGCTGACCAGGGCCCGGAGACCACCTCTCCCGGCCCTCGTTTGTCTGCAGAGATGATGGGAGATGGGAGATGGAATCACGTTGTCATGTGGAAGCTGGATTAGGCCCAGCCTGGGAGTTGCCTCCAGCATTTACTACCCATGCGACCCTGAGCAAGCAACTCTGCCTCTTAGCACCTCAATTTCCTCATCTCTAAAATGGGGTTAATGTTCATTCTTTTCTTGCAGGGTTGTTGCAAGGATTAAATGCGTCTCTGCATATAAGATGCTTAGAGCAGGGCTGGCACTCTATACGTGCTCAGTGAATATCTGTTCGTGATGGAGATGCGTAAGCTGAGACGGAGGGATGGGAAGGTGTTAGCCAAGCCAAAGGACAGAGAAAGATGGGTCGAAAGATGGCTGCCATGATAGTGCTCTGGAGAAACTGCAGGCTGTTCTTTGGGGCTGCAGCCTGGGGAAGCAGAGGGTAGAAAGGGAAGAGGCGGGATCATGAAGGGCCTTGAGTGCCAGCCTCAGGAGCTCGGATGGTCTCCTAAGGGCACTAGGGAGCCATGGAAGAGTCTGGAGCAGGGAAGCAGCTTGATCCGATTTGTATTTTAGAAAGATCCCCCTGGCTCCTGTGTGTGTGACGGTTCCTGTGTGGGCTGGGGTTTGAAGGATTGAAGGGGCCAGGAGCCCAGAGAGGGGACCAGGCAGTTGCTCGGGCAGGAGAGGAGGGGCCCAGGCTGGGCAGTGGGTTGGGCAGGGCTGGGAATTGCTTGGATGTGTTGGTGAGGGAGGATCAGAGGAGAGGCAGACCAGGGAGCTGAGGTAGAAAGGATCCTTTCCAGCCAGGGGCTGACCTGGCCCCCAAGGAAAGTTTGAGTGGACCCTCCACACTGCCCTCTTGTGGCCACCGTGTCTCTGAGCTGGAAGGGCCCTGAGCTGCCACGCCCGGGACAGGTGACTCTAGGCAGGATGCCAGCACCCACCCCAGGGCCACTGGGGGCCTGTAGGCAGAAGAATAGGGCTGCAGGGCCCTTCTGCTGTCTGACCTGGTGCCCAAGGAGGGCCTCTCCCTCCCACCTGGGCCTGAGGGTCAGGGTGGCAAGAGGGAGAGGCCCTCGGCAGGAGTGGCCTCTGGGAGGGACTTCTGAGCACCGCCAACACGCCCGCTTTGTGCATCCGCAGGCTCTTCGCGGCCAAGTGCAGCGGCTGCATGGAGAAGATCGCCCCCACCGAGTTCGTGATGCGGGCGCTGGAGTGCGTGTACCACCTGGGCTTCTTCTGCTGCTGCGTGTGTGAACGGCAGCTACGCAAGGGCGACGAATTCGTGCTCAAGGAGGGCCAGCTGCTGTGCAAGGGTGACTACGAGAAGGAGAAGGACCTGCTCAGCTCCGTGAGCCCCGACGAGTCCGACTCCGGTGAGGCCTGGCCTGAGCTGGGGGCAGGCCTCAGGGACGGGGGTTGCTGGGGTGTCCTGGAGGGGAGTCCCGGCTGGAGAAGCCACCTCCTGCTTCCAGGACCTGAGCTGCACACAGATGGTACATGCATATCCAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTG
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Task1_train_13159
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A mutation on Chromosome 9 affecting LMX1B (LIM homeobox transcription factor 1 beta) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Nail-patella syndrome
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CAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCT
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CAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCAGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCT
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Task1_train_13160
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The following genetic variant occurs in LMX1B (LIM homeobox transcription factor 1 beta) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Nail-patella-like renal disease
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CAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCT
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CAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCAGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCT
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Task1_train_13161
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This alteration in LMX1B (LIM homeobox transcription factor 1 beta) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Nail-patella syndrome
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CAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCT
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CAGATGCACACGCGCACTGACGTGTCCACCTGTGTGCACATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCAGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCT
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Task1_train_13162
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A variant has been detected on Chromosome 9 in LMX1B (LIM homeobox transcription factor 1 beta). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Nail-patella syndrome
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CATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCC
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CATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGCCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCC
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Task1_train_13163
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Here is a genetic alteration in LMX1B (LIM homeobox transcription factor 1 beta) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Nail-patella syndrome
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CATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCC
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CATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGCCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCC
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Task1_train_13164
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Chromosome 9 houses a mutation in gene LMX1B (LIM homeobox transcription factor 1 beta). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Nail-patella-like renal disease
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CATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCC
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CATGATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGCCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCC
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Task1_train_13165
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A variant has been detected on Chromosome 9 in LMX1B (LIM homeobox transcription factor 1 beta). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Nail-patella syndrome
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GATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCT
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GATACGAACATGCATCCCCCCAGGCACACTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCCCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCT
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Task1_train_13166
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This sequence variant lies in LMX1B (LIM homeobox transcription factor 1 beta) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Nail-patella-like renal disease
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CTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTAC
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CTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCAAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTAC
|
Task1_train_13167
|
A genomic change on Chromosome 9 affects LMX1B (LIM homeobox transcription factor 1 beta). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Nail-patella syndrome
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CTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTAC
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CTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCAAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTAC
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Task1_train_13168
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Gene LMX1B (LIM homeobox transcription factor 1 beta) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Nail-patella syndrome
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CTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTAC
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CTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCAAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTAC
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Task1_train_13169
|
Gene LMX1B (LIM homeobox transcription factor 1 beta), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Inherited focal segmental glomerulosclerosis
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CTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTAC
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CTACCCCTGAGACCTACGCATCCATACATATAAACATATGTGTGATCACATGTGTGCACACAAGCACATAAAATGCATGCAGGAATACCCCTACCCTGAGTATGGATACATGTACATGTATGTGGAGATATGTGTTCACATACCCGGGAATTCAAAAGCCACACCCAGGTCCACACACACAAGTGTACACACTTAAGCATACATACACATACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCAAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTAC
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Task1_train_13170
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Gene LMX1B (LIM homeobox transcription factor 1 beta) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Nail-patella syndrome
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TACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCT
|
TACACACATGACACAGCACACTTGTGCACTAAACACCGGTCCACATGGCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCCAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCT
|
Task1_train_13171
|
A sequence alteration has been identified in LMX1B (LIM homeobox transcription factor 1 beta) on Chromosome 9. Is it disease-inducing or harmless?
|
Pathogenic; Nail-patella syndrome
|
GCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGA
|
GCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGCTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGA
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Task1_train_13172
|
With a mutation on Chromosome 9 in gene LMX1B (LIM homeobox transcription factor 1 beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Nail-patella syndrome
|
GCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGA
|
GCTGCACATATATGTTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGTTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGA
|
Task1_train_13173
|
Gene LMX1B (LIM homeobox transcription factor 1 beta), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Nail-patella syndrome
|
TTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGAAGATGAGGAGGGGA
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TTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAAACAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGAAGATGAGGAGGGGA
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Task1_train_13174
|
This mutation occurs in LMX1B (LIM homeobox transcription factor 1 beta) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Nail-patella-like renal disease
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TTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGAAGATGAGGAGGGGA
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TTTGTCCACATGCTCACATGTACTGTGGATTGTGCTTGTGTGCACACACACACCTCTTGTTCTCTGGCCCACCCCCCTTACCCTCTCTGCCTTGATGGCCCCCCACCAACCCGCAGCCCAGCTCCACAGGGGTCTTCACCAGCACCCAGTCCACAGGCTGGGGATGCCTGAGAGGCAGGGAGATGATGTGCCTTCCCCTTCTCAGCCCCCTGGAGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTAACCTGGAGCCCTCCGGCAACAGGATCTGCCACATGGGAAGGGTTTTCCATGGCCAGGGCCTGCGTGGAGGCAGTGAGCCCACCACCATCTGTCCCTACCCATCCCTGGGCAGGGCACTGCTGCAGCCAGCTCCATGGCTTCCAGCTGCCTGGACTCCTGAGGAAGAGCAGAGGCTGGCCAGCCCCAGCAGAGGGGGTCTCAGTGGGAGGAGATCACCCGCCTCATACTCCAAGAACAGGATTGAAGAAAGGAGACCAGCCTGGGGGGCAGCGGGAGGCCCAGTGGTGGCTGGGGAGGCTTGGCCATCCATCTGGGGCTGCTGGCATTTCTGAGACCCAAACCTGGGGCGGGGAAGTGCCATGTGTGCATGGTGGGTGTGGCTGTAGCACTGGGAGAATGCACATGCTTCCGCACGCTGTGTGTGTCTGTCCAGATGCATGCATGCCTGTACGTTCCTGCCCGTGAGCATGGGCCCATGTGTGTGAATACGCCTGTGAGTTGCACGCGTGAGGGCCTTTGTGAGCCCACGTGTATGTGGCAGCAGGTGAGTGTGCATCTTACGAGTGTGTGCGTGCATACGCTGTGGTCAGAAGCACTCTTGTGTGAATATCTGTGGTGTGTGTCTTTGCTTGCACACTTTCGTGTATGTCCACACAGCCATGTGCACAACCGTGCGTGCACCTGTCTGCCTGTTCCCCGAGTGGGCCTGCCTTCCTGAAAGTGTGTGCAGCCACATGTACGTGTGTGCATGCCTGTGCTGTGGTTGTCCGAGGCGCACCTGTGTGAGTTCCTGTGCAGGTGTGCCCTGCGGCCCAGGATGAGGGAGTGAGGCGTGTGTGCCGGGGAAGGGACTCGCAGGGTACAGCAGGCAGGAGACCAGGGCCCAGATGAGGTAGGGCCTGTGGGCCACGGGAGGGAAGGAGATCTTATCCTGGGCCACTGGGGAGCCACGGCAGGTGTCAACAGAGGGGACAGGCTCCCATCGGGCAGCAGGTTGCCGAAGGGGACAAGGCTGAGGCCTGGGCTGCCCCCGCCCCTTCATCACAGGCCGGGTTGTGTCCCCCACAGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGCCGAAAGGTGAGGGGCGGCCGGGGGGCGGGGCTCAGGCTGATGCCCGCACACCCACTGCCTTTCTGGAGACCACCCCCTGCTCCTGCTGGGGGTAGGGACATCCCTCCATCCTCCATCTCTCCGCACATCCCATCATACCCCTAAACCCACCATCTCCCCGTTGCTGCCCCTGGAGGGCCTGACCTGTTCCCCTCTCTCTGAGCCAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAAACAAAGAGCAAAGGTAAGAGGCCACCCCCCATCCCCACTGGCCCCGGGTAGGGTGGGACTAGAGGGGGCAGCCAGAAGACTACGGTCCAGGGGGCGTGGGGCTGGCTGTGCCTGGGGGCGAGGGGCAGCACCGGCCTGAACTGCGCTCTCCCTGCAGATGAAGAAGCTGGCGCGGCGGCACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGGTGAGCTGGGGCCGGGGCCAGGGGTGGGCCTAGGCCAGGGTGAGCTGGGGCAGAGGCTGGGGCTGGGTGAGCCTGGGCCAGGGCTGGGACCGGGGCTGCACCTGTCCCAGGGCTAGGGACAAAGGGGCCCGGGATGTTTCTTTTAACAAAACTTCTCAAAAGCCTTCCACCAAGGCCATCAGATCCCAGGGAACTTCTGCTTTAAAACCACTGAGACAGAGAAATAGAGAAGCCATGGGGACTAGGGGACCCAGGGAGGAGAGATGGCAGAGTGGCTGCCTGGAGGGTTGGCAGAATTTCTGCAATCAGAACAGCAACAGTCTACTCACACTCACTGCGTGCAGACACGGGTCTCAGCCTTCAGCACACCCCATCTCACCCTGTCCTCATAAATCACTGCAAGGGGGGGTATTGCCATGTCCCATTTCACAGATGAGGAAACTGAGGGACTGCCTGGGATCCCTCAGCCAGTAAGGCAAAGCTGGACCTCAGCCCCAAGCCTGGAGCTCAAGCCTGTACCTTTAACAGGATGACACTACCCCACTGCCGGAATTCTGCAGACAAAGCTTGTCAGGGCGTGAAGGGCCTGGGGAGTCGGGAGGGACTAGCTGCAGGGGCATGAGTCAGGCCCCCTCATCACTGGGCTTTACCAAAAATCGTGTTTCCACATCAGAATCTTGAGCCAGGGCTGGTCTCCTGGGCCTTCAAAGCCATGAGGGAGGAGCAGGGAGCTCCCTGGGACTGCTGAAGCAGGCGGGGGACAGAGCTGCCTGCGCCCTGGTGAGAGGGAGGCTTCTGGGCAGGTGCCAGGGCACCAATGGGCAGATACCAGGGCACTGGGGGCCAGGCCAGTGTCCCAGGCTGGACTTGGCTTCTAATGACACAGCCTTAGTGCCTGCTGCTTCCTCGCTTCCCCCTCTGCCCCTCCTGGGGCTGCAGTCACTGCCTCTGGTCTCCCAGCCATGTCCTGGGCTATGTCTCACCCCTCAGTGTTCCTAGCTGCTTCCTGGACACAGCCTCCCTGAGAAGGTCCCACAGTCCCCCCAGCTCATCCCAACCCATGCCGTATGCTCCATCCTGCCCACACGCACATGGCATGCCCTGCTCCTCCCCACCCTTCTCTGCAAATGGCACCACCATCCGCCCTGTCCGAGCCAGGAACCAGGAGTCACCTCTGACCTTCCCCATCCCACACTGCTGATCCACTGAGGTGCCAAGTTGGGGAGTGAAGTCTTCTCATGTCTCTCGCACCCTCCTAGGAGCTGTCTCTCCCACAGCCACCTTGACAGAGACCCCACCCTTCCTCTGGCTTCCTCACCCACTGGCCCCAGCCTCGGTCTCCTCCTCCAGCCTTTCTCACCCTCGTCTACCAAACCCTCCAGCGGCTCCCAGCGGCCTCGGGGACCCCCACCCAGCTCGGCACCCCAGGGCTCCCCATGACCTGTGGTCCCTCTCAGCTGGTCTCCCCCACACCGACCTCTCTCCCTGCCTCTTGGCCCCACGTGCTGCACCCTCACTTACCCGGCGGTCTGTCTCCTCCATGCCTTTGCCGCCCCTCAGCCTGGCTTGCCTCCCCTGCTCTGGCCTGTTGAGCCCCTGCTAGTTCTTTAAGTCACATCAGGGCGGGGGCCCTTTCCTCCAGGAAGTCTTCCCGGGGCCTTTTTGGCCTGGGTCTGGGACCTTGGTGCTCCCAGATGCAGCGCAGAATCACTATTGCCTGTGTGGGGTCTGCCGCCTCCCTGGATCCCCTGGAGGGGCGGGGTGGTGGGAGGAAAGAAGATGAGGAGGGGA
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Task1_train_13175
|
This sequence variant lies in LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2P
|
CCCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCCGAGCCTGGGAGCCAGCGTCCCAGCCTAATCACGGATCTGCTGCCTCCCAGCTGTCTTGACTGAAGGCCACCGCCCCTGCAGGAGCTTGGGTCCTCATCTGGGGGCCATGCACAGGCCCGTCCCACCCTGCATGTGGGAAGGGAGCAGGAGGGCCTGGCTGGGTGAGGGGAGGCCTTCCTGGGAAGGCGTGTGGTGCAGGCCTGTGCTCACAGTGGCACCAGCAACCCTGGGTCTCCCTCTCTGCTGCTCCCCAGAACCCCGGGGCCCTCCTGCTCTCCACAACTGTCCCTCCTTACCCCATGTAGCTCGATCCGAAGCAGGAGTGTCAATAAACCTGTCTTCAGTGCGCTTCTGGCCTGAGTCATCACTGGGTTCTCATGGGAGCCCAGGGAGGGGAGGGGACGAGGTCTGGGGATGGGGCTCGGGCAGAGGGCAGCTCTTCTCGGGGAAGGAGCCAGGAGTGCGCCGCACCTCAGTCGAGAGGAGAGGTCAGGTAGGGCCATCTCGAATGTCGTGTTATCCCAGCGCCCCCTTCACAGGTGGAGAGACCAGGGCCCAGAGGCAGCCAGGGCCGGTGATGGCTGCGGCCTGTGCCTCCATGAGCGGAGGAGCCCTGTGTGTTCCGTCCATTATCCCAGTGAGGCAGCTGAGGCTGATGGGGGTAAATGCTCAGGGCCTTGCAACTGGGACATGGTGATGCGGGGTTTGAGGCCCAGAAGCATCCTCACCTTCAAGCCCGTGCGGTTGTGCAGGTTGGTCACTGCACAATTCTTGGAGCCATATACACTTGCACTCGCTGCAGAGGTGCACGTTGATTATGCATTTTCCGGCAGACGGCGTTGAGCCAGGTGCAGCCTCTTCCTTGGGCTCGTGGCAGGCCTGCTTGGAGCACCTGGGCTCTGCCTCCAGCTCATTCAGTGATCGTGGCCAGTGTTTGGGCTCCTTTCCCTGTGCATTCAACACAGGACGTGATGCAGCCCTGACCGGCTGGTGGCCTCCAGGGGGCGCTGAGTGCTTGCCCCAAGTACAGCGTCCGCAGAAGCAGGCAGGAGAGTTCAGGTCCTGGGGTGGCAGAACAGCCCTACGCCTGGGCCTGTTTCCCTCTCACTGAGACCATCAGTCCTGTGCACTGAACAGGGCAGGCGAATACCCTTTGTCGTGTGAGTCATTTCCCAGGCAGGAGCTGGGTGGCCTTTTCCCACCCACAGTTCCCCCTCAGTTCCCCCTCCTCCCAACACCCTCCTGGGCTCAACTTGGCCAAGAGGGGAGAGACTGAGGCAGGTGGGGCTACCTCCTGGAGCGCAGTGCTTTGCAGATCTCCTTACGCTCTCACTAGGGCCCAGGGAGGCCTCATGGAGGATCTCGAGGCTCAGTGACCTGCCAAGGACAACAGCAAGGGACAGCCGCATCCCTGGTCTCCGGCCACACAGCCCCGTGTTCTGCACCTCAGCCCTTGTTGACCGAGGGAGGCCCAGGCCCAAGCCCTAGGCCACCATGGACAGGCTGGCACCAGGGAAGCCAACATCCCCAAGGTGACTGGCTGCCACCCCACCAGTAGGGACATGTTTTTACCCATAGATGGGGCAACCCACCCCCAACAGCTGCAGGGGCTCGAGGGCTGTTCCTGTACCACATAGGCTCAGCCCAGGTCCCCACCTTCCAAGGCCTCAGTGTACACATCGGTGAAATGGTGGTGACGACTG
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CCCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCCGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCCGAGCCTGGGAGCCAGCGTCCCAGCCTAATCACGGATCTGCTGCCTCCCAGCTGTCTTGACTGAAGGCCACCGCCCCTGCAGGAGCTTGGGTCCTCATCTGGGGGCCATGCACAGGCCCGTCCCACCCTGCATGTGGGAAGGGAGCAGGAGGGCCTGGCTGGGTGAGGGGAGGCCTTCCTGGGAAGGCGTGTGGTGCAGGCCTGTGCTCACAGTGGCACCAGCAACCCTGGGTCTCCCTCTCTGCTGCTCCCCAGAACCCCGGGGCCCTCCTGCTCTCCACAACTGTCCCTCCTTACCCCATGTAGCTCGATCCGAAGCAGGAGTGTCAATAAACCTGTCTTCAGTGCGCTTCTGGCCTGAGTCATCACTGGGTTCTCATGGGAGCCCAGGGAGGGGAGGGGACGAGGTCTGGGGATGGGGCTCGGGCAGAGGGCAGCTCTTCTCGGGGAAGGAGCCAGGAGTGCGCCGCACCTCAGTCGAGAGGAGAGGTCAGGTAGGGCCATCTCGAATGTCGTGTTATCCCAGCGCCCCCTTCACAGGTGGAGAGACCAGGGCCCAGAGGCAGCCAGGGCCGGTGATGGCTGCGGCCTGTGCCTCCATGAGCGGAGGAGCCCTGTGTGTTCCGTCCATTATCCCAGTGAGGCAGCTGAGGCTGATGGGGGTAAATGCTCAGGGCCTTGCAACTGGGACATGGTGATGCGGGGTTTGAGGCCCAGAAGCATCCTCACCTTCAAGCCCGTGCGGTTGTGCAGGTTGGTCACTGCACAATTCTTGGAGCCATATACACTTGCACTCGCTGCAGAGGTGCACGTTGATTATGCATTTTCCGGCAGACGGCGTTGAGCCAGGTGCAGCCTCTTCCTTGGGCTCGTGGCAGGCCTGCTTGGAGCACCTGGGCTCTGCCTCCAGCTCATTCAGTGATCGTGGCCAGTGTTTGGGCTCCTTTCCCTGTGCATTCAACACAGGACGTGATGCAGCCCTGACCGGCTGGTGGCCTCCAGGGGGCGCTGAGTGCTTGCCCCAAGTACAGCGTCCGCAGAAGCAGGCAGGAGAGTTCAGGTCCTGGGGTGGCAGAACAGCCCTACGCCTGGGCCTGTTTCCCTCTCACTGAGACCATCAGTCCTGTGCACTGAACAGGGCAGGCGAATACCCTTTGTCGTGTGAGTCATTTCCCAGGCAGGAGCTGGGTGGCCTTTTCCCACCCACAGTTCCCCCTCAGTTCCCCCTCCTCCCAACACCCTCCTGGGCTCAACTTGGCCAAGAGGGGAGAGACTGAGGCAGGTGGGGCTACCTCCTGGAGCGCAGTGCTTTGCAGATCTCCTTACGCTCTCACTAGGGCCCAGGGAGGCCTCATGGAGGATCTCGAGGCTCAGTGACCTGCCAAGGACAACAGCAAGGGACAGCCGCATCCCTGGTCTCCGGCCACACAGCCCCGTGTTCTGCACCTCAGCCCTTGTTGACCGAGGGAGGCCCAGGCCCAAGCCCTAGGCCACCATGGACAGGCTGGCACCAGGGAAGCCAACATCCCCAAGGTGACTGGCTGCCACCCCACCAGTAGGGACATGTTTTTACCCATAGATGGGGCAACCCACCCCCAACAGCTGCAGGGGCTCGAGGGCTGTTCCTGTACCACATAGGCTCAGCCCAGGTCCCCACCTTCCAAGGCCTCAGTGTACACATCGGTGAAATGGTGGTGACGACTG
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Task1_train_13176
|
A variant has been detected on Chromosome 9 in LRSAM1 (leucine rich repeat and sterile alpha motif containing 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2P
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CCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCCGAGCCTGGGAGCCAGCGTCCCAGCCTAATCACGGATCTGCTGCCTCCCAGCTGTCTTGACTGAAGGCCACCGCCCCTGCAGGAGCTTGGGTCCTCATCTGGGGGCCATGCACAGGCCCGTCCCACCCTGCATGTGGGAAGGGAGCAGGAGGGCCTGGCTGGGTGAGGGGAGGCCTTCCTGGGAAGGCGTGTGGTGCAGGCCTGTGCTCACAGTGGCACCAGCAACCCTGGGTCTCCCTCTCTGCTGCTCCCCAGAACCCCGGGGCCCTCCTGCTCTCCACAACTGTCCCTCCTTACCCCATGTAGCTCGATCCGAAGCAGGAGTGTCAATAAACCTGTCTTCAGTGCGCTTCTGGCCTGAGTCATCACTGGGTTCTCATGGGAGCCCAGGGAGGGGAGGGGACGAGGTCTGGGGATGGGGCTCGGGCAGAGGGCAGCTCTTCTCGGGGAAGGAGCCAGGAGTGCGCCGCACCTCAGTCGAGAGGAGAGGTCAGGTAGGGCCATCTCGAATGTCGTGTTATCCCAGCGCCCCCTTCACAGGTGGAGAGACCAGGGCCCAGAGGCAGCCAGGGCCGGTGATGGCTGCGGCCTGTGCCTCCATGAGCGGAGGAGCCCTGTGTGTTCCGTCCATTATCCCAGTGAGGCAGCTGAGGCTGATGGGGGTAAATGCTCAGGGCCTTGCAACTGGGACATGGTGATGCGGGGTTTGAGGCCCAGAAGCATCCTCACCTTCAAGCCCGTGCGGTTGTGCAGGTTGGTCACTGCACAATTCTTGGAGCCATATACACTTGCACTCGCTGCAGAGGTGCACGTTGATTATGCATTTTCCGGCAGACGGCGTTGAGCCAGGTGCAGCCTCTTCCTTGGGCTCGTGGCAGGCCTGCTTGGAGCACCTGGGCTCTGCCTCCAGCTCATTCAGTGATCGTGGCCAGTGTTTGGGCTCCTTTCCCTGTGCATTCAACACAGGACGTGATGCAGCCCTGACCGGCTGGTGGCCTCCAGGGGGCGCTGAGTGCTTGCCCCAAGTACAGCGTCCGCAGAAGCAGGCAGGAGAGTTCAGGTCCTGGGGTGGCAGAACAGCCCTACGCCTGGGCCTGTTTCCCTCTCACTGAGACCATCAGTCCTGTGCACTGAACAGGGCAGGCGAATACCCTTTGTCGTGTGAGTCATTTCCCAGGCAGGAGCTGGGTGGCCTTTTCCCACCCACAGTTCCCCCTCAGTTCCCCCTCCTCCCAACACCCTCCTGGGCTCAACTTGGCCAAGAGGGGAGAGACTGAGGCAGGTGGGGCTACCTCCTGGAGCGCAGTGCTTTGCAGATCTCCTTACGCTCTCACTAGGGCCCAGGGAGGCCTCATGGAGGATCTCGAGGCTCAGTGACCTGCCAAGGACAACAGCAAGGGACAGCCGCATCCCTGGTCTCCGGCCACACAGCCCCGTGTTCTGCACCTCAGCCCTTGTTGACCGAGGGAGGCCCAGGCCCAAGCCCTAGGCCACCATGGACAGGCTGGCACCAGGGAAGCCAACATCCCCAAGGTGACTGGCTGCCACCCCACCAGTAGGGACATGTTTTTACCCATAGATGGGGCAACCCACCCCCAACAGCTGCAGGGGCTCGAGGGCTGTTCCTGTACCACATAGGCTCAGCCCAGGTCCCCACCTTCCAAGGCCTCAGTGTACACATCGGTGAAATGGTGGTGACGACTGT
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CCACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAACGGGAGGTAAGTCCGGGGCCCTCCCCACCCGCCTGCCCTGCCTGTGGCCACCCTCCTCAAATTCTGCAGGTACAGGGTTGTCTCTGAACGTGTTTTCTCCAGTTCTCTAAGTAGACTGTGCTCATCTAGAAAGAAGGCAGGAAATAAAGATGACCCCTGGTCCCATGACCCAAATATGAGCTGCGCTCACATCATTTTCCGGACCTTTTTCTTTTTGTTCCTACTTAATAAATACATTAGGAAAAAATTTCCCAAATCATGAAATATCAACAACATGATTTACCCTGCAGAGGCTTTAGAAAATCATCTTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAAAAATACAAAAATCAGCCAGGCGTGGTGGTGGGCGCCTGTAAGCCCAGATACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGCAGACAGATCGAGATTCCATCTCAAAAAAAAGAAAAAATCATCTTTTAAAAATTCATTAACACTTACTCTAAAAATTACACAGAGCAGTGAATGAAATACAAATCCTCCTTTGCCTCCACTGAGGGATCCTACTTAGAAAAGCAGCCATGTTTGCAGTTTGATGATTCCAGGGTCTCCCGTTGACCTGACTCATGCCATGATATGGATGGACCTATTGGTTCCAAATATAATCCCTGTTCTGGGGCCCTTGGCATTCCAGACAGCTTTGAGCGGAGCTTGGATCAGTTCCTGAAAGCAGGAGATGCTGAGGCAAAGTGTGGTCCTGAGTCAGTGGCTGCTGCTCCGGGTTGGGATTGTTTGTAGACTGAGGAGTTCAGGGCCTGGGCAAGTGCATCAACAAGAAAGAAGCCTGAACACCCTGCGTGCCCTCCGGCAGGGGCCGGCGGAATAGGCCTCCGTCGCCTGTCCAGAGCGCAGGAATATAATCCCCAGTTTTATTTAAGAAAGAATCAGTTGGGGCATTTATATGGGTATTTATATTTTTTACAAACTATAGAGAAATAGACAGCAAACTGCTAACAGAAGGCCTAGGTTACCTGTTTCGGCCGTGCCTGTTCTGTTTCTGTGGTGGTCAAATGCCCGAAGGCCCCACTATCAGGCGTTTATGGTAAAGATGCTAAAGAATAATGAAGGGGGCCGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGGGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTTAGCCAGGTATGGTGGTGCACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCCGGGAGGCTGAGGTTGCAGTGAGCTGAGATCCCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACGGGCCTGGGACTCCTGGAACCCGGTAGGGCCAGCCACATGCTCCCGCTCTCCCTCCCCAGGCCCAGATGATCTTCCTCAACTGTGGCCACGTCTACTGCTGCCAGCAGTGCTGCCAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGCCCGCCCACCTGGGCCTGGTCCTAGCCCTGCCTCGGCCACTGTGAGCCCCGGGCTCCTGCTCAGCCTTGTGCCAGCCAGACTCGTATGAGGCTCCCCCCTGCCCTGGGCCCCTTCCCCACTGCCCAGGAGCCCCCATCCTAAGCTCCAAGCATGTCTGGGCCAGGCAGAGGTGCTCCTCATCCATGACACCACCAGTCTGAATGGTCCTGGGGGCTGGGGCTGGAGAGGCCGCTGCACCACCACCCGAGCCTGGGAGCCAGCGTCCCAGCCTAATCACGGATCTGCTGCCTCCCAGCTGTCTTGACTGAAGGCCACCGCCCCTGCAGGAGCTTGGGTCCTCATCTGGGGGCCATGCACAGGCCCGTCCCACCCTGCATGTGGGAAGGGAGCAGGAGGGCCTGGCTGGGTGAGGGGAGGCCTTCCTGGGAAGGCGTGTGGTGCAGGCCTGTGCTCACAGTGGCACCAGCAACCCTGGGTCTCCCTCTCTGCTGCTCCCCAGAACCCCGGGGCCCTCCTGCTCTCCACAACTGTCCCTCCTTACCCCATGTAGCTCGATCCGAAGCAGGAGTGTCAATAAACCTGTCTTCAGTGCGCTTCTGGCCTGAGTCATCACTGGGTTCTCATGGGAGCCCAGGGAGGGGAGGGGACGAGGTCTGGGGATGGGGCTCGGGCAGAGGGCAGCTCTTCTCGGGGAAGGAGCCAGGAGTGCGCCGCACCTCAGTCGAGAGGAGAGGTCAGGTAGGGCCATCTCGAATGTCGTGTTATCCCAGCGCCCCCTTCACAGGTGGAGAGACCAGGGCCCAGAGGCAGCCAGGGCCGGTGATGGCTGCGGCCTGTGCCTCCATGAGCGGAGGAGCCCTGTGTGTTCCGTCCATTATCCCAGTGAGGCAGCTGAGGCTGATGGGGGTAAATGCTCAGGGCCTTGCAACTGGGACATGGTGATGCGGGGTTTGAGGCCCAGAAGCATCCTCACCTTCAAGCCCGTGCGGTTGTGCAGGTTGGTCACTGCACAATTCTTGGAGCCATATACACTTGCACTCGCTGCAGAGGTGCACGTTGATTATGCATTTTCCGGCAGACGGCGTTGAGCCAGGTGCAGCCTCTTCCTTGGGCTCGTGGCAGGCCTGCTTGGAGCACCTGGGCTCTGCCTCCAGCTCATTCAGTGATCGTGGCCAGTGTTTGGGCTCCTTTCCCTGTGCATTCAACACAGGACGTGATGCAGCCCTGACCGGCTGGTGGCCTCCAGGGGGCGCTGAGTGCTTGCCCCAAGTACAGCGTCCGCAGAAGCAGGCAGGAGAGTTCAGGTCCTGGGGTGGCAGAACAGCCCTACGCCTGGGCCTGTTTCCCTCTCACTGAGACCATCAGTCCTGTGCACTGAACAGGGCAGGCGAATACCCTTTGTCGTGTGAGTCATTTCCCAGGCAGGAGCTGGGTGGCCTTTTCCCACCCACAGTTCCCCCTCAGTTCCCCCTCCTCCCAACACCCTCCTGGGCTCAACTTGGCCAAGAGGGGAGAGACTGAGGCAGGTGGGGCTACCTCCTGGAGCGCAGTGCTTTGCAGATCTCCTTACGCTCTCACTAGGGCCCAGGGAGGCCTCATGGAGGATCTCGAGGCTCAGTGACCTGCCAAGGACAACAGCAAGGGACAGCCGCATCCCTGGTCTCCGGCCACACAGCCCCGTGTTCTGCACCTCAGCCCTTGTTGACCGAGGGAGGCCCAGGCCCAAGCCCTAGGCCACCATGGACAGGCTGGCACCAGGGAAGCCAACATCCCCAAGGTGACTGGCTGCCACCCCACCAGTAGGGACATGTTTTTACCCATAGATGGGGCAACCCACCCCCAACAGCTGCAGGGGCTCGAGGGCTGTTCCTGTACCACATAGGCTCAGCCCAGGTCCCCACCTTCCAAGGCCTCAGTGTACACATCGGTGAAATGGTGGTGACGACTGT
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Task1_train_13177
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This variant affects the gene LOC130002651, STXBP1 (ATAC-STARR-seq lymphoblastoid silent region 20307| syntaxin binding protein 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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CTGATATGTGCCAGCTGGCGAAGGAGGAAGCATGTGGCATTACCAGTGCATCCTAGGTCTCCCCATGTTTACACACTATCTCCTCCTCCAAATACACACAGGGGCTATCAATATGTTTCCTGGGCAAAAGGCAAGGCCCAGACATAGAGAGTTGACACATTAACGCCTCCTCTCTCTCTGAACCCATCTGAAGGTTCTGTTGGGGGTAGATTGGGGTGGTGGTGAGAAGATGGTCAAATCTGCTTGACTTGGGGCTGGCGACTGAAGTAGGACATGTAGCCTCTTGTCCTGGCTCAGCCACCACTGGCTTCTGTGACTTTGGAAAATTCCTCCTTAGTTCTCAGCAGGTTTTTTGTTTTTTGTTTTTTGTTTTTGCTCAGTATAAGATAATGGTTCAGAATTCAGATCCTAGAATTGGATCTTTCCTTTGTCATTTACTAATAAAGCACTTATCCACTCTGAATCTCAATTCTTCATCTGTAAAATATTATTATGCATCTTAATAATATGAAGATTAAAAACCTAGCTCAAATGTATTCCAAATATTTAATGAATGTTCACTGATTTTTACTACTACTAGCTCTCTTATTCTTTTTTATTTTTAATTGGCTCAATTTGTGTTACTTTGAAGCCAAAAGCAAGCCCTCCCCCATATTTCAAAAGTAGTATCTGAGACCATCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTGGCCAGGCGATGGTGGCGGGCGCCTGTAATCCCAGCTACTCTGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGAGCCACTGAACTCCAGCCTGGGCGAAAGTGCGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAAGAAAAGCAGTATCTCCTATTAACAAAGAAAGTTGAGCAAAAACTGACCTGGGACCGCTTTAATAAATACGGACTCCAGGAAGGAGATACTGAGACCAGAGTCGGTCCCACAGTATATTCGTATCAGATTTGGGGCTTAGAAACTTCTAAACTCTGAGCGCCCATAAGCAAGATGAGATTCTGCCTTGTACATGGTCGTAGCTCCAGGGGACAGAATAACGGCTTACACATAAAAGTGACAGAATACTGAACATTAGCTAACGGATGCTACGCTGCCTGAAGGTAAGTCTAGTGCTATTTCCAATATCTCCGAGACTTGGTTTTTCCACCGGAAAATGGAGATTAAAAATAATGCCCATAGGTATGAGCTAAGAGGAGTGTAAACAAAACAAAATAAAAAGCAATGCCCAGTGATTGGAGGATTTGATGAGATGATGCCCGCGAGGTGCTTGGCACGGAGTTTGACACAAGAACTCAGTGTTGGTGAATGCACGAATGCAGGTACCCAGCGACAGGGAGGTGCTGTGGGTGGATTCACCCTGGCTTCGCTGCGGCTGGGAGTGGGCGCTGCTAGTAAGAGATCTCGCCTCCAAGCTCCTTCCGTGGGCAGGAAAAAACGGAAGCTCCCAGAAAGAGGAAAGACAGGACCCGAGCGGGGTTTCAGGCAGATGGAGCGCGTCGGTAGCCTGTGGCCAGGGATCCCAGCACCGACGGGAAAGAGGAGGCCTGGGTACCCTGCGCCCCGGGCGCGCGCGGCGCGTGAGGTGAGGGGGAGGGCGCGGCTCCGCACCAGCCAGCGGCCGCCTGGCGCCCAGCCGCATCTCGGGGGGCGGGGTTGAGCCTCCGGGCCGCAGTGCGATTGGCGGAGGCGAGTGGGTGACGCCAACGGCCGGCGCGAGGCCCCGCCCCCGGCTTGCCCCGCCCCCGCGCGCGCCGGCGGCGGGGCAGCCTCGCTCTGGCTCGCGCCGCGCCCCCGCGCCCAGTCCGCGCGTCAGTCGGTCCCTAGCGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACCTGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAGACTCGCGCAGCGCCATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAGTAAGTGGAGCCGGGATCCTTCCAGCAGGCGGGGACTGCGGCTCCCGAGGAGCCCCGCGCGGCCCCTGCCGGCAGCGCCCAGGCCTCCGAGCGGGCTGCCGGCCCTGCGCCCCGGGCCTGAGGCTCCTGGTCCGTGGGGTCCCGTTATTCAGGCGCCGCCCGCGCGAGAGGAAGGCTTGCCCCGCTCTCCCCTCCCTCACCTCATGTTTCACCCCAGCCCTCCCCCTGCAGCCCGCCCTCCTCCCTCGCCATCCTCCTTCCTCGCGGTCCCTGTCTCCCTTTTCCCTGCATCCTCCTTCCCCTCCATCCCTCCCTCCCTCTCTTCCCTTCACCCCCATTTCTCTCCCCTCGCCCCATCCTTCCCCCTTCCTCCACCCCTCCCTCACCCCACTCTCTCCATCCCGCCTCTCCCCCATCCCACCCTCCTTCCCCCTCTTTCACCCCCAACACCCGTCCCTCTCCTTCATCTCGCCTCTACCCCCTGCAGCCCGTCACCCTCCCCCGCACCCCCATCCTCACCCCCGTTACCTTCCCCTCAGTCCCCTCTCCCCTTCCTCGTCTTTATTCCTTGAGCGCCCAGACTCCGCTCCCTTTTCCTGCAGTCCCTCCTCCTCCCCACCCTCCTGGGTGAGTCGTGACGAGCGAGATCCTGGCCTGCGTCCTCCTCCCCCGCCCCGGGCCGCGCCGCGGTCCCTGGCTGCGAGACCCACCTGGGAGACTAGGCGCAGTGGCTTGGCCTGGGGAGGAGACGCCTGTTTTCCGGAGGCTGAGCTCTGCTGGGCCGGGGCCACCTCACTCCTCCCCTTCCCGGGGCTTGGCTTCCAGGGCGGGGACTTATCAGGATCCTGAACCCCTGAAATCACTCGGGAGATGAGGAGAGCTTCGGTGTCCGCCGCCCAGCGCCGCAGTCTGCAATCTCCCTGGTTGCGGGGCTCTGCCCTGCCGTGGCCGAACGCTTCGGGAGCTCAGACCACGGTGGCAGGGAGGAAATGGTTGTTTATGGGTTTGGATGAAAGGCACCACATGAATGGATTTTTAAAAGTGGGTGGCGGCGAGTGGCGGCCGCAGCGGAGCGAGGGCTGATGGTGGGTGACATTTGCAAAACGGCATCCACAGTGCTAAATAAGATTGGTGATATGTGTGGAAAAACAGTGCCTTGTCAATATTTTGTCCATTTCTTTATAACAAAAAAAATGTGTAAGGATTGCTGTGGCTTTTGCTATCTCTTTGGGGATTAAGTGAAGATTAAAACTGGGCTTTTCTCTGTAGGAGAGGATAAGAAAGGAAAAAGAATAAAATGGTGGAAATCTAGTTTCCTTTCCAATGATTCTCTCCTATCGTAGCGCGCGCTCGCTGTGGAATGCTTTTGGCCATGTAGTGTTCTTGTTGGGCACCATAGCTGTTTTATTTCCCCTCTCCATTCTTTTCATTGATATATAGGAAATACTCCTACTGAGGAATCTAGTTGTAAAACCTTATCTCACCTATTACATCAGAAGAAAATTGTTATAAAAACTGAACACCAAATGAAACAAAATTTTAAAAGGTGCTCATCGTAACACCTTCATTGTACCCATGCAGTACGGGTTCTGATACTTGTACTCGAGATGTTTAGGGCTAGGAGGACCCATAGGGATCCTCTAATGTCAACATCTCATTTTACCCATGAATAAGAAATGGAGACTTAGAGCAGTTAAGTGACTTGACACAATCAGTGTTAATTTGGTGAAACCTGGTGGGCATTTCCTTGCAACATTAGTAAAAAATAACTTTCTTCATTATTCTGTATGTATCTTTTCTTTCCAATATCCTTTTAAAGCGTGAAATATAGAATAGAATGTTACAGGTTGTATTCTTTAAAATGTTACATTTGTACTTTGGGAGGCTGAAATGGGAGGATTGCTTAAGCCCAGGAATTCAAGATCAGCCTGGGTAACATAGTGAGACCCCATCTCTATAAATATAAAAGTAAAATAAAATGGTATATTTGAACACTACACATTGAAGATAAA
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CTGATATGTGCCAGCTGGCGAAGGAGGAAGCATGTGGCATTACCAGTGCATCCTAGGTCTCCCCATGTTTACACACTATCTCCTCCTCCAAATACACACAGGGGCTATCAATATGTTTCCTGGGCAAAAGGCAAGGCCCAGACATAGAGAGTTGACACATTAACGCCTCCTCTCTCTCTGAACCCATCTGAAGGTTCTGTTGGGGGTAGATTGGGGTGGTGGTGAGAAGATGGTCAAATCTGCTTGACTTGGGGCTGGCGACTGAAGTAGGACATGTAGCCTCTTGTCCTGGCTCAGCCACCACTGGCTTCTGTGACTTTGGAAAATTCCTCCTTAGTTCTCAGCAGGTTTTTTGTTTTTTGTTTTTTGTTTTTGCTCAGTATAAGATAATGGTTCAGAATTCAGATCCTAGAATTGGATCTTTCCTTTGTCATTTACTAATAAAGCACTTATCCACTCTGAATCTCAATTCTTCATCTGTAAAATATTATTATGCATCTTAATAATATGAAGATTAAAAACCTAGCTCAAATGTATTCCAAATATTTAATGAATGTTCACTGATTTTTACTACTACTAGCTCTCTTATTCTTTTTTATTTTTAATTGGCTCAATTTGTGTTACTTTGAAGCCAAAAGCAAGCCCTCCCCCATATTTCAAAAGTAGTATCTGAGACCATCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTGGCCAGGCGATGGTGGCGGGCGCCTGTAATCCCAGCTACTCTGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGAGCCACTGAACTCCAGCCTGGGCGAAAGTGCGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAAGAAAAGCAGTATCTCCTATTAACAAAGAAAGTTGAGCAAAAACTGACCTGGGACCGCTTTAATAAATACGGACTCCAGGAAGGAGATACTGAGACCAGAGTCGGTCCCACAGTATATTCGTATCAGATTTGGGGCTTAGAAACTTCTAAACTCTGAGCGCCCATAAGCAAGATGAGATTCTGCCTTGTACATGGTCGTAGCTCCAGGGGACAGAATAACGGCTTACACATAAAAGTGACAGAATACTGAACATTAGCTAACGGATGCTACGCTGCCTGAAGGTAAGTCTAGTGCTATTTCCAATATCTCCGAGACTTGGTTTTTCCACCGGAAAATGGAGATTAAAAATAATGCCCATAGGTATGAGCTAAGAGGAGTGTAAACAAAACAAAATAAAAAGCAATGCCCAGTGATTGGAGGATTTGATGAGATGATGCCCGCGAGGTGCTTGGCACGGAGTTTGACACAAGAACTCAGTGTTGGTGAATGCACGAATGCAGGTACCCAGCGACAGGGAGGTGCTGTGGGTGGATTCACCCTGGCTTCGCTGCGGCTGGGAGTGGGCGCTGCTAGTAAGAGATCTCGCCTCCAAGCTCCTTCCGTGGGCAGGAAAAAACGGAAGCTCCCAGAAAGAGGAAAGACAGGACCCGAGCGGGGTTTCAGGCAGATGGAGCGCGTCGGTAGCCTGTGGCCAGGGATCCCAGCACCGACGGGAAAGAGGAGGCCTGGGTACCCTGCGCCCCGGGCGCGCGCGGCGCGTGAGGTGAGGGGGAGGGCGCGGCTCCGCACCAGCCAGCGGCCGCCTGGCGCCCAGCCGCATCTCGGGGGGCGGGGTTGAGCCTCCGGGCCGCAGTGCGATTGGCGGAGGCGAGTGGGTGACGCCAACGGCCGGCGCGAGGCCCCGCCCCCGGCTTGCCCCGCCCCCGCGCGCGCCGGCGGCGGGGCAGCCTCGCTCTGGCTCGCGCCGCGCCCCCGCGCCCAGTCCGCGCGTCAGTCGGTCCCTAGCGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACCTGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAGACTCGCGCAGCGCCAGGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAGTAAGTGGAGCCGGGATCCTTCCAGCAGGCGGGGACTGCGGCTCCCGAGGAGCCCCGCGCGGCCCCTGCCGGCAGCGCCCAGGCCTCCGAGCGGGCTGCCGGCCCTGCGCCCCGGGCCTGAGGCTCCTGGTCCGTGGGGTCCCGTTATTCAGGCGCCGCCCGCGCGAGAGGAAGGCTTGCCCCGCTCTCCCCTCCCTCACCTCATGTTTCACCCCAGCCCTCCCCCTGCAGCCCGCCCTCCTCCCTCGCCATCCTCCTTCCTCGCGGTCCCTGTCTCCCTTTTCCCTGCATCCTCCTTCCCCTCCATCCCTCCCTCCCTCTCTTCCCTTCACCCCCATTTCTCTCCCCTCGCCCCATCCTTCCCCCTTCCTCCACCCCTCCCTCACCCCACTCTCTCCATCCCGCCTCTCCCCCATCCCACCCTCCTTCCCCCTCTTTCACCCCCAACACCCGTCCCTCTCCTTCATCTCGCCTCTACCCCCTGCAGCCCGTCACCCTCCCCCGCACCCCCATCCTCACCCCCGTTACCTTCCCCTCAGTCCCCTCTCCCCTTCCTCGTCTTTATTCCTTGAGCGCCCAGACTCCGCTCCCTTTTCCTGCAGTCCCTCCTCCTCCCCACCCTCCTGGGTGAGTCGTGACGAGCGAGATCCTGGCCTGCGTCCTCCTCCCCCGCCCCGGGCCGCGCCGCGGTCCCTGGCTGCGAGACCCACCTGGGAGACTAGGCGCAGTGGCTTGGCCTGGGGAGGAGACGCCTGTTTTCCGGAGGCTGAGCTCTGCTGGGCCGGGGCCACCTCACTCCTCCCCTTCCCGGGGCTTGGCTTCCAGGGCGGGGACTTATCAGGATCCTGAACCCCTGAAATCACTCGGGAGATGAGGAGAGCTTCGGTGTCCGCCGCCCAGCGCCGCAGTCTGCAATCTCCCTGGTTGCGGGGCTCTGCCCTGCCGTGGCCGAACGCTTCGGGAGCTCAGACCACGGTGGCAGGGAGGAAATGGTTGTTTATGGGTTTGGATGAAAGGCACCACATGAATGGATTTTTAAAAGTGGGTGGCGGCGAGTGGCGGCCGCAGCGGAGCGAGGGCTGATGGTGGGTGACATTTGCAAAACGGCATCCACAGTGCTAAATAAGATTGGTGATATGTGTGGAAAAACAGTGCCTTGTCAATATTTTGTCCATTTCTTTATAACAAAAAAAATGTGTAAGGATTGCTGTGGCTTTTGCTATCTCTTTGGGGATTAAGTGAAGATTAAAACTGGGCTTTTCTCTGTAGGAGAGGATAAGAAAGGAAAAAGAATAAAATGGTGGAAATCTAGTTTCCTTTCCAATGATTCTCTCCTATCGTAGCGCGCGCTCGCTGTGGAATGCTTTTGGCCATGTAGTGTTCTTGTTGGGCACCATAGCTGTTTTATTTCCCCTCTCCATTCTTTTCATTGATATATAGGAAATACTCCTACTGAGGAATCTAGTTGTAAAACCTTATCTCACCTATTACATCAGAAGAAAATTGTTATAAAAACTGAACACCAAATGAAACAAAATTTTAAAAGGTGCTCATCGTAACACCTTCATTGTACCCATGCAGTACGGGTTCTGATACTTGTACTCGAGATGTTTAGGGCTAGGAGGACCCATAGGGATCCTCTAATGTCAACATCTCATTTTACCCATGAATAAGAAATGGAGACTTAGAGCAGTTAAGTGACTTGACACAATCAGTGTTAATTTGGTGAAACCTGGTGGGCATTTCCTTGCAACATTAGTAAAAAATAACTTTCTTCATTATTCTGTATGTATCTTTTCTTTCCAATATCCTTTTAAAGCGTGAAATATAGAATAGAATGTTACAGGTTGTATTCTTTAAAATGTTACATTTGTACTTTGGGAGGCTGAAATGGGAGGATTGCTTAAGCCCAGGAATTCAAGATCAGCCTGGGTAACATAGTGAGACCCCATCTCTATAAATATAAAAGTAAAATAAAATGGTATATTTGAACACTACACATTGAAGATAAA
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Task1_train_13178
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This genomic variant is located on Chromosome 9, within the LOC130002651, STXBP1 (ATAC-STARR-seq lymphoblastoid silent region 20307| syntaxin binding protein 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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CTGATATGTGCCAGCTGGCGAAGGAGGAAGCATGTGGCATTACCAGTGCATCCTAGGTCTCCCCATGTTTACACACTATCTCCTCCTCCAAATACACACAGGGGCTATCAATATGTTTCCTGGGCAAAAGGCAAGGCCCAGACATAGAGAGTTGACACATTAACGCCTCCTCTCTCTCTGAACCCATCTGAAGGTTCTGTTGGGGGTAGATTGGGGTGGTGGTGAGAAGATGGTCAAATCTGCTTGACTTGGGGCTGGCGACTGAAGTAGGACATGTAGCCTCTTGTCCTGGCTCAGCCACCACTGGCTTCTGTGACTTTGGAAAATTCCTCCTTAGTTCTCAGCAGGTTTTTTGTTTTTTGTTTTTTGTTTTTGCTCAGTATAAGATAATGGTTCAGAATTCAGATCCTAGAATTGGATCTTTCCTTTGTCATTTACTAATAAAGCACTTATCCACTCTGAATCTCAATTCTTCATCTGTAAAATATTATTATGCATCTTAATAATATGAAGATTAAAAACCTAGCTCAAATGTATTCCAAATATTTAATGAATGTTCACTGATTTTTACTACTACTAGCTCTCTTATTCTTTTTTATTTTTAATTGGCTCAATTTGTGTTACTTTGAAGCCAAAAGCAAGCCCTCCCCCATATTTCAAAAGTAGTATCTGAGACCATCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTGGCCAGGCGATGGTGGCGGGCGCCTGTAATCCCAGCTACTCTGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGAGCCACTGAACTCCAGCCTGGGCGAAAGTGCGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAAGAAAAGCAGTATCTCCTATTAACAAAGAAAGTTGAGCAAAAACTGACCTGGGACCGCTTTAATAAATACGGACTCCAGGAAGGAGATACTGAGACCAGAGTCGGTCCCACAGTATATTCGTATCAGATTTGGGGCTTAGAAACTTCTAAACTCTGAGCGCCCATAAGCAAGATGAGATTCTGCCTTGTACATGGTCGTAGCTCCAGGGGACAGAATAACGGCTTACACATAAAAGTGACAGAATACTGAACATTAGCTAACGGATGCTACGCTGCCTGAAGGTAAGTCTAGTGCTATTTCCAATATCTCCGAGACTTGGTTTTTCCACCGGAAAATGGAGATTAAAAATAATGCCCATAGGTATGAGCTAAGAGGAGTGTAAACAAAACAAAATAAAAAGCAATGCCCAGTGATTGGAGGATTTGATGAGATGATGCCCGCGAGGTGCTTGGCACGGAGTTTGACACAAGAACTCAGTGTTGGTGAATGCACGAATGCAGGTACCCAGCGACAGGGAGGTGCTGTGGGTGGATTCACCCTGGCTTCGCTGCGGCTGGGAGTGGGCGCTGCTAGTAAGAGATCTCGCCTCCAAGCTCCTTCCGTGGGCAGGAAAAAACGGAAGCTCCCAGAAAGAGGAAAGACAGGACCCGAGCGGGGTTTCAGGCAGATGGAGCGCGTCGGTAGCCTGTGGCCAGGGATCCCAGCACCGACGGGAAAGAGGAGGCCTGGGTACCCTGCGCCCCGGGCGCGCGCGGCGCGTGAGGTGAGGGGGAGGGCGCGGCTCCGCACCAGCCAGCGGCCGCCTGGCGCCCAGCCGCATCTCGGGGGGCGGGGTTGAGCCTCCGGGCCGCAGTGCGATTGGCGGAGGCGAGTGGGTGACGCCAACGGCCGGCGCGAGGCCCCGCCCCCGGCTTGCCCCGCCCCCGCGCGCGCCGGCGGCGGGGCAGCCTCGCTCTGGCTCGCGCCGCGCCCCCGCGCCCAGTCCGCGCGTCAGTCGGTCCCTAGCGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACCTGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAGACTCGCGCAGCGCCATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAGTAAGTGGAGCCGGGATCCTTCCAGCAGGCGGGGACTGCGGCTCCCGAGGAGCCCCGCGCGGCCCCTGCCGGCAGCGCCCAGGCCTCCGAGCGGGCTGCCGGCCCTGCGCCCCGGGCCTGAGGCTCCTGGTCCGTGGGGTCCCGTTATTCAGGCGCCGCCCGCGCGAGAGGAAGGCTTGCCCCGCTCTCCCCTCCCTCACCTCATGTTTCACCCCAGCCCTCCCCCTGCAGCCCGCCCTCCTCCCTCGCCATCCTCCTTCCTCGCGGTCCCTGTCTCCCTTTTCCCTGCATCCTCCTTCCCCTCCATCCCTCCCTCCCTCTCTTCCCTTCACCCCCATTTCTCTCCCCTCGCCCCATCCTTCCCCCTTCCTCCACCCCTCCCTCACCCCACTCTCTCCATCCCGCCTCTCCCCCATCCCACCCTCCTTCCCCCTCTTTCACCCCCAACACCCGTCCCTCTCCTTCATCTCGCCTCTACCCCCTGCAGCCCGTCACCCTCCCCCGCACCCCCATCCTCACCCCCGTTACCTTCCCCTCAGTCCCCTCTCCCCTTCCTCGTCTTTATTCCTTGAGCGCCCAGACTCCGCTCCCTTTTCCTGCAGTCCCTCCTCCTCCCCACCCTCCTGGGTGAGTCGTGACGAGCGAGATCCTGGCCTGCGTCCTCCTCCCCCGCCCCGGGCCGCGCCGCGGTCCCTGGCTGCGAGACCCACCTGGGAGACTAGGCGCAGTGGCTTGGCCTGGGGAGGAGACGCCTGTTTTCCGGAGGCTGAGCTCTGCTGGGCCGGGGCCACCTCACTCCTCCCCTTCCCGGGGCTTGGCTTCCAGGGCGGGGACTTATCAGGATCCTGAACCCCTGAAATCACTCGGGAGATGAGGAGAGCTTCGGTGTCCGCCGCCCAGCGCCGCAGTCTGCAATCTCCCTGGTTGCGGGGCTCTGCCCTGCCGTGGCCGAACGCTTCGGGAGCTCAGACCACGGTGGCAGGGAGGAAATGGTTGTTTATGGGTTTGGATGAAAGGCACCACATGAATGGATTTTTAAAAGTGGGTGGCGGCGAGTGGCGGCCGCAGCGGAGCGAGGGCTGATGGTGGGTGACATTTGCAAAACGGCATCCACAGTGCTAAATAAGATTGGTGATATGTGTGGAAAAACAGTGCCTTGTCAATATTTTGTCCATTTCTTTATAACAAAAAAAATGTGTAAGGATTGCTGTGGCTTTTGCTATCTCTTTGGGGATTAAGTGAAGATTAAAACTGGGCTTTTCTCTGTAGGAGAGGATAAGAAAGGAAAAAGAATAAAATGGTGGAAATCTAGTTTCCTTTCCAATGATTCTCTCCTATCGTAGCGCGCGCTCGCTGTGGAATGCTTTTGGCCATGTAGTGTTCTTGTTGGGCACCATAGCTGTTTTATTTCCCCTCTCCATTCTTTTCATTGATATATAGGAAATACTCCTACTGAGGAATCTAGTTGTAAAACCTTATCTCACCTATTACATCAGAAGAAAATTGTTATAAAAACTGAACACCAAATGAAACAAAATTTTAAAAGGTGCTCATCGTAACACCTTCATTGTACCCATGCAGTACGGGTTCTGATACTTGTACTCGAGATGTTTAGGGCTAGGAGGACCCATAGGGATCCTCTAATGTCAACATCTCATTTTACCCATGAATAAGAAATGGAGACTTAGAGCAGTTAAGTGACTTGACACAATCAGTGTTAATTTGGTGAAACCTGGTGGGCATTTCCTTGCAACATTAGTAAAAAATAACTTTCTTCATTATTCTGTATGTATCTTTTCTTTCCAATATCCTTTTAAAGCGTGAAATATAGAATAGAATGTTACAGGTTGTATTCTTTAAAATGTTACATTTGTACTTTGGGAGGCTGAAATGGGAGGATTGCTTAAGCCCAGGAATTCAAGATCAGCCTGGGTAACATAGTGAGACCCCATCTCTATAAATATAAAAGTAAAATAAAATGGTATATTTGAACACTACACATTGAAGATAAA
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CTGATATGTGCCAGCTGGCGAAGGAGGAAGCATGTGGCATTACCAGTGCATCCTAGGTCTCCCCATGTTTACACACTATCTCCTCCTCCAAATACACACAGGGGCTATCAATATGTTTCCTGGGCAAAAGGCAAGGCCCAGACATAGAGAGTTGACACATTAACGCCTCCTCTCTCTCTGAACCCATCTGAAGGTTCTGTTGGGGGTAGATTGGGGTGGTGGTGAGAAGATGGTCAAATCTGCTTGACTTGGGGCTGGCGACTGAAGTAGGACATGTAGCCTCTTGTCCTGGCTCAGCCACCACTGGCTTCTGTGACTTTGGAAAATTCCTCCTTAGTTCTCAGCAGGTTTTTTGTTTTTTGTTTTTTGTTTTTGCTCAGTATAAGATAATGGTTCAGAATTCAGATCCTAGAATTGGATCTTTCCTTTGTCATTTACTAATAAAGCACTTATCCACTCTGAATCTCAATTCTTCATCTGTAAAATATTATTATGCATCTTAATAATATGAAGATTAAAAACCTAGCTCAAATGTATTCCAAATATTTAATGAATGTTCACTGATTTTTACTACTACTAGCTCTCTTATTCTTTTTTATTTTTAATTGGCTCAATTTGTGTTACTTTGAAGCCAAAAGCAAGCCCTCCCCCATATTTCAAAAGTAGTATCTGAGACCATCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTGGCCAGGCGATGGTGGCGGGCGCCTGTAATCCCAGCTACTCTGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGAGCCACTGAACTCCAGCCTGGGCGAAAGTGCGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAAAGAAAAGCAGTATCTCCTATTAACAAAGAAAGTTGAGCAAAAACTGACCTGGGACCGCTTTAATAAATACGGACTCCAGGAAGGAGATACTGAGACCAGAGTCGGTCCCACAGTATATTCGTATCAGATTTGGGGCTTAGAAACTTCTAAACTCTGAGCGCCCATAAGCAAGATGAGATTCTGCCTTGTACATGGTCGTAGCTCCAGGGGACAGAATAACGGCTTACACATAAAAGTGACAGAATACTGAACATTAGCTAACGGATGCTACGCTGCCTGAAGGTAAGTCTAGTGCTATTTCCAATATCTCCGAGACTTGGTTTTTCCACCGGAAAATGGAGATTAAAAATAATGCCCATAGGTATGAGCTAAGAGGAGTGTAAACAAAACAAAATAAAAAGCAATGCCCAGTGATTGGAGGATTTGATGAGATGATGCCCGCGAGGTGCTTGGCACGGAGTTTGACACAAGAACTCAGTGTTGGTGAATGCACGAATGCAGGTACCCAGCGACAGGGAGGTGCTGTGGGTGGATTCACCCTGGCTTCGCTGCGGCTGGGAGTGGGCGCTGCTAGTAAGAGATCTCGCCTCCAAGCTCCTTCCGTGGGCAGGAAAAAACGGAAGCTCCCAGAAAGAGGAAAGACAGGACCCGAGCGGGGTTTCAGGCAGATGGAGCGCGTCGGTAGCCTGTGGCCAGGGATCCCAGCACCGACGGGAAAGAGGAGGCCTGGGTACCCTGCGCCCCGGGCGCGCGCGGCGCGTGAGGTGAGGGGGAGGGCGCGGCTCCGCACCAGCCAGCGGCCGCCTGGCGCCCAGCCGCATCTCGGGGGGCGGGGTTGAGCCTCCGGGCCGCAGTGCGATTGGCGGAGGCGAGTGGGTGACGCCAACGGCCGGCGCGAGGCCCCGCCCCCGGCTTGCCCCGCCCCCGCGCGCGCCGGCGGCGGGGCAGCCTCGCTCTGGCTCGCGCCGCGCCCCCGCGCCCAGTCCGCGCGTCAGTCGGTCCCTAGCGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACCTGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAGACTCGCGCAGCGCCAGGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAGTAAGTGGAGCCGGGATCCTTCCAGCAGGCGGGGACTGCGGCTCCCGAGGAGCCCCGCGCGGCCCCTGCCGGCAGCGCCCAGGCCTCCGAGCGGGCTGCCGGCCCTGCGCCCCGGGCCTGAGGCTCCTGGTCCGTGGGGTCCCGTTATTCAGGCGCCGCCCGCGCGAGAGGAAGGCTTGCCCCGCTCTCCCCTCCCTCACCTCATGTTTCACCCCAGCCCTCCCCCTGCAGCCCGCCCTCCTCCCTCGCCATCCTCCTTCCTCGCGGTCCCTGTCTCCCTTTTCCCTGCATCCTCCTTCCCCTCCATCCCTCCCTCCCTCTCTTCCCTTCACCCCCATTTCTCTCCCCTCGCCCCATCCTTCCCCCTTCCTCCACCCCTCCCTCACCCCACTCTCTCCATCCCGCCTCTCCCCCATCCCACCCTCCTTCCCCCTCTTTCACCCCCAACACCCGTCCCTCTCCTTCATCTCGCCTCTACCCCCTGCAGCCCGTCACCCTCCCCCGCACCCCCATCCTCACCCCCGTTACCTTCCCCTCAGTCCCCTCTCCCCTTCCTCGTCTTTATTCCTTGAGCGCCCAGACTCCGCTCCCTTTTCCTGCAGTCCCTCCTCCTCCCCACCCTCCTGGGTGAGTCGTGACGAGCGAGATCCTGGCCTGCGTCCTCCTCCCCCGCCCCGGGCCGCGCCGCGGTCCCTGGCTGCGAGACCCACCTGGGAGACTAGGCGCAGTGGCTTGGCCTGGGGAGGAGACGCCTGTTTTCCGGAGGCTGAGCTCTGCTGGGCCGGGGCCACCTCACTCCTCCCCTTCCCGGGGCTTGGCTTCCAGGGCGGGGACTTATCAGGATCCTGAACCCCTGAAATCACTCGGGAGATGAGGAGAGCTTCGGTGTCCGCCGCCCAGCGCCGCAGTCTGCAATCTCCCTGGTTGCGGGGCTCTGCCCTGCCGTGGCCGAACGCTTCGGGAGCTCAGACCACGGTGGCAGGGAGGAAATGGTTGTTTATGGGTTTGGATGAAAGGCACCACATGAATGGATTTTTAAAAGTGGGTGGCGGCGAGTGGCGGCCGCAGCGGAGCGAGGGCTGATGGTGGGTGACATTTGCAAAACGGCATCCACAGTGCTAAATAAGATTGGTGATATGTGTGGAAAAACAGTGCCTTGTCAATATTTTGTCCATTTCTTTATAACAAAAAAAATGTGTAAGGATTGCTGTGGCTTTTGCTATCTCTTTGGGGATTAAGTGAAGATTAAAACTGGGCTTTTCTCTGTAGGAGAGGATAAGAAAGGAAAAAGAATAAAATGGTGGAAATCTAGTTTCCTTTCCAATGATTCTCTCCTATCGTAGCGCGCGCTCGCTGTGGAATGCTTTTGGCCATGTAGTGTTCTTGTTGGGCACCATAGCTGTTTTATTTCCCCTCTCCATTCTTTTCATTGATATATAGGAAATACTCCTACTGAGGAATCTAGTTGTAAAACCTTATCTCACCTATTACATCAGAAGAAAATTGTTATAAAAACTGAACACCAAATGAAACAAAATTTTAAAAGGTGCTCATCGTAACACCTTCATTGTACCCATGCAGTACGGGTTCTGATACTTGTACTCGAGATGTTTAGGGCTAGGAGGACCCATAGGGATCCTCTAATGTCAACATCTCATTTTACCCATGAATAAGAAATGGAGACTTAGAGCAGTTAAGTGACTTGACACAATCAGTGTTAATTTGGTGAAACCTGGTGGGCATTTCCTTGCAACATTAGTAAAAAATAACTTTCTTCATTATTCTGTATGTATCTTTTCTTTCCAATATCCTTTTAAAGCGTGAAATATAGAATAGAATGTTACAGGTTGTATTCTTTAAAATGTTACATTTGTACTTTGGGAGGCTGAAATGGGAGGATTGCTTAAGCCCAGGAATTCAAGATCAGCCTGGGTAACATAGTGAGACCCCATCTCTATAAATATAAAAGTAAAATAAAATGGTATATTTGAACACTACACATTGAAGATAAA
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Task1_train_13179
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This variant affects the gene STXBP1 (syntaxin binding protein 1) found on Chromosome 9. 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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CTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTGGCTCTGGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGGTATAACAGGTGCACACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGTAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAGAATTTTTCCTTTATACTTTTCTGTGTTTTCCAAGTTTACTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGATTACTGTGATTCAGTGATTACTGAAGATAGTCAAAAGCAGATTTAGGAACCATCGAGCCCTAGAGAATTGTCTAACTGTCTGAACCATACATGCTGACAACAGCTCTTGCCCTTCAAGTTGCTCCAGGTGTGTGTTACTCAGGTTTACAGAGTAGCAAGAGTGGACTTTCCTATGGAGCCTCCACAGCTGGTCAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGTCTAGGTAACGGGGCTCATTAAAATGGTGATTTGGGGATAAGAGTGCTCTGGAGATGTGCTCAGGGTTTTGAACATTTCACAACTGCTCCTCACATCTGTTTTTAGAGCTTGAGGAGGGCTCATGTGGCCTGAGGCATTGTCACAGCCTTTACCCACTTAACTTTAGGCAGTGGTTCTCAAATCTGAGCCCTTCTGGGGGTTCATGAGGTCAAAACTATCTTCATACTAAGACCAAGATGTGGTTTGCCTCTTCATTCTCATTCTCTCACGGGGCACAGCGAAGTTTCCCAGATGTTATATGTTTCAGGACATACTGGCTGCAGAAGCAGATGGGAGAAGCCAGAAGTAGACAGGAGAATGTCTATGAGGCCAGACATTAAGGAGGGTTGCAGAAATGTAAAACAATCCCAGCTGTCTCCCTAAAAATGTTTTATTATGACAAATATATTTATTTTTCATTAAAATGCAATTAATGTAACATATGAGTTTATTATCTTAAATGAATTAATATTGTTAAAAATTTCTCAGTTTAGTTTCCAATACAATAATTAAGAGCGTAAAGAAGTTATGAGACCAAAAAGTTTGAAAACCACTGAATTAAGGAGACAGGAAGAGAACTTTCTTTTTTTTTTTCAATTTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGAAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCAGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTAACTTGTTCATCACTGAATCCCTAGCACCAATTACAGGTGTGAGCCACCATGCCCGGCTGAGAGCTATTTTTATGGTGGGTTGGTTATGGCTCAGTAAACCAGTTGGTGAATTGCATGATTCAGAAACACAAAGCCTAAGGTGGGAAATGACCTTATCTAACAGAGAGGTGTAGACGTCTTTGATATTACATTAATTTCCTCTCTCTCTCTCTCTTTCTCCTTTTTTAGAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAGGTGAGTTCACATGGAAAAATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCCTTTTGGAGTCTGATGCGGTAAGCTGAGCGAGAATCACAGCAGATGCCATGAAGCCCATAC
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CTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTGGCTCTGGGTCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTTCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGATGGTATAACAGGTGCACACCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGTAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCAGAATTTTTCCTTTATACTTTTCTGTGTTTTCCAAGTTTACTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGATTACTGTGATTCAGTGATTACTGAAGATAGTCAAAAGCAGATTTAGGAACCATCGAGCCCTAGAGAATTGTCTAACTGTCTGAACCATACATGCTGACAACAGCTCTTGCCCTTCAAGTTGCTCCAGGTGTGTGTTACTCAGGTTTACAGAGTAGCAAGAGTGGACTTTCCTATGGAGCCTCCACAGCTGGTCAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGTCTAGGTAACGGGGCTCATTAAAATGGTGATTTGGGGATAAGAGTGCTCTGGAGATGTGCTCAGGGTTTTGAACATTTCACAACTGCTCCTCACATCTGTTTTTAGAGCTTGAGGAGGGCTCATGTGGCCTGAGGCATTGTCACAGCCTTTACCCACTTAACTTTAGGCAGTGGTTCTCAAATCTGAGCCCTTCTGGGGGTTCATGAGGTCAAAACTATCTTCATACTAAGACCAAGATGTGGTTTGCCTCTTCATTCTCATTCTCTCACGGGGCACAGCGAAGTTTCCCAGATGTTATATGTTTCAGGACATACTGGCTGCAGAAGCAGATGGGAGAAGCCAGAAGTAGACAGGAGAATGTCTATGAGGCCAGACATTAAGGAGGGTTGCAGAAATGTAAAACAATCCCAGCTGTCTCCCTAAAAATGTTTTATTATGACAAATATATTTATTTTTCATTAAAATGCAATTAATGTAACATATGAGTTTATTATCTTAAATGAATTAATATTGTTAAAAATTTCTCAGTTTAGTTTCCAATACAATAATTAAGAGCGTAAAGAAGTTATGAGACCAAAAAGTTTGAAAACCACTGAATTAAGGAGACAGGAAGAGAACTTTCTTTTTTTTTTTCAATTTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGAAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCAGCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCCCCATGTTGGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCCCTCAGCCTCCCAAAGTGCTAACTTGTTCATCACTGAATCCCTAGCACCAATTACAGGTGTGAGCCACCATGCCCGGCTGAGAGCTATTTTTATGGTGGGTTGGTTATGGCTCAGTAAACCAGTTGGTGAATTGCATGATTCAGAAACACAAAGCCTAAGGTGGGAAATGACCTTATCTAACAGAGAGGTGTAGACGTCTTTGATATTACATTAATTTCCTCTCTCTCTCTCTCTTTCTCCTTTTTTAGAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAAGGGAAGGTGAGTAGAAAGTACAGTTAATGGGCTTAAGGTGAGTTCACATGGAAAAATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCCTTTTGGAGTCTGATGCGGTAAGCTGAGCGAGAATCACAGCAGATGCCATGAAGCCCATAC
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Task1_train_13180
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A genetic alteration is present in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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AATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCCTTTTGGAGTCTGATGCGGTAAGCTGAGCGAGAATCACAGCAGATGCCATGAAGCCCATACGCTGTTCTCTTTCCTTGCAGGTGCTGGTGGTGGATCAGTTAAGCATGAGGATGCTGTCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGAGTGAGCATGCGCTCTGCACTTGAGCAGTGCTGGAGCCTTCTCTCTGTGGCGGGCTTAGCTCTTTCCTATTCATTATTATCTCCTTTGATTTTAGATTCTTCCAGCAACCTGTGTGCTAAGACCAGAAGCTCCTGAGAGGCGCAAGGCTATCTTGTTCATCACTGAATCCCTAGCACCAAATCCAGGGCTAGATGCTCATTCAATGTCTGTTAAAGGAATGCCAAAAGAAGGGTTAAATCAAGAAAGAAAAGGCAGCCCACCCAATAGAAAAAAGTTCTGAGCAGGCACTTAACAAAAGAAGAAATCCAAATGGCCAATCAATCTATGAAAATTGTCCACTGTCATTAGTGGTCAGGGAAATGCAATTCAAACCAGAGTGAGATGCCGATATAGATTCAAAATATTAGAATATTTAATCTCTGATAATGCCAAGTGACGGTGAGGAGGTAGAAAAATGGAAACTCCTACGTGATGGAATGTCTGCTGGTGTAGCCCCTTTGAAAACCACTTGGCAGTGTCTAGTAAAGTTGAAGGTATGCATGTCCTGTGAGCCAGCAAGTCTGTGGTCAGGTGTGTGTCCTAGACAACCTCAGGTATGTGTGCCCAGGATACATGTGCAGGAATACATGTGCAGTGTTGCTCATAGGTTCCCCAAGTGGAAAATAACCAAAACGTCCATCAAGTGTAGAATGGTTAAATCAGTTGCGTGCAATTACACAGTAGAATACTCTACAGGGATGAAAATGGGCGAGCCCTGAGCGCTCACAGTAACATGAATGCATCTGATGAACAACGGTGAGCAAAGACAGCAAGACACGAAAGACCACTGATAGTGAGCCTTCATTCCACAGAGTTCAGACCGCAGAGCTCAGCTGTGTTGTTTTAAAATGCAGATGTAAGGGGTAAAACCTCAAGAGAAGAGCTCACCATTCAAGGGAGGATAATGATTCTGTTTGCGGGGAAGAGAGGAAATGGTGTTGATAGAGGGGAATGTGAGCTGGAGCCAGGGCACTTTTGTGGTGCTGATTGGGTTTCGTTTCTTAACTGGGGTAGCGCTTATTTAGACATTTGCCTTATGGTTATTTGTATGTTTATGTTTTATTCACGCTTTGGAATGTGTGCTATAACTTTTGGTGAATAATAAGGAGCAGGATTGCTGGATCACATGGTAAGTATGCTTAGTTTTGTAAGATACTGCCAAACCATTTTTCAAAGTGGCTGACCATTTTGCATTCCCAGCAGTAGTGAATGAGAATTCCTGTTGCTCCACATCCTTACCAGCATTTGGAGTTGTCAGTGTTCTGAATTTTGAGCATTCTACCAGCTGTGTGGTGGTATGGTATTGTTGTTTTAATTTGCATTTCCCTGATGACCTAGGATGTGGAGCATCTTTTCACATGCTTATTTGCCATCTGTATATTGTTTTTTGGTACAGTGTCTGTAAGGTCTTTGGCCCGTTTTTTAATTGGGTTATTTGTTTTCTTATTGTTGAATTTTAAGGGATATTTGTATATTTTGGATAACAGTTCTTTATCAGATATGTCTTTTGGAAATATTTGCCCTCAGTCTGTGGCTTGTCTTTTCATTCTCTTGATGGCATCTTGCACAGAGCAGTACTTTTTAATTTTAATGAAGTCCAGCTTATCAATTCTTGTTTTCATGGATTGTCACTTTGGTGTCATATCTAAAAAGTCATTGCCAAATCCAAGGACACCTAGCTTTTCTTTTATGTAATCCTCTAGGAATTTTATAATTTCGCATTTTACATTTAGGTCTGTGATCCATTTTGAGTTAACATTTCTAAAGGGTATAATGTATGTGTCTGTATTCATTTTGGTTGCACGTGGATGTGATTCCTTCATTTTTAAAAAACAGATCCAGTATATCTATCAGCAGAAGCACAGTCCTGTAAATGGCATACACAGTTTTTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTTGCTGTCTCCCAAGCTGGAGGGCAGTGGCGCAATCTCAGC
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AATCAGAAGGGGATGGAGTTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGTTTGGGCTCAAAGCCCTCATCTGGTCTATCCTCATTGAACTGTAACTACATAAGACAAAAATAGTAAGCTCGTTTAATCACGTAACATTGACAGGAGTGCTGGAAACTATAGTGTACTTGAAACAAGTATTTAAGCCAATCAAACTGAGAGTGGGCCGGGTTCCTGGAATGGGTGGTACAGGAGTGGCACCTGCTGCCCCCTATGCATGAAGTCAGCATTTTAAGGACTGCTTGGTTGTCTAAGGCTGAGAATTATACTGGCCAGAAGAGTGTGCAGTTTTACTTGATTTTTTCTGCATGTTGCTGAAGAATTTATACCAACCTTTCTTGCCATCAAGGTTTCCTGCAGTCAAAAGCCCATGCAGTTTCAAGTGCATTGGGCCTAGGAACAACAGAGCTGATTAGTACAGGAGGATTTTGAAGTCTCACCCGGGGCCTTTGTTTTAACCAGCACATCTGTCCTCGCCACCCAGAAGGGGAGGCCGTGCAGTGGGCCTCCCCACCGCATACCTTTAGCATACCTCTTTAGCATACCTTTCTCACTTACCCTTCCCATCAGTGACGGGCTTGTAGACATGTGAATTTTAAACTAATCTTGAGGAAGCTGCCTTATATAATAAAAACTAATTGACCCCTGTACTGCAGCAGAAAGCTTTCTCATCCACACTATCTGCCCTGATGTGTCTTCCTCCTGTTGCCCCCTTCTCAGTTTATAGCATTACAAAAAGAGAGGATAAATAGCCTTGTTTTAACTGCCAGCTTCCTCTCCACTGTGGGCTGAATGAAGATAAGAAAGGTTAGCTGAAGAGTTGCAGGTCTGAAGCTTTTAGGCCAGGACTGGAACGTTCTTGTTCTTCCAGCCTAGACTAAGGTACACTATGTCCCAGCTGACATGTGTGTTAGTGGCACAGTTCTGATGATGCTTTTCATCAAGTCCCCACATGCCAGACCACATGTGCAGGCGCTAGTGTTCACTCTCCCCTTAAACACAAGTGCATGCCGTGAAAAAGTACTCACTAATATGATTATGTCTGAATGTTGGAGCTATAGATGATATTTCCTTTATTTATTTATTTATTTATTTATTTATTTATTATTATTATTATTATTATTATGAGATGGGATCTTGCTGTTGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCGACCTCCGTTTCCTGGGTTCAAACATTCTCCTGCCTCAGCCTCTCACGTAGCTGGGATTACAGGTGTGAGTCACCACACCTGGCTAATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCATGCCCGACTGATTTTTTTTCCTTTTTTAAATGGGTATTTACTTTGTCATGGGAAATAAAAACTATTTTTTTTTAAGTTTATAAAATTACATCAGTGAGAGGAAACTCTAACTCCTAGAAAGTTAGGTTAGGGTATGGGAGGTACAAGTGAGCATGTGTCCCCGTGGGCTTCTGGTCCATAGGAAATATGGTTTCTTCTGTATTCTGTACTTCTGGAGCTCCTTTTGGAGTCTGATGCGGTAAGCTGAGCGAGAATCACAGCAGATGCCATGAAGCCCATACGCTGTTCTCTTTCCTTGCAGGTGCTGGTGGTGGATCAGTTAAGCATGAGGATGCGGTCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGAGTGAGCATGCGCTCTGCACTTGAGCAGTGCTGGAGCCTTCTCTCTGTGGCGGGCTTAGCTCTTTCCTATTCATTATTATCTCCTTTGATTTTAGATTCTTCCAGCAACCTGTGTGCTAAGACCAGAAGCTCCTGAGAGGCGCAAGGCTATCTTGTTCATCACTGAATCCCTAGCACCAAATCCAGGGCTAGATGCTCATTCAATGTCTGTTAAAGGAATGCCAAAAGAAGGGTTAAATCAAGAAAGAAAAGGCAGCCCACCCAATAGAAAAAAGTTCTGAGCAGGCACTTAACAAAAGAAGAAATCCAAATGGCCAATCAATCTATGAAAATTGTCCACTGTCATTAGTGGTCAGGGAAATGCAATTCAAACCAGAGTGAGATGCCGATATAGATTCAAAATATTAGAATATTTAATCTCTGATAATGCCAAGTGACGGTGAGGAGGTAGAAAAATGGAAACTCCTACGTGATGGAATGTCTGCTGGTGTAGCCCCTTTGAAAACCACTTGGCAGTGTCTAGTAAAGTTGAAGGTATGCATGTCCTGTGAGCCAGCAAGTCTGTGGTCAGGTGTGTGTCCTAGACAACCTCAGGTATGTGTGCCCAGGATACATGTGCAGGAATACATGTGCAGTGTTGCTCATAGGTTCCCCAAGTGGAAAATAACCAAAACGTCCATCAAGTGTAGAATGGTTAAATCAGTTGCGTGCAATTACACAGTAGAATACTCTACAGGGATGAAAATGGGCGAGCCCTGAGCGCTCACAGTAACATGAATGCATCTGATGAACAACGGTGAGCAAAGACAGCAAGACACGAAAGACCACTGATAGTGAGCCTTCATTCCACAGAGTTCAGACCGCAGAGCTCAGCTGTGTTGTTTTAAAATGCAGATGTAAGGGGTAAAACCTCAAGAGAAGAGCTCACCATTCAAGGGAGGATAATGATTCTGTTTGCGGGGAAGAGAGGAAATGGTGTTGATAGAGGGGAATGTGAGCTGGAGCCAGGGCACTTTTGTGGTGCTGATTGGGTTTCGTTTCTTAACTGGGGTAGCGCTTATTTAGACATTTGCCTTATGGTTATTTGTATGTTTATGTTTTATTCACGCTTTGGAATGTGTGCTATAACTTTTGGTGAATAATAAGGAGCAGGATTGCTGGATCACATGGTAAGTATGCTTAGTTTTGTAAGATACTGCCAAACCATTTTTCAAAGTGGCTGACCATTTTGCATTCCCAGCAGTAGTGAATGAGAATTCCTGTTGCTCCACATCCTTACCAGCATTTGGAGTTGTCAGTGTTCTGAATTTTGAGCATTCTACCAGCTGTGTGGTGGTATGGTATTGTTGTTTTAATTTGCATTTCCCTGATGACCTAGGATGTGGAGCATCTTTTCACATGCTTATTTGCCATCTGTATATTGTTTTTTGGTACAGTGTCTGTAAGGTCTTTGGCCCGTTTTTTAATTGGGTTATTTGTTTTCTTATTGTTGAATTTTAAGGGATATTTGTATATTTTGGATAACAGTTCTTTATCAGATATGTCTTTTGGAAATATTTGCCCTCAGTCTGTGGCTTGTCTTTTCATTCTCTTGATGGCATCTTGCACAGAGCAGTACTTTTTAATTTTAATGAAGTCCAGCTTATCAATTCTTGTTTTCATGGATTGTCACTTTGGTGTCATATCTAAAAAGTCATTGCCAAATCCAAGGACACCTAGCTTTTCTTTTATGTAATCCTCTAGGAATTTTATAATTTCGCATTTTACATTTAGGTCTGTGATCCATTTTGAGTTAACATTTCTAAAGGGTATAATGTATGTGTCTGTATTCATTTTGGTTGCACGTGGATGTGATTCCTTCATTTTTAAAAAACAGATCCAGTATATCTATCAGCAGAAGCACAGTCCTGTAAATGGCATACACAGTTTTTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTTGCTGTCTCCCAAGCTGGAGGGCAGTGGCGCAATCTCAGC
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Task1_train_13181
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Here is a mutation in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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ATCTGCTCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCTACTGTGCCCTGCCCCAAGTCAGTTTTAAGACTAGGCTTGCCCCTATTTTGAGTTTATGATGTTATTTTCTTCATTGAATTTTTGAAACTATTTTTTTCGTCTATCAAAGCAAAAACAGACAAAAAACACAAAAGTAAAGGAGAAAAACACTAAATGGAGCTAACAAGGATCTAAGAAAAGAGCAGTGACCTCCTGTCCTCCTATCTCCCATCCTCGGGGTCTATTACCCCAGAGGCAGCCACCTCGCCCTTCATTCTGGACATCTTTTTTATTTTTCTACATAAATGCTTGTTCTATTTTCTCTTGATTCAGTGATATTAGATATTATTAACTGACTTCCTGTGGGAGATGGGGATTCAGAGCTCTCCACTATACACAGACTCTTGCCTACCCCCAAAAGTGGTTTTTAAAAAATGTCCTTATGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGCTCACAAGGTCAGGAATTTGAGACCAGCCTGTCCAACAGAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAAGCATGGTCGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGTCTCAAAAAGAAAAAGAAAGAAAGAAGGAAAGAAAAAGTGTTCTTACTTAACAAAATTTAAAAGTTAGCAACCCTATGTTGAAGCTCTGAAACATTTTGGGGGGAGATATTAGTGGCCTATGAAATTAAACAAATCTATAACCACTGGTAAAGTAGATGTTTGGGGATTTTTGGTATTAATTTGAACATTATTTAAGGTGAAAGTCTTTATAAATATTCCAAGTCTTTATAAATGTTACAATCCTCTAAAGTGATGCTTTTATCTGCTTAAATGATCTGCATAGAAAGAATGGCACCTGTATAATTGCCTTGCTCTCTCAATGCCAGAGGACAGTAGGTAACACATTTTAAGCATTACCGGGTGATTGGTAAGATTCTCCCAAAAGCTGTTCTTTCCAGGTGAAGTCCCTGACATAACTGTAGAGGAAACAAGCAAACCAAAGCCTATGGTTTGTTTTAACCAAATAGAACATTTAATCTTTGCACTATTGAAGGAAGCAATATTGTATAGAGAATGTGGTTGGAATGCCCTCATTTGATATGCAGAGGAGAGCAATGAAACTATCCAGCTGTTGATAAATAAACCCAACATGGAAATTCCAAAGGAATTGGGATTATCTAGGGCAGATGAGACAAAGCTGAAGAAGAGGCAAAGGACCCATTCTTGACAGAATTAGATATCATTTTCCATTTTCTCTCAGAACAGATCAATGAATTTACTTAAACTGAAATGGGAAGTGAGAACTATCTAGTGTGAAGATTTCAGATTTTTCTTTGTTGTTGTTTTTGTCGTTGTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACTATCTTGGCTTACTGCAGCTTCCACCTCCCAGGTTCAATCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCA
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ATCTGCTCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCTACTGTGCCCTGCCCCAAGTCAGTTTTAAGACTAGGCTTGCCCCTATTTTGAGTTTATGATGTTATTTTCTTCATTGAATTTTTGAAACTATTTTTTTCGTCTATCAAAGCAAAAACAGACAAAAAACACAAAAGTAAAGGAGAAAAACACTAAATGGAGCTAACAAGGATCTAAGAAAAGAGCAGTGACCTCCTGTCCTCCTATCTCCCATCCTCGGGGTCTATTACCCCAGAGGCAGCCACCTCGCCCTTCATTCTGGACATCTTTTTTATTTTTCTACATAAATGCTTGTTCTATTTTCTCTTGATTCAGTGATATTAGATATTATTAACTGACTTCCTGTGGGAGATGGGGATTCAGAGCTCTCCACTATACACAGACTCTTGCCTACCCCCAAAAGTGGTTTTTAAAAAATGTCCTTATGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGCTCACAAGGTCAGGAATTTGAGACCAGCCTGTCCAACAGAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAAGCATGGTCGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGTCTCAAAAAGAAAAAGAAAGAAAGAAGGAAAGAAAAAGTGTTCTTACTTAACAAAATTTAAAAGTTAGCAACCCTATGTTGAAGCTCTGAAACATTTTGGGGGGAGATATTAGTGGCCTATGAAATTAAACAAATCTATAACCACTGGTAAAGTAGATGTTTGGGGATTTTTGGTATTAATTTGAACATTATTTAAGGTGAAAGTCTTTATAAATATTCCAAGTCTTTATAAATGTTACAATCCTCTAAAGTGATGCTTTTATCTGCTTAAATGATCTGCATAGAAAGAATGGCACCTGTATAATTGCCTTGCTCTCTCAATGCCAGAGGACAGTAGGTAACACATTTTAAGCATTACCGGGTGATTGGTAAGATTCTCCCAAAAGCTGTTCTTTCCAGGTGAAGTCCCTGACATAACTGTAGAGGAAACAAGCAAACCAAAGCCTATGGTTTGTTTTAACCAAATAGAACATTTAATCTTTGCACTATTGAAGGAAGCAATATTGTATAGAGAATGTGGTTGGAATGCCCTCATTTGATATGCAGAGGAGAGCAATGAAACTATCCAGCTGTTGATAAATAAACCCAACATGGAAATTCCAAAGGAATTGGGATTATCTAGGGCAGATGAGACAAAGCTGAAGAAGAGGCAAAGGACCCATTCTTGACAGAATTAGATATCATTTTCCATTTTCTCTCAGAACAGATCAATGAATTTACTTAAACTGAAATGGGAAGTGAGAACTATCTAGTGTGAAGATTTCAGATTTTTCTTTGTTGTTGTTTTTGTCGTTGTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACTATCTTGGCTTACTGCAGCTTCCACCTCCCAGGTTCAATCGATTCTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGAAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCA
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Task1_train_13182
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Gene STXBP1 (syntaxin binding protein 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Developmental and epileptic encephalopathy, 4
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GTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTA
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GTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGGTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTGCTCTGTTTAAGCATGCAATCCACAATGGGGTGGGGTCGGGGGTGGTGTTTATGCAGTGAGAAGTGATGAATGTATTAAGCGTTCTTAAACACAGCAGCTGTGCAGAAAACCAGAGCCTGTGTTCCGTGGCCCTGGATCATTCTAGTTTTCCCCCTTGCACTCCCTCTTCAGGTAGGACCCACTCTGTCTAATTAGCAGTCCACCTCCAGACTTTGGTATTTTATGCTTTCATTTTATTTTATCAATATCCAGTTACTGTTCACATTTACCTGTCTTATAATTTTGGAGGTTACTTCAAATCACTATCCAAACAAGGTCCAACTCCTTGCTTCTGGGTAATAGTTGTCTTAGGCATGTTTTCTTTTGTTTTGTTTTGTTGGTTTTGTTTTGTTTTTTGAGACGAAGTCTAGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCAGTGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCCCCCGCCACACCCAGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGACCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTA
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Task1_train_13183
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Gene STXBP1 (syntaxin binding protein 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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GTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAG
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GTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTGGGACTACAGGCACATGCCACCATGCCCAGCTAATTTTTGGTAGAGATGGAGATCTTGCTATGTTGCCCAGGCTAGTGGCAAACTCCTGAGCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGTTGTGAGCCACCATGCCAGCCTTAGGTGTCTTAGTCTATATAAATTTCCTCCAATTTTCACACTTTTTTTTTTCACTTTGAAAACTGGCTTACATATGAATTTCTACAGATGCAATTAAATTGCCAAAAGGTCATCAATATGAATCTCCTGGAAGGTTTCTGCCGGGTTTCCTTTTTTGTGGGTGTCTTCCTAACAACTAATTACAGTGGCTCCAAAGAACTGATACTGTCATTCCAGAATGAGCTAAGAAGGCCTTTGTTCATCTAAACTCTGAAATAGTACTAATTTTAAGTCCTCAGGACTTGGTTATGGCCAAACATGAGTGTTAGAATTATGCATCAAAAATCCCCTGATTTTGTGCAAGTGGCTTGAAGCCATTGGATTTAACTCAGTTCAGATACAGGTCCCATTTGGCTCTAGAATTGGATTCAGGTCCCTCTTTTTCCCCCCCATCCACAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTGTGAGTACAACCAAGAGCTGTCCCCAGTCCCATCAGGCAGGTTAGCATTTCTGTACAGCTGGGCTGAGCCAAAACTAAGGCAGGTCAAGAGGGAAGAAATGGGTTGTTACCATGCTTGTCCCGATCTGCTGGTTTCTCTTCAGAAGATAAATTGCATAAGAGACAAAAATAAGTGCACGCAAATACAAACCCACTAGATCATGCAGTCCTTCCTGCTGAAAAATAGCACACAAGCACCTCTTCTCAGGACTGACAGGCTTGGTGCTGAGAATGACCTTCCTGAGGCTTGGCATTTCATTATGTAGACTTCCAGTTAGCACTGTATGCTGTAGTATGTTTCCATCAATTTTTCAACTACAAAGATATTCCAATCCAGTAGTCTTTGTATTAGATAGAATCTGCATCATTACCCTAGAATTAGTTTTCTTATGTTTTGAGGATTTTATGCTCAGATCCTAGCGGAGAAGCAGAGGGAGATGAATTGACCTGGACAGCTACAGAGTATAAAACAGTAAGAATTCACCCAGAGATCTTCTCTCTAGGGATAAACTCCCACAGCACTCACCACTGAGAAAGTGGAAAGGATATAGCAGAAGAAGGATTTTGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGATCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGATATGACAGCAGGTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCAAGATCACGCCATTGCACTCCAGTCTGGGTGACAGAATGAGACTCCATCCAAAAAAAAAAAAAAATCCTGATAAAATGAAGAGCCCACTGTACATGTGCAGCTGTTAAATGAACCAGCAAATGGACAGGAAAGCCAACTGTCTTTTGTCATACTTGCAGCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCAGTATGAATCCCAGGTGAGCCTGAGTAGGGGGTGCAAAGGAAATCTGCATCCTGTCTTATTCTGAGAGGGTGGGGTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAG
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Task1_train_13184
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A mutation in STXBP1 (syntaxin binding protein 1), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Inborn genetic diseases
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GTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCT
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GTGGGACCTACTAAAGAGTTGAGGAGGGAAGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTATGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCT
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Task1_train_13185
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This alteration occurs within gene STXBP1 (syntaxin binding protein 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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AGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACA
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AGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGTGGTATCGGGGGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACA
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Task1_train_13186
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Consider a variant on Chromosome 9 in gene STXBP1 (syntaxin binding protein 1). Determine its clinical classification and disease relevance.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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AGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACA
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AGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGTGGTATCGGGGGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACA
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Task1_train_13187
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Here is a variant affecting STXBP1 (syntaxin binding protein 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Neurodevelopmental delay
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AGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACA
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AGGTACCATGCTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGTGGTATCGGGGGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACA
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Task1_train_13188
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Consider a variant on Chromosome 9 in gene STXBP1 (syntaxin binding protein 1). Determine its clinical classification and disease relevance.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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CTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGA
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CTCTGAATTGCCAAATGACAGGTTAGAAGTGGATGTTTACTGAATGGAAATAGTATTCCATAGGGCCTGCCCCCTGCCCTCATCTTACTCTCCAGTTGTTTCTGACTTTGCTTCAGCCTTGTGCCTTTCTTTGTGTGCATTTCATCCTTGCTCTCAGTGTTCACTCCTGTCGGCCGACTCCTTGAATAACCACTAAGTAGCCAATCAGAAACGAGCTTGGAAGGAGAGCGAGGGTGGGGAGCAGAAGCATCCCATCTGCTGCGAAGGAGACTGTTTTTTACGTGGAGATAACCTCAGCTTGTCATGTGCTGAGAGAGCAGATGGCAGCCTTCGTCATTAGCCGTTAACACTTCAGGTGCCAAATGCCAGGCCCATAAAGCACTCCCTTGGAAACAAACAAAATTATTAAACAAATAAAGGTGAAGCTGATTGTGAGAGAACAGACACAACTTGTCTCGGTATTTTGAGAGTTGTTAAAATGTCTTCTCTTACCAGACAAGGAAACAAAAACCACAGGACTTTGATGCATTTTACGGAGCTAAAAGATGATTGTGGCATATTGGATCTTTACAGATCAGCTTCGAGACACCAGAGAGTGACCTATTCTTAGAGAAGGAGAGATGCATAATATATAGTGTGAACATTTAAAAACAGGCTTCCTTCTCACTTGGCCTAAAGCCTGTCACCCGCTTGGGGGAAGGAATTTTTTTTTCTTCTGTGTGTTCCATCCCCACCTGGATAGAACAAAATCCAGCTTTAGCATATTGAACAATCTTATATTTCAGAAATTTTAAGAAAGTAAACTATTTTTCGAATACCATTTTTTAAGATTAAGGTAGTTTATATAAACGAGAATTTAAGAGAATACTGATAACTGGAAGACTCAGTCATTTAAGAGAGAATCTTCAACTTCTAGCATACTCCAAAAAAAAAAAAAGAAACAGAAAAAGAAGAGACAAATACGGCCAGGCATGATGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTTTAACACGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTAGCGGGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGACCCTGCAGTGAGCCGAGATCATGCCACTGCACCCCAGCCTGGGCAACAGAGCAAGATTCTATCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGACAAATACTTAGAACATGCTACTGAAGATAAGGTATTATTAAATCCATAAATAGCTCCTTTATTTGCCCACAGTCACAGCACAGTATCTGGCTTGTCTCTTATTTATTGAAACTAAGCTTACAATTTCCAGTGTAGTCTCACACTAATCCCTTCTGCTCTCCTCCTGGCCTTGTCACTGTTCTCCAGGCACCCTAGGTACACACCCGCCCAAGGTCCTTGGCACTGCCTGTTCCCTCCATGTGGAAGTCCCCTGTAAACATCCCACCTTCAAGCCCTTGCTCAGATGTTACCTTCTCAGCAAGTCCTGGTGTCCTCCCTGTCCAGCCCTCCTGGACATCCTCCCCTGCTCTGATATTTTCTCATATACTTGCCAGTTTCTCAGGACCACACAATTCACTTTTCATTATGTTTATTGTCTGCTTTCTCCTACTAGATTGCAAACTCCTTGAGGACATGGATGTTTTGGTCACTAATAGTTCCCAAGTGTTTAGCACATGGGCACATGGTAGGCACCCAGTACATATTTGTGGAAGAAACGGGAACATATTCTGTAGACTCACTGCCAGGGTCAGAGAATACTCTGATAGTTCACAATATGTATTAATACTTTTTCTCCTCCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGTGTAAGGCAGTGCACCAGTCTGCTGGAGTGGCCTCCCGTGTGTCCCCCAAGTGAGGAGCTGGCCTGGACTCCTCCTCCGGCCTTAAGGTTCCTCTGACAGTTGTCTCAAGAAGATCAGGATTTGAGCATCTCTTACTTCAAATTACTCTTCCAGTGGTTTTGTTATCTTCTCAATGTTATAGTGAAATATAATAATACATGCAGAAAAAAGCATAAATCAACTATTGAATAACGAAAATGTGAACCTCTATGTAACTGCAACTCAGGCTGCCTACCGTTTTTAATTTCTTTCTAATCTTTAAAAACAAATACTATCTTTACTAAAGATGTTTCAGAGTAAGATAAAATACAAAGAGAGTAATTCTCCAAAGGACATGTTCCTCAGATTTTATCAAGCCACGCATTTCTCACTTGCTTGCTGAGTGCTGGGGGCACCTGAAGCTGAAGACCCAGCCCATGATCAGGGAGGATGGGTGGGATGTGCCTTCCAGCGTGTATGTGCATGAGAGATGCACCCCTGCAGGCTCGACCCTGCGAGATAGGACAGGCCAAGTGCTGGGGACAGCCACAGTAGGGAGAGGGCCCTTTGAGCCAAGGGTGAAGCCCGTCTGCAGACCACAGGTGACGATAGGCTCATGAGGAGAGAGAGGCCAGCATTTTGTGTGCACAGTTGGCTCTTGCATTTGGTATAAACAAAAACTTGGGAGTTGGGAAAATGTGGGGCACATTTGGGGAAGATGGGTAGTCCAGCACAGTGTATGTGTACGGCAGTGGCGTGGGATGAAGCCAATTCTGGAGGTCTTGGATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGA
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Task1_train_13189
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A sequence alteration has been identified in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is it disease-inducing or harmless?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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ATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCA
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ATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCAAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCA
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Task1_train_13190
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Mutation context: Chromosome 9, Gene STXBP1 (syntaxin binding protein 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Developmental and epileptic encephalopathy, 4
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ATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCA
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ATGACAGGTTTGGGATTATGTCCTTCGGTGGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCAAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCA
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Task1_train_13191
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The gene STXBP1 (syntaxin binding protein 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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GGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACT
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GGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCAATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACT
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Task1_train_13192
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The gene STXBP1 (syntaxin binding protein 1) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Severe global developmental delay
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GGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACT
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GGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCGATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACT
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Task1_train_13193
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A variant affecting Chromosome 9, within the gene STXBP1 (syntaxin binding protein 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Microcephaly
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GGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACT
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GGTTATCACTGGAAACCTATGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATTGTCTCCTGGAAGTTGTGGCCATAGAAAAACACCTTCCGGTTGCTGTCCCAGTGCCTGGCTTCCCTCCACTGTTGGTAATCATGGACAAAGCCAGCCGGCAGTTAAGAAATGGGACCTAGGTGGCATCTCCTGACTGACCTGTGGGAGCTCAGGCTGGTAGCAGGGCTGCTGCAGTGCTGAGACTGGCCAGGAAGCAGGCAGCCGCCGCCCCAGCATCAGGTCAGGTGGGGCCCAGGGAGTGCTGTCAGACCCAGCCATGGGGAAGGGTTCAAAGGTTCTCACATTGTTCTGGCCATGCCAGCTGAAATGTCACTCTCCAACAAACACAACAAAACAAGACCCAAGAGAATGTGAACTGAGGGAAGTGAGAATCATGGGAGTCAGGCTGGGAGCCTGATCGTGGCAAAAGGTTCACTGACTGGTCAGGGCCCCCAGTGGAAGTGCGGCAGTTTATCTGAAGCTGCTTGGAAAGACATCTGTTTCCACTTAGATCATTCTGGATAAAAGCAATAAGAAAATCACTTACTTATGGTCCAGGCACTGAGCTAAGTGTTTTATTTTGCTTTTCCTTTCTAATTATACTCTCATTGTAAAAACACGAATACAGACAATGCTCACATCTCCCCTAACCCCGCTGCACTGCTTGGCTTCCTTTCCCGGGGGCAGCCAGCACCATCATGGGTGCTGGGTGGTTCATGCTCTGTCACCCCTCCTTTGTCAGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGTAAGTCTGGCTTGGACCACGTGGTTCTCTTTACCAAGGACCGCAGTGTTTGTGTGACAGTCCCAGAGACAGCTTGGTTCTGTTGCCACAGAGCATGTGTCAGTGCTGCTTTTCCTGGGGACTGGCTTCCAGTGAAATGCCTGAAGCCCCTGGGGCAGGGCCATCTACATGTGTTCATCGTGGCCAGGGTGACCAACTTGTTCTGTTTGCCAGGGCTTTCCTGGTTGCAGCTCTGAATGGCCCAAGTCCCGGGAAACCCCCAGAAGCATAATAGCAAACCAGAAAATCGACAGACACACGCTTCAGAGCTCATTCAGCATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGATATTCACTGGTTTTTACACATGCTCTGTGTACAGCCCTGTGCGTTTTACACATGGATAGAGTCATGTAACCATCTTACAATCAAGATACAGGGCTGTTTCCTCACCACCTTGATTTTAAAACTGAAAGGCCCAGGTCCTGGGAACCCGCTTAGTCCCAGGCACACTGGAGGGTGGTTGCCCCATTTGTAGTTGAACTTGGGCAGTTTCCTACAGAAACTCACTTCGGCTCCTAGCGTTTCATATCTGCCCCTAAGTGCGCTTGCTATGAAATAGAAACACTGGAGTCTTTTAGGGTATTTTTGGTGATCTTGTCTAGCAGTAGACTTCTGTGCTGCGTTAGTAACTTTGCACCTCAGAGTTTGCTTCCTGCTGCCCTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCGATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACT
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Task1_train_13194
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This variant affects the gene STXBP1 (syntaxin binding protein 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Developmental and epileptic encephalopathy, 4
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CTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTGGCAGAGTCACCAACATGCTAACCCGTAATGATAAATCCCTTCTGTTCTCTGAGCTTGAGCTACTCCGACTTCATGAAGTTAGAAAATCAATTCTGTATTAGGGCTGCTTTTAGGATTCTTGGAAAACATATGTAGCTCTCTCAGAAAAATGCATTACAAACATTAAAAATTTAAAGCTAGTTCATTCTATTGAAAGACCCAAACACCACAGTATACAATTGGACTTTCTTTTTTATAGCTGGTATACAGCCTTCCCTGTTTTACCTACAGTTCCTGAGCAATAGCTGATGTCTCCCTACTAAACTGTATCCAGCTCTGAAAATGTTTCAGAATGTTTCTAATATTTAAACATTGTTGTAAGACCTTTAAGCTGTAGATAATGATTCTGCTTTTTCAGAAAGACATATTCTGCTACAGTGAGTTGGTGATATATTCAGGAAATGCCCAAGGAAGAGTGAGAAAATAATACAGCCTTGGATAGTTCTGTTGTTTAGAGAAGAGGTCTCTAAACTTTTTTGATCACTCAACTTAAAAAGATACTAACCTGTGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCAGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCGGGTGGCTGAGGCAGGACAATCACTTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATTTTGCCATTGCACTCCAGCCTGGATGACAGAGTAAAACTCCATCTCAAAAAATAAAAAAGATATTAACCCATATTTCAGTAAATTAAATGTATTTATGAATTTAAAATATGCTTTATTGTACTAATGTGTGTATTTACAGCATAAATATATATGTTTGTATATTTTTCAAACATGAATTATGTTTCACTATTTATATTCCAATATAAATTTGAAAAGAATGAGGTAAAATAAACATAAGTAGATATTCTAATATTTTCTTCTCTTTTCTCCTTGAATAATCTGGTACACCCCACTCTGGAGACCACTGGTTTCAAATATTAATTAGAAAAGCTATGTGTCTCTCTTCTCTCTTAGAAAATAACTTCTTTTTCTTTTTCTTTTTCTTTTTGAGACTGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGAAGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATAGACCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAAAAATAACTTTAAATGCATACCTTACTGGCAGGAAAACTCACCACATACTCCTAAAGGAAAAATTGCATGACTCCTATAGCATCCATAGCAAGGTCCATGGTGTTGCTGTGAAACTTAGCTGCCTCCTTTTATCTTCCAGGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGGTAAACCCATGCCAGTGCTCAAATGCCCAGTAAATTAGTCCCTGCTTTCTCTCTAAGAGCAGGGAAGCTGCCTCCTCCAAACAGGACTAGTGGGTTAGCAAGGCCATATCCCTCTCTTAGTTTATATCATTTTGCCTTATTTTTATTTTGCTTTTATTATTATTATTATTATTTTGACAGAGTCTCGCTCTTTTTCCCAGGCTGAGGTGCAGTGACAGGAT
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CTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACAAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTGGCAGAGTCACCAACATGCTAACCCGTAATGATAAATCCCTTCTGTTCTCTGAGCTTGAGCTACTCCGACTTCATGAAGTTAGAAAATCAATTCTGTATTAGGGCTGCTTTTAGGATTCTTGGAAAACATATGTAGCTCTCTCAGAAAAATGCATTACAAACATTAAAAATTTAAAGCTAGTTCATTCTATTGAAAGACCCAAACACCACAGTATACAATTGGACTTTCTTTTTTATAGCTGGTATACAGCCTTCCCTGTTTTACCTACAGTTCCTGAGCAATAGCTGATGTCTCCCTACTAAACTGTATCCAGCTCTGAAAATGTTTCAGAATGTTTCTAATATTTAAACATTGTTGTAAGACCTTTAAGCTGTAGATAATGATTCTGCTTTTTCAGAAAGACATATTCTGCTACAGTGAGTTGGTGATATATTCAGGAAATGCCCAAGGAAGAGTGAGAAAATAATACAGCCTTGGATAGTTCTGTTGTTTAGAGAAGAGGTCTCTAAACTTTTTTGATCACTCAACTTAAAAAGATACTAACCTGTGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCAGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCGGGTGGCTGAGGCAGGACAATCACTTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATTTTGCCATTGCACTCCAGCCTGGATGACAGAGTAAAACTCCATCTCAAAAAATAAAAAAGATATTAACCCATATTTCAGTAAATTAAATGTATTTATGAATTTAAAATATGCTTTATTGTACTAATGTGTGTATTTACAGCATAAATATATATGTTTGTATATTTTTCAAACATGAATTATGTTTCACTATTTATATTCCAATATAAATTTGAAAAGAATGAGGTAAAATAAACATAAGTAGATATTCTAATATTTTCTTCTCTTTTCTCCTTGAATAATCTGGTACACCCCACTCTGGAGACCACTGGTTTCAAATATTAATTAGAAAAGCTATGTGTCTCTCTTCTCTCTTAGAAAATAACTTCTTTTTCTTTTTCTTTTTCTTTTTGAGACTGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGAAGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATAGACCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAAAAATAACTTTAAATGCATACCTTACTGGCAGGAAAACTCACCACATACTCCTAAAGGAAAAATTGCATGACTCCTATAGCATCCATAGCAAGGTCCATGGTGTTGCTGTGAAACTTAGCTGCCTCCTTTTATCTTCCAGGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGGTAAACCCATGCCAGTGCTCAAATGCCCAGTAAATTAGTCCCTGCTTTCTCTCTAAGAGCAGGGAAGCTGCCTCCTCCAAACAGGACTAGTGGGTTAGCAAGGCCATATCCCTCTCTTAGTTTATATCATTTTGCCTTATTTTTATTTTGCTTTTATTATTATTATTATTATTTTGACAGAGTCTCGCTCTTTTTCCCAGGCTGAGGTGCAGTGACAGGAT
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Task1_train_13195
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A mutation on Chromosome 9 affecting STXBP1 (syntaxin binding protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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CTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTGGCAGAGTCACCAACATGCTAACCCGTAATGATAAATCCCTTCTGTTCTCTGAGCTTGAGCTACTCCGACTTCATGAAGTTAGAAAATCAATTCTGTATTAGGGCTGCTTTTAGGATTCTTGGAAAACATATGTAGCTCTCTCAGAAAAATGCATTACAAACATTAAAAATTTAAAGCTAGTTCATTCTATTGAAAGACCCAAACACCACAGTATACAATTGGACTTTCTTTTTTATAGCTGGTATACAGCCTTCCCTGTTTTACCTACAGTTCCTGAGCAATAGCTGATGTCTCCCTACTAAACTGTATCCAGCTCTGAAAATGTTTCAGAATGTTTCTAATATTTAAACATTGTTGTAAGACCTTTAAGCTGTAGATAATGATTCTGCTTTTTCAGAAAGACATATTCTGCTACAGTGAGTTGGTGATATATTCAGGAAATGCCCAAGGAAGAGTGAGAAAATAATACAGCCTTGGATAGTTCTGTTGTTTAGAGAAGAGGTCTCTAAACTTTTTTGATCACTCAACTTAAAAAGATACTAACCTGTGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCAGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCGGGTGGCTGAGGCAGGACAATCACTTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATTTTGCCATTGCACTCCAGCCTGGATGACAGAGTAAAACTCCATCTCAAAAAATAAAAAAGATATTAACCCATATTTCAGTAAATTAAATGTATTTATGAATTTAAAATATGCTTTATTGTACTAATGTGTGTATTTACAGCATAAATATATATGTTTGTATATTTTTCAAACATGAATTATGTTTCACTATTTATATTCCAATATAAATTTGAAAAGAATGAGGTAAAATAAACATAAGTAGATATTCTAATATTTTCTTCTCTTTTCTCCTTGAATAATCTGGTACACCCCACTCTGGAGACCACTGGTTTCAAATATTAATTAGAAAAGCTATGTGTCTCTCTTCTCTCTTAGAAAATAACTTCTTTTTCTTTTTCTTTTTCTTTTTGAGACTGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGAAGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATAGACCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAAAAATAACTTTAAATGCATACCTTACTGGCAGGAAAACTCACCACATACTCCTAAAGGAAAAATTGCATGACTCCTATAGCATCCATAGCAAGGTCCATGGTGTTGCTGTGAAACTTAGCTGCCTCCTTTTATCTTCCAGGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGGTAAACCCATGCCAGTGCTCAAATGCCCAGTAAATTAGTCCCTGCTTTCTCTCTAAGAGCAGGGAAGCTGCCTCCTCCAAACAGGACTAGTGGGTTAGCAAGGCCATATCCCTCTCTTAGTTTATATCATTTTGCCTTATTTTTATTTTGCTTTTATTATTATTATTATTATTTTGACAGAGTCTCGCTCTTTTTCCCAGGCTGAGGTGCAGTGACAGGAT
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CTCCTTTACAAGAGGGGTTCGCTAGGTGGAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACAAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTGGCAGAGTCACCAACATGCTAACCCGTAATGATAAATCCCTTCTGTTCTCTGAGCTTGAGCTACTCCGACTTCATGAAGTTAGAAAATCAATTCTGTATTAGGGCTGCTTTTAGGATTCTTGGAAAACATATGTAGCTCTCTCAGAAAAATGCATTACAAACATTAAAAATTTAAAGCTAGTTCATTCTATTGAAAGACCCAAACACCACAGTATACAATTGGACTTTCTTTTTTATAGCTGGTATACAGCCTTCCCTGTTTTACCTACAGTTCCTGAGCAATAGCTGATGTCTCCCTACTAAACTGTATCCAGCTCTGAAAATGTTTCAGAATGTTTCTAATATTTAAACATTGTTGTAAGACCTTTAAGCTGTAGATAATGATTCTGCTTTTTCAGAAAGACATATTCTGCTACAGTGAGTTGGTGATATATTCAGGAAATGCCCAAGGAAGAGTGAGAAAATAATACAGCCTTGGATAGTTCTGTTGTTTAGAGAAGAGGTCTCTAAACTTTTTTGATCACTCAACTTAAAAAGATACTAACCTGTGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCAGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCGGGTGGCTGAGGCAGGACAATCACTTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATTTTGCCATTGCACTCCAGCCTGGATGACAGAGTAAAACTCCATCTCAAAAAATAAAAAAGATATTAACCCATATTTCAGTAAATTAAATGTATTTATGAATTTAAAATATGCTTTATTGTACTAATGTGTGTATTTACAGCATAAATATATATGTTTGTATATTTTTCAAACATGAATTATGTTTCACTATTTATATTCCAATATAAATTTGAAAAGAATGAGGTAAAATAAACATAAGTAGATATTCTAATATTTTCTTCTCTTTTCTCCTTGAATAATCTGGTACACCCCACTCTGGAGACCACTGGTTTCAAATATTAATTAGAAAAGCTATGTGTCTCTCTTCTCTCTTAGAAAATAACTTCTTTTTCTTTTTCTTTTTCTTTTTGAGACTGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGAAGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATAGACCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAAAAATAACTTTAAATGCATACCTTACTGGCAGGAAAACTCACCACATACTCCTAAAGGAAAAATTGCATGACTCCTATAGCATCCATAGCAAGGTCCATGGTGTTGCTGTGAAACTTAGCTGCCTCCTTTTATCTTCCAGGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGGTAAACCCATGCCAGTGCTCAAATGCCCAGTAAATTAGTCCCTGCTTTCTCTCTAAGAGCAGGGAAGCTGCCTCCTCCAAACAGGACTAGTGGGTTAGCAAGGCCATATCCCTCTCTTAGTTTATATCATTTTGCCTTATTTTTATTTTGCTTTTATTATTATTATTATTATTTTGACAGAGTCTCGCTCTTTTTCCCAGGCTGAGGTGCAGTGACAGGAT
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Task1_train_13196
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This variant affects the gene STXBP1 (syntaxin binding protein 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Infantile epilepsy syndrome
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GAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTGGCAGAGTCACCAACATGCTAACCCGTAATGATAAATCCCTTCTGTTCTCTGAGCTTGAGCTACTCCGACTTCATGAAGTTAGAAAATCAATTCTGTATTAGGGCTGCTTTTAGGATTCTTGGAAAACATATGTAGCTCTCTCAGAAAAATGCATTACAAACATTAAAAATTTAAAGCTAGTTCATTCTATTGAAAGACCCAAACACCACAGTATACAATTGGACTTTCTTTTTTATAGCTGGTATACAGCCTTCCCTGTTTTACCTACAGTTCCTGAGCAATAGCTGATGTCTCCCTACTAAACTGTATCCAGCTCTGAAAATGTTTCAGAATGTTTCTAATATTTAAACATTGTTGTAAGACCTTTAAGCTGTAGATAATGATTCTGCTTTTTCAGAAAGACATATTCTGCTACAGTGAGTTGGTGATATATTCAGGAAATGCCCAAGGAAGAGTGAGAAAATAATACAGCCTTGGATAGTTCTGTTGTTTAGAGAAGAGGTCTCTAAACTTTTTTGATCACTCAACTTAAAAAGATACTAACCTGTGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCAGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCGGGTGGCTGAGGCAGGACAATCACTTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATTTTGCCATTGCACTCCAGCCTGGATGACAGAGTAAAACTCCATCTCAAAAAATAAAAAAGATATTAACCCATATTTCAGTAAATTAAATGTATTTATGAATTTAAAATATGCTTTATTGTACTAATGTGTGTATTTACAGCATAAATATATATGTTTGTATATTTTTCAAACATGAATTATGTTTCACTATTTATATTCCAATATAAATTTGAAAAGAATGAGGTAAAATAAACATAAGTAGATATTCTAATATTTTCTTCTCTTTTCTCCTTGAATAATCTGGTACACCCCACTCTGGAGACCACTGGTTTCAAATATTAATTAGAAAAGCTATGTGTCTCTCTTCTCTCTTAGAAAATAACTTCTTTTTCTTTTTCTTTTTCTTTTTGAGACTGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGAAGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATAGACCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAAAAATAACTTTAAATGCATACCTTACTGGCAGGAAAACTCACCACATACTCCTAAAGGAAAAATTGCATGACTCCTATAGCATCCATAGCAAGGTCCATGGTGTTGCTGTGAAACTTAGCTGCCTCCTTTTATCTTCCAGGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGGTAAACCCATGCCAGTGCTCAAATGCCCAGTAAATTAGTCCCTGCTTTCTCTCTAAGAGCAGGGAAGCTGCCTCCTCCAAACAGGACTAGTGGGTTAGCAAGGCCATATCCCTCTCTTAGTTTATATCATTTTGCCTTATTTTTATTTTGCTTTTATTATTATTATTATTATTTTGACAGAGTCTCGCTCTTTTTCCCAGGCTGAGGTGCAGTGACAGGATCTTGGCTTACTGCAACCTCCGCATTTTG
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GAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCCCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTGGCAGAGTCACCAACATGCTAACCCGTAATGATAAATCCCTTCTGTTCTCTGAGCTTGAGCTACTCCGACTTCATGAAGTTAGAAAATCAATTCTGTATTAGGGCTGCTTTTAGGATTCTTGGAAAACATATGTAGCTCTCTCAGAAAAATGCATTACAAACATTAAAAATTTAAAGCTAGTTCATTCTATTGAAAGACCCAAACACCACAGTATACAATTGGACTTTCTTTTTTATAGCTGGTATACAGCCTTCCCTGTTTTACCTACAGTTCCTGAGCAATAGCTGATGTCTCCCTACTAAACTGTATCCAGCTCTGAAAATGTTTCAGAATGTTTCTAATATTTAAACATTGTTGTAAGACCTTTAAGCTGTAGATAATGATTCTGCTTTTTCAGAAAGACATATTCTGCTACAGTGAGTTGGTGATATATTCAGGAAATGCCCAAGGAAGAGTGAGAAAATAATACAGCCTTGGATAGTTCTGTTGTTTAGAGAAGAGGTCTCTAAACTTTTTTGATCACTCAACTTAAAAAGATACTAACCTGTGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCAGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCGGGTGGCTGAGGCAGGACAATCACTTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATTTTGCCATTGCACTCCAGCCTGGATGACAGAGTAAAACTCCATCTCAAAAAATAAAAAAGATATTAACCCATATTTCAGTAAATTAAATGTATTTATGAATTTAAAATATGCTTTATTGTACTAATGTGTGTATTTACAGCATAAATATATATGTTTGTATATTTTTCAAACATGAATTATGTTTCACTATTTATATTCCAATATAAATTTGAAAAGAATGAGGTAAAATAAACATAAGTAGATATTCTAATATTTTCTTCTCTTTTCTCCTTGAATAATCTGGTACACCCCACTCTGGAGACCACTGGTTTCAAATATTAATTAGAAAAGCTATGTGTCTCTCTTCTCTCTTAGAAAATAACTTCTTTTTCTTTTTCTTTTTCTTTTTGAGACTGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGAAGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATAGACCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAAAAATAACTTTAAATGCATACCTTACTGGCAGGAAAACTCACCACATACTCCTAAAGGAAAAATTGCATGACTCCTATAGCATCCATAGCAAGGTCCATGGTGTTGCTGTGAAACTTAGCTGCCTCCTTTTATCTTCCAGGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGGTAAACCCATGCCAGTGCTCAAATGCCCAGTAAATTAGTCCCTGCTTTCTCTCTAAGAGCAGGGAAGCTGCCTCCTCCAAACAGGACTAGTGGGTTAGCAAGGCCATATCCCTCTCTTAGTTTATATCATTTTGCCTTATTTTTATTTTGCTTTTATTATTATTATTATTATTTTGACAGAGTCTCGCTCTTTTTCCCAGGCTGAGGTGCAGTGACAGGATCTTGGCTTACTGCAACCTCCGCATTTTG
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Task1_train_13197
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Consider this mutation in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Inborn genetic diseases
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GAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTGGCAGAGTCACCAACATGCTAACCCGTAATGATAAATCCCTTCTGTTCTCTGAGCTTGAGCTACTCCGACTTCATGAAGTTAGAAAATCAATTCTGTATTAGGGCTGCTTTTAGGATTCTTGGAAAACATATGTAGCTCTCTCAGAAAAATGCATTACAAACATTAAAAATTTAAAGCTAGTTCATTCTATTGAAAGACCCAAACACCACAGTATACAATTGGACTTTCTTTTTTATAGCTGGTATACAGCCTTCCCTGTTTTACCTACAGTTCCTGAGCAATAGCTGATGTCTCCCTACTAAACTGTATCCAGCTCTGAAAATGTTTCAGAATGTTTCTAATATTTAAACATTGTTGTAAGACCTTTAAGCTGTAGATAATGATTCTGCTTTTTCAGAAAGACATATTCTGCTACAGTGAGTTGGTGATATATTCAGGAAATGCCCAAGGAAGAGTGAGAAAATAATACAGCCTTGGATAGTTCTGTTGTTTAGAGAAGAGGTCTCTAAACTTTTTTGATCACTCAACTTAAAAAGATACTAACCTGTGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCAGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCGGGTGGCTGAGGCAGGACAATCACTTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATTTTGCCATTGCACTCCAGCCTGGATGACAGAGTAAAACTCCATCTCAAAAAATAAAAAAGATATTAACCCATATTTCAGTAAATTAAATGTATTTATGAATTTAAAATATGCTTTATTGTACTAATGTGTGTATTTACAGCATAAATATATATGTTTGTATATTTTTCAAACATGAATTATGTTTCACTATTTATATTCCAATATAAATTTGAAAAGAATGAGGTAAAATAAACATAAGTAGATATTCTAATATTTTCTTCTCTTTTCTCCTTGAATAATCTGGTACACCCCACTCTGGAGACCACTGGTTTCAAATATTAATTAGAAAAGCTATGTGTCTCTCTTCTCTCTTAGAAAATAACTTCTTTTTCTTTTTCTTTTTCTTTTTGAGACTGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGAAGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATAGACCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAAAAATAACTTTAAATGCATACCTTACTGGCAGGAAAACTCACCACATACTCCTAAAGGAAAAATTGCATGACTCCTATAGCATCCATAGCAAGGTCCATGGTGTTGCTGTGAAACTTAGCTGCCTCCTTTTATCTTCCAGGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGGTAAACCCATGCCAGTGCTCAAATGCCCAGTAAATTAGTCCCTGCTTTCTCTCTAAGAGCAGGGAAGCTGCCTCCTCCAAACAGGACTAGTGGGTTAGCAAGGCCATATCCCTCTCTTAGTTTATATCATTTTGCCTTATTTTTATTTTGCTTTTATTATTATTATTATTATTTTGACAGAGTCTCGCTCTTTTTCCCAGGCTGAGGTGCAGTGACAGGATCTTGGCTTACTGCAACCTCCGCATTTTG
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GAGAAGCCGGAGTTGGCTGGGTGGCTTGTGAAGCATCTCCCTGTTTTCCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTAAGTATAGTGTTACAGACCCCAGAGTGTATACGGCTCTGCACATGAGCCAAAAATATGTCTAGAAAAAGAACGGGTTTTTTTGTTTGTTTGTTTTGAGATGGAGTCTCGCTCTGTCACCCAAGCGGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAGGCATGTGCCACCATGCCCAGCTAACTTTTTGTATTTTTTTAGTAGAGATGGGATTTCACTGTGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACCACACCTGGCAGAAAAAGAGAGTTTTTTTTGTTTGTTGTTTTCTTAAGACGAAGTCTCGCCCTGTCACCCAGGCTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCACATCTGGCTAATTTTTTGTATCTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGCCTGGTCTCGAACTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACAGCGCCCAGCAAAAGAGCATTTTTAACCCTAGGAAAAACGGTTCATTGATACAGCCTTGCAAATTAGCCTGTAAGTTCTTCTGCGAGTTCCCCAAATCCATGTGGCATTTCTAGGCAGGAACTCATGACTTGTCCTCTTTTTGGGGAGGACAAGCACTTTAGGTCTTTGGTTCCCAGCTCACAGCACCTCAGGTCATAGCCTACTTGGATATGTTAATATTGATTTTTGTGTTTATGTGTGTATCTCATTCAGAGTTGAAATTTTTTCTTTCTGTTTTATTGGTTCTGCCTCTCTGGAGGCAGAGTTGAAACTTCTTGTTTATAGATCCTGAAATATGATGATGATGAAATATATCAACAGAAGTTTCATACTGAACTTTCCTCACAGAGGAGCTGTTTTCTTCATTTGTAAAAAACATTTTTCTTGGTAGCAATCATCAGAAATTTAGTTTCTAAAAACCAGTTTTTCCTTTTGTGGAACCAGACTGTATAAGAAACAGACTGTATGAGAACAGACATTGTTCTCATGGCATTTAATAGCATCCATCATAAAGATAGTGGTTTCAAAATGAAGATTCTAAAAATATGAGTGAATCTCGGTTCTCCCTGTTGGTAGCTATAATTTGTGCCTCCTCCAGCTGTTCACGATTTCCCATGTGATTGGTGCTGAGGGCCTATTGCAGGCAGCTGCTGGAAGCTATTTAGGCGCCACACATTGAGGATGACATCCCAGTGCCTTTCCAGAGGGACAGATGTGATCTTTGCCTTTCCCCTATAAATAACTAAACTCATGTATGACCTGACTTCATGCCCTGGACCAGACAGCTCAGGTGGAGCTTGTATCAGCTGACCCAAAAGATTTTAAGACAGAATTTCAAATTGGTTGACTTTGAAGAGAGCTTTGAATCTCTCCTACCCGAGGAATTGCAGCCCGGGTCAGTGCTGCCACAGCAAGCCTGGCTGACAGGTCCAATGTTGTGACGGCACTTGTGAACATCTGGCAGCTGAGGGTGGTGAGCTGCTGCTGCTGTAAGCTGAAGAGGGTTCGATGAATGTTGTGGAGACAGTGCACTCCACCTGAGTCCCGTCTCCATTCTAGGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCTCCACAAGCACATCGCAGAGGTGTCCCAGTAAGAGCCCCCTGCCCCCTTCTCCAGCGAGGCGCCTCTACCCAGCTGCTATTGATGATGCGTTCACTCTGGGCACCTCGCGGGGGCTCATCACTGTGTGAATTCGTTTTCTTGGCAGAGTCACCAACATGCTAACCCGTAATGATAAATCCCTTCTGTTCTCTGAGCTTGAGCTACTCCGACTTCATGAAGTTAGAAAATCAATTCTGTATTAGGGCTGCTTTTAGGATTCTTGGAAAACATATGTAGCTCTCTCAGAAAAATGCATTACAAACATTAAAAATTTAAAGCTAGTTCATTCTATTGAAAGACCCAAACACCACAGTATACAATTGGACTTTCTTTTTTATAGCTGGTATACAGCCTTCCCTGTTTTACCTACAGTTCCTGAGCAATAGCTGATGTCTCCCTACTAAACTGTATCCAGCTCTGAAAATGTTTCAGAATGTTTCTAATATTTAAACATTGTTGTAAGACCTTTAAGCTGTAGATAATGATTCTGCTTTTTCAGAAAGACATATTCTGCTACAGTGAGTTGGTGATATATTCAGGAAATGCCCAAGGAAGAGTGAGAAAATAATACAGCCTTGGATAGTTCTGTTGTTTAGAGAAGAGGTCTCTAAACTTTTTTGATCACTCAACTTAAAAAGATACTAACCTGTGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTAAAACCCAGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCGGGTGGCTGAGGCAGGACAATCACTTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCAAGATTTTGCCATTGCACTCCAGCCTGGATGACAGAGTAAAACTCCATCTCAAAAAATAAAAAAGATATTAACCCATATTTCAGTAAATTAAATGTATTTATGAATTTAAAATATGCTTTATTGTACTAATGTGTGTATTTACAGCATAAATATATATGTTTGTATATTTTTCAAACATGAATTATGTTTCACTATTTATATTCCAATATAAATTTGAAAAGAATGAGGTAAAATAAACATAAGTAGATATTCTAATATTTTCTTCTCTTTTCTCCTTGAATAATCTGGTACACCCCACTCTGGAGACCACTGGTTTCAAATATTAATTAGAAAAGCTATGTGTCTCTCTTCTCTCTTAGAAAATAACTTCTTTTTCTTTTTCTTTTTCTTTTTGAGACTGAGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCCTGATCTTGGCTCACTGCCACCTCTGCCTCCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGAAGTGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATAGACCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAAAAATAACTTTAAATGCATACCTTACTGGCAGGAAAACTCACCACATACTCCTAAAGGAAAAATTGCATGACTCCTATAGCATCCATAGCAAGGTCCATGGTGTTGCTGTGAAACTTAGCTGCCTCCTTTTATCTTCCAGGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGGTAAACCCATGCCAGTGCTCAAATGCCCAGTAAATTAGTCCCTGCTTTCTCTCTAAGAGCAGGGAAGCTGCCTCCTCCAAACAGGACTAGTGGGTTAGCAAGGCCATATCCCTCTCTTAGTTTATATCATTTTGCCTTATTTTTATTTTGCTTTTATTATTATTATTATTATTTTGACAGAGTCTCGCTCTTTTTCCCAGGCTGAGGTGCAGTGACAGGATCTTGGCTTACTGCAACCTCCGCATTTTG
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Task1_train_13198
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This mutation occurs in STXBP1 (syntaxin binding protein 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Developmental and epileptic encephalopathy, 4
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CAGATCATCAGCCCCACAGGCCTCTCTCTGGTCTCATCTCTGCCCCTATCCTTGTTGCCCTGCCTCCTTGCTCCAGCCACACCAGTGTCCTCTTGCCTCAGACCTGGCCAGGTTCTTTGGCTCAGGCATCATTTCCTCAGGGAAACCCTCCCCGGGTCCCTACCCAGACTAGGCAGATGCCTGTGCCACGTGCACCCACACTACCTGGTGAGTCCCCTCGAAGGGCCCTGATCTCTGCAGTGCTTTGGCTCCTCTCCTGGATGCTCTGATTCTCCGTGAATTAGAGATTCTTTTTTTTTTTTCTTTTGTCCTTGTATCTCCAGCACCTAATAGTTCCTGGTATATAGTAGTAATTCAGTAAATTTTTGTTGGGTAAATGGATGGGATTAGATGGCCCACACAGAAAGCACACAGACCTGTCTTGCCCATTGGGTGCAGATTCCCACCCTCTGTGACCTCCCTGTGCTCCTCCCGTCCACGTAGCCACAGTCTTTCTGCCAGGAGGAAGTGCAAACTTGATGCTAAGGCTGCTTGAGCTGAGGATGAAGAAAAGCAGTGAATAGAAGGATTTTTTTTCCTCAGCAAGAATTAGCTCTCAACAGCTTTCTAGTCCAATAAGCATAGAATAAAATATAACTGCTAGACTTCAGAGTTCAGTTCCCAACCTATAAGACAATCATATTTGGATCAAAAAAAATTTTGAGCCAGAGGCCTGGAAATCTAAACACACATGATTTTGTGTTTCACAGATTCATTTTGAGTGTTACAGAGTGTGCGCTTGGGAACCCTAGTGTGGGCAGCTGTCCTGTCCTGTGCCCACTAGCCTTGCAAAGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGCTGCAAAAAGACTTCTCAAAGCCCTACTACTCTAATTGATTCATGGAAATTCACAGATTTAGTTATCTTCAATTTTTATTAGAAAAGAAATGAAAGGCTGGGATAGGCACCTTATTTCCTGTCACTTTCTTTTCTCCTCTTTATCTTTTCCTTCCTATTCCCTTGCTGTTGGCAGGAGGCCTCAGTTCCTCACCACATGGGCCTCTCCACAGGGCTCCTTGAGCATCCTCCCAACAGGGCCATTGGCTTTCCCCAGAGTGAGCCATCTGAGAGAGAGAGTGCTAGGAGGAAGTCACAATACCTTTTATGTCCCGATCCTGGATGCCATGCATTATCAGTTCCTCCACATTGTTTGTTAGAAGCAAGCTACTAATTCCAGCCTACAGTTAAGGAGGGAATGAAGCTCTGCCTCCTAAAAGGAGGAGTATCAAAGAATCTGTGGACACATTGTAGTAATAAAACCATCATTGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACTATAAGTACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAAACGTTGCAGTGAACCGAGGTTGCACCACTGCACTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAATAAAAACCATGGTGCCACCTACCCTCATAAAGGATTTCTCCTTTGTCTTAACTCTTTTAGAATGTGGTTTGTCCCTCTCTTTTGACATGTAACACTTTCTACTTTGTGATGTTTGTGTACCCGCTTGTACACACTTTTTACCTCCTTTCTGAGGCTAGCGACTCCTTGGTGCCCAGTGGTGTTTTATACGTAGTAGGTGCTCAGTAGATGTTGCATGCATCCATGATTAGTCCCTTGGTCACAAACTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGCCTATTTACCCAGCAGAATTTTAACATCTGCCCTTGAACATCCTGCAGAATCATAGGAAATAGAGACGGGAAGGCCTGCTAGATCATGCTGTCTCAACTCTGGAGCCAGTGCGGTTCCACTGTCCATGGTAGGGACTAGATTGGTCTGGAATGCTGTGCCGTTTGGATTTTGCATGCCTATTTTGAAAGGCTCTGTTTTCCCTGGAATGAGTGAAGAAAGATGTGTGGGGTTCTGAGCCCTACATTGACAGGACTGGCAGAATTTTATATTCTGAATGTGTTCTACTCTTGCCATGGCCAGACCAGCTTTGGAGACCTCGAGGCTGACAGAGGGTAGAGCAGTAGCAATCAGAAATTTGCCCAAAGCATCCCTGATCACAATTGGGATTGTAAATTGAGAATTTGGGGTTTGAGTTCTGTCTCTGTCACTGATTATTTGATGTGCCTGTTTCTTTGTGTTTCATTTTTTTCATCTGCAAAAGGGAAATCATTGCTGACATTTTTCAAGGTTGTCTTGTGGAGTCACTAATCCTGGCTTAGATTCATCCTAATTCTTCAAGTGTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAG
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CAGATCATCAGCCCCACAGGCCTCTCTCTGGTCTCATCTCTGCCCCTATCCTTGTTGCCCTGCCTCCTTGCTCCAGCCACACCAGTGTCCTCTTGCCTCAGACCTGGCCAGGTTCTTTGGCTCAGGCATCATTTCCTCAGGGAAACCCTCCCCGGGTCCCTACCCAGACTAGGCAGATGCCTGTGCCACGTGCACCCACACTACCTGGTGAGTCCCCTCGAAGGGCCCTGATCTCTGCAGTGCTTTGGCTCCTCTCCTGGATGCTCTGATTCTCCGTGAATTAGAGATTCTTTTTTTTTTTTCTTTTGTCCTTGTATCTCCAGCACCTAATAGTTCCTGGTATATAGTAGTAATTCAGTAAATTTTTGTTGGGTAAATGGATGGGATTAGATGGCCCACACAGAAAGCACACAGACCTGTCTTGCCCATTGGGTGCAGATTCCCACCCTCTGTGACCTCCCTGTGCTCCTCCCGTCCACGTAGCCACAGTCTTTCTGCCAGGAGGAAGTGCAAACTTGATGCTAAGGCTGCTTGAGCTGAGGATGAAGAAAAGCAGTGAATAGAAGGATTTTTTTTCCTCAGCAAGAATTAGCTCTCAACAGCTTTCTAGTCCAATAAGCATAGAATAAAATATAACTGCTAGACTTCAGAGTTCAGTTCCCAACCTATAAGACAATCATATTTGGATCAAAAAAAATTTTGAGCCAGAGGCCTGGAAATCTAAACACACATGATTTTGTGTTTCACAGATTCATTTTGAGTGTTACAGAGTGTGCGCTTGGGAACCCTAGTGTGGGCAGCTGTCCTGTCCTGTGCCCACTAGCCTTGCAAAGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGCTGCAAAAAGACTTCTCAAAGCCCTACTACTCTAATTGATTCATGGAAATTCACAGATTTAGTTATCTTCAATTTTTATTAGAAAAGAAATGAAAGGCTGGGATAGGCACCTTATTTCCTGTCACTTTCTTTTCTCCTCTTTATCTTTTCCTTCCTATTCCCTTGCTGTTGGCAGGAGGCCTCAGTTCCTCACCACATGGGCCTCTCCACAGGGCTCCTTGAGCATCCTCCCAACAGGGCCATTGGCTTTCCCCAGAGTGAGCCATCTGAGAGAGAGAGTGCTAGGAGGAAGTCACAATACCTTTTATGTCCCGATCCTGGATGCCATGCATTATCAGTTCCTCCACATTGTTTGTTAGAAGCAAGCTACTAATTCCAGCCTACAGTTAAGGAGGGAATGAAGCTCTGCCTCCTAAAAGGAGGAGTATCAAAGAATCTGTGGACACATTGTAGTAATAAAACCATCATTGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACTATAAGTACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAAACGTTGCAGTGAACCGAGGTTGCACCACTGCACTCCAGCCTGCGCAACAGAGCAAGACTCTGTCTCAAATAAAAACCATGGTGCCACCTACCCTCATAAAGGATTTCTCCTTTGTCTTAACTCTTTTAGAATGTGGTTTGTCCCTCTCTTTTGACATGTAACACTTTCTACTTTGTGATGTTTGTGTACCCGCTTGTACACACTTTTTACCTCCTTTCTGAGGCTAGCGACTCCTTGGTGCCCAGTGGTGTTTTATACGTAGTAGGTGCTCAGTAGATGTTGCATGCATCCATGATTAGTCCCTTGGTCACAAACTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACCGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGCCTATTTACCCAGCAGAATTTTAACATCTGCCCTTGAACATCCTGCAGAATCATAGGAAATAGAGACGGGAAGGCCTGCTAGATCATGCTGTCTCAACTCTGGAGCCAGTGCGGTTCCACTGTCCATGGTAGGGACTAGATTGGTCTGGAATGCTGTGCCGTTTGGATTTTGCATGCCTATTTTGAAAGGCTCTGTTTTCCCTGGAATGAGTGAAGAAAGATGTGTGGGGTTCTGAGCCCTACATTGACAGGACTGGCAGAATTTTATATTCTGAATGTGTTCTACTCTTGCCATGGCCAGACCAGCTTTGGAGACCTCGAGGCTGACAGAGGGTAGAGCAGTAGCAATCAGAAATTTGCCCAAAGCATCCCTGATCACAATTGGGATTGTAAATTGAGAATTTGGGGTTTGAGTTCTGTCTCTGTCACTGATTATTTGATGTGCCTGTTTCTTTGTGTTTCATTTTTTTCATCTGCAAAAGGGAAATCATTGCTGACATTTTTCAAGGTTGTCTTGTGGAGTCACTAATCCTGGCTTAGATTCATCCTAATTCTTCAAGTGTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAG
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Task1_train_13199
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The variant affects gene STXBP1 (syntaxin binding protein 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Inborn genetic diseases
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GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTC
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GTTTCAACATTATAAAACCATGGTTCAAATTCTAAGCGAAGAGAAGATGTTAAAAGATTCTGAAGCCGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAAGTCAGGAGTTCAAGACCAGCTTGGGCAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAATTGGGCGTGGTAGCTGGCGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATCGCTCGAACTCGGGAGGCGGAGGTTGCAGTGAACAGAGATTGCTCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCTGTCTCAAAAATAATAATAATAAGATTCCGAAGCCTCAGCTTGGCCTCTTTTCATAGAAAAAAACAATTCAGGATCTCAGTGTGAAGCTAAGATTTCAATCCTCTGGTTTGGTGTGACAGGCTCAGTTTAGGATTGTAAGCCCTGTCCTGTATCTTTGGATATTTTATAAGGGGAAGCAGCCCTGCTAAAATCCATCAATTTTATAGGGGATTATAGCAAACACAAGGTGTCCTCTTGAAAAGAACCTGACCATCTAGAAAATAGGTCATACCTAAATCAGTAAAAATGTAGTTTGGGATTAATTTTGGAAGTTTACAAATTTTCAGAAGTGATCAAAAGTATTGTTGAACTAGTTGCATTATTAAAATCATGTCCTGCTAGTCAAATGTCTGTTGAGGCTGGTGGTAGGACTGAAAGGTGAACGGCCTGTGAGAGGTGTCCTGCCTTCCTGGGACACAGACTGGAGAGAGACTATGAACTCGAGATCAGAATTTGTATGGACTCTTGGGATCTTGAGAGAAAAAAAGAGAGCCTTCAGGCAACCTCCTAAGAGCCACAAAGGAAGCTGCAGCTGTGAGTCCTGGTTGGCTGAGACCAGCGTGCTGCCTTCTCTGGATCTGAGTCTTGCCTGCATCATGAAGCGGGGCCAGGAACTTGTGTTCACTTCACTCTTTTTCATGTCTAGTTCTTTTTCAGCCCATATCTTCCCCTTCATCTCCTGGGGTTTGGATTTGCTGGTTTGGGGGCTCTTTTTTTCCCTTCCTCACTCATGAAACATGGTAGAAAGATTAAAAACACGTTAAAAGCCTGGAGCAGTTCAAACTCAAAAAGCATGTGCTTCAATGTGAGGGGAAGCAGAATGGAAAGAATCTACCCACGCGGAGGCATCCTAAAATCCCAGCACTTTTCATGGGAGGGAAGCACATCCCTTTAAGTCCCGCTCCCTCACAGGGCCTTGTACCTCTAGAGGGCCTACCAAGATTTAGTCTTTTTTTTTTGTTATGAGCCAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCATGCCTTGGTAAAGATGAGGTCTCTGCTGTGTTGCCCAGGCTGGTCTCAAAACTCCTGGGCTCAAAAGATCCTCCCACCTCAGCCTTCCAAAGTGCGGAGATTACAGGCATGAGCCACCGCCCCCAGCCAGGATTGAGTCTTTATCTGAGAAGCTGGCACAAGTACACTGGCACTCACCTACAGTGAACAGCCTACTTTAAAACAAGATGGTAAATCATTGTGGTTTCTGTTGGGCAAGTGGCACTCAGGGCTTTTATCCACCCTCACTGATGCTGTGGGAGACAATGCTGATCACACTCCTGCTAACTACAGTGCATTATAAGAACAGAAGCACCTGTTTAAGACCTTCCCCAACCAAGGTGGCAGTTCTAGACATTTGTGGATCCTGAATTTCCTAAGAACTACTGTTCCTCCACACTGTCACCAGAGAGATGGAGCCAATGAGGTGTGTTTTCCTTAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGGATGCCAATGTCAGCACTTATGACAAAATCTGCATCATCCTTCTCTACATCTTTTTGAAGAATGGTAGGGCTGTGGGACCTAGAGGAAGGCACAGACCCTGTCTTGGGGAAACTGAGACAACTGAGAAAGAGGAAACAAAGCAGAGAAGTCATTTAAAAGACATGGACTGGGGAAGGAAAAGAAGATCCTAGGGGCCCTTTTTGTTTGGGGAAATGCAGTGTAGTCAGATCGTTGCAGCTAGAGGCTGAATGTCCCCCAGTCATTGTAGAGTTAATAAATGGTATGGAGTAGATGGAAGAGGACAGGGCTGGGGAGAGAGGGAAAGCTGCTTGGCCTTGTGGCCAGTTTACCAGAGCTATGCCCATCACGTATTTTTAACTTGCATCACATTGGTAATCTCTGCCTTTAAAGAACTGACTTTTACCCAGTTCAATCACAGTTTCCCAGGAATGTCCATTGTACAAAAGATAGATAATAAGACTCTTGTCCAATTTGACCTTGATTCAGGGTGGGGGTGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATGTAAGAGGCCAGCTCAGCTTCCGGGGGAGGTGGGAAGGGAGCTGGCAGATCTGTCTGCTTCTGCTCTGACTGACATACAGCATCTCTGATACACACTCGTACGTCAAGAGAGAGAGACACAGAATCAGAGGGATAAAGGTGTAAAGCTATATATAAATCAGAGACACAAAGCCAAGAACCTAGACGTCAACAGCAGTGAGTCATTCACAGTTGTGAAAGCTGAGATGTCTTGGAACCAAACCATAACAGGGGTCCCCGCCATTTTATCTGTCTTGTCTCAGGGTCTGTCTGGCCTCACCTTTGGACAGCTTAGCCTCAGTGTCCCCTGTGAAGATGAGAATATGACACTTAGAGCTAGCAGTTTGGCCACCTTTGAGTCTTCTGCACTGGGTTGGTTCAGAGCCAAGTCAGGGCAGGTTGTCTGGGAGGCCTGGACCACGTGATGTGCTCTAGAAGAGGTGGGGTGAAGCCTCCAGGACCCTTGCAGAGGACTCTGCCATGAACCTTGCCTGTCACAGCCCCACTGTGTGCTTGTCTTCTATAGGCACAGCACTAACAAAGCTAGGGTTGCAAATATTCTCCCTCTGGAATCTTATAGACAAAACTGTTCTAGTGCCACCAGACCATAGCCCTGTAACTAGCAGGAGTTTGGCATTTTTAAACCCTTGTTCACAAGAGGGATCAAAATGAGAATGGAGATGTGCATTCATTCAGTGCAACTGTGCTGCTGAAATCCAATACGGCATGCTCCAAGCAGTATGCCCTCCTCTAATAGGCAGCAAACTACTGTTTCAACTGCCTGGAGTTTTTTCTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGTTTTTTCTTTTTAATGGCACTTACATACTTGACCTATGTTTGCCCTTTTTTATAACTTTTTTTTTTTTTTTTTTTTGAGATAGAGTC
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Subsets and Splits
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